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Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026.

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Peters Plus Syndrome

Synonym: PTRPLS

, MS, LCGC, , MD, MHSc, , MD, and , PhD.

Author Information and Affiliations

Initial Posting: ; Last Update: April 7, 2026.

Estimated reading time: 27 minutes

Summary

Clinical characteristics.

Peters plus syndrome (PTRPLS) is characterized by congenital eye anomalies, particularly Peters anomaly, which results in varying degrees of corneal opacity and lens anomalies, as well as an increased risk of glaucoma. Other eye findings can include posterior segment abnormalities (including retinal and/or optic nerve coloboma) and microphthalmia. Additional non-ophthalmologic findings include short stature with rhizomelic shortening of the limbs with broad hands and feet, variable developmental delay / intellectual disability, typical facial features, and, occasionally, cleft lip/palate and congenital heart defects.

Diagnosis/testing.

The diagnosis of PTRPLS is established in a proband with suggestive findings and either biallelic pathogenic variants in B3GLCT or compound heterozygosity for one pathogenic variant in B3GLCT and a contiguous gene deletion of 13q12.3 that includes B3GLCT identified by molecular genetic testing.

Management.

Treatment of manifestations: Multidisciplinary care by specialists in relevant fields including ophthalmology to manage eye anomalies; low vision services as needed; orthopedics, physical therapy, and occupational therapy to determine need for adaptive devices to address mobility and fine motor needs; educational support for developmental delay and/or intellectual disability; cleft lip/palate team; social services to develop a plan for transition from pediatric care to adult care.

Surveillance: Monitor the individual's response to supportive care (including educational, neurobehavioral, and musculoskeletal needs); monitor emergence of new ophthalmologic manifestations including glaucoma in early infancy, then at age three months and age six months, and a minimum of every six months thereafter.

Genetic counseling.

PTRPLS is inherited in an autosomal recessive manner. If both parents are known to be heterozygous for a pathogenic variant involving B3GLCT, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. However, at birth the risk to sibs of a proband of being affected is less than 25% because there is an increased chance for miscarriages and second- and third-trimester loss of affected fetuses. Once the pathogenic variants involving B3GLCT have been identified in an affected family member, carrier testing for at-risk relatives and prenatal/preimplantation genetic testing for PTRPLS are possible.

Diagnosis

No consensus clinical diagnostic criteria for Peters plus syndrome (PTRPLS) have been published.

Suggestive Findings

PTRPLS should be suspected in probands with the following clinical imaging findings and family history.

Clinical findings. The most consistent findings include:

  • Anterior segment anomalies of the eye, typically congenital corneal opacity (Peters anomaly), which are usually bilateral but occasionally asymmetric. The characteristic finding is a corneal excavation (posterior ulcer of von Hippel), typically seen on optical coherence tomography or ultrasound biomicroscopy, and sometimes visible as a delineated circle on the posterior cornea.
  • Short stature with rhizomelic shortening of the limbs, broad hands and feet, and brachydactyly (present at birth or postnatal onset)
  • Developmental delay / intellectual disability (typically mild to moderate)
  • Facial features include a prominent forehead, short palpebral fissures, hypertelorism, a long philtrum, and a thin and/or exaggerated Cupid's bow of the vermilion of the upper lip. A broad neck and ear anomalies (small or low-set ears and preauricular pits) are common. The facial phenotype does not appear to evolve significantly over time.

More variable findings include:

  • Cleft lip/palate
  • Congenital heart defects
  • Gastrointestinal anomalies
  • Genital anomalies
  • Congenital anomalies of the kidney and urinary tract

Imaging findings. Structural brain malformations (reported in 60% of individuals evaluated) include hypoplasia or agenesis of the corpus callosum and hydrocephalus/ventriculomegaly, with occasional reports of more severe anomalies including encephalocele [Schoner et al 2013, Weh et al 2014].

Family history is consistent with autosomal recessive inheritance (e.g., affected sibs and/or parental consanguinity). Absence of a known family history does not preclude the diagnosis.

Establishing the Diagnosis

The diagnosis of PTRPLS is established in a proband with suggestive findings and either biallelic pathogenic (or likely pathogenic) variants in B3GLCT or compound heterozygosity for one pathogenic (or likely pathogenic) variant in B3GLCT and a contiguous gene deletion of 13q12.3 that includes B3GLCT identified by molecular genetic testing (see Table 1).

Note: (1) Per the American College of Medical Genetics and Genomics (ACMG) / Association for Molecular Pathology variant interpretation guidelines, the terms "pathogenic variant" and "likely pathogenic variant" are synonymous in a clinical setting, meaning that both are considered diagnostic and can be used for clinical decision making [Richards et al 2015]. Reference to "pathogenic variants" in this GeneReview is understood to include likely B3GLCT pathogenic variants. (2) Identification of biallelic B3GLCT variants of uncertain significance (or of one known B3GLCT pathogenic variant and one B3GLCT variant of uncertain significance) does not establish or rule out the diagnosis.

Molecular genetic testing approaches can include a combination of gene-targeted testing (single-gene testing, multigene panel) and comprehensive genomic testing (chromosomal microarray analysis, exome sequencing, genome sequencing). Gene-targeted testing requires that the clinician determine which gene(s) are likely involved (see Option 1), whereas comprehensive genomic testing does not (see Option 2).

Option 1

Single-gene testing. Sequence analysis of B3GLCT is performed first to detect missense, nonsense, and splice site variants and small intragenic deletions/insertions. Note: Depending on the sequencing method used, single-exon, multiexon, or whole-gene deletions/duplications may not be detected. If only one or no variant is detected by the sequencing method used, the next step is to perform gene-targeted deletion/duplication analysis to detect exon and whole-gene deletions or a chromosomal microarray to detect a contiguous gene deletion of 13q12.3 that includes B3GLCT.

A multigene panel that includes B3GLCT and other genes of interest (see Differential Diagnosis) is most likely to identify the genetic cause of the condition while limiting identification of pathogenic variants and variants of uncertain significance in genes that do not explain the underlying phenotype. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.

For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.

Option 2

Comprehensive genomic testing does not require the clinician to determine which gene is likely involved.

Chromosomal microarray analysis (CMA) uses oligonucleotide or SNP arrays to detect genome-wide large deletions/duplications (including contiguous gene deletion of 13q12.3 that includes B3GLCT) that cannot be detected by sequence analysis.

Exome sequencing is most commonly used; genome sequencing is also possible. The ACMG and the American Academy of Pediatrics recommend exome/genome sequencing as first- or second-tier diagnostic testing for children with developmental delay, intellectual disability, and/or multiple congenital anomalies [Manickam et al 2021, Rodan et al 2025]. To date, the majority of B3GLCT pathogenic variants reported (e.g., splicing, missense, nonsense) are within coding and canonical splice site regions and are therefore likely to be identified on exome sequencing, including the most common pathogenic variant, c.660+1G>A, which is present in 80% of reported families (see Table 6). Copy number analysis of exome/genome data should also be performed to identify partial or whole gene deletions.

For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.

Table 1.

Peters Plus Syndrome: Molecular Genetic Testing

Gene 1MethodProportion Pathogenic
Variants 2 Identified by Method
B3GLCT Sequence analysis 393% 4
Gene-targeted deletion/duplication analysis, 5 chromosomal microarray analysis 67% 5
1.
2.

See Molecular Genetics for information on variants detected in this gene.

3.

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include missense, nonsense, and splice site variants and small intragenic deletions/insertions; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results click here.

4.
5.

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include a range of techniques such as quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), a gene-targeted microarray designed to detect single-exon deletions or duplications. Exome and genome sequencing may be able to detect deletions/duplications using breakpoint detection or read depth; however, sensitivity can be lower than gene-targeted deletion/duplication analysis.

6.

Chromosomal microarray analysis (CMA) uses oligonucleotide or SNP arrays to detect genome-wide large deletions/duplications (including B3GLCT) that cannot be detected by sequence analysis. The ability to determine the size of the deletion/duplication depends on the type of microarray used and the density of probes in the 13q12.3 region. CMA designs in current clinical use target the 13q12.3 region. To date, most contiguous B3GLCT deletions are identified through CMA and/or copy number analysis of exome/genome data.

Clinical Characteristics

Clinical Description

Peters plus syndrome (PTRPLS) is characterized by anterior segment anomalies of the eye (Peters anomaly), short stature with rhizomelic shortening of the limbs with broad hands and feet, variable developmental delay / intellectual disability, typical facial features, cleft lip/palate, and congenital heart defects. Unless otherwise stated, the following description of the clinical findings is based on the reports of Maillette de Buy Wenniger-Prick & Hennekam [2002], Lesnik Oberstein et al [2006], Weh et al [2014], and Akalın et al [2025].

Eyes. Almost all individuals have developmental eye anomalies, particularly Peters anomaly, which results in various degrees of corneal opacity that is usually central but may also be eccentric. There may also be a relatively clear central cornea. When the defect is large and the cornea is particularly thin, corneal ectasia or a descemetocele (either forward bulging of the inner Descemet membrane or protrusion through the damaged outer layers [i.e., stroma]) may be present at birth.

The lens may be adhered to the posterior cornea or may even be found within the cornea (i.e., intracorneal). The lens can also be in the anterior chamber, which can be quite shallow or even flat. The lens may be clear or have cataract.

Due to the incomplete separation of the lens, neural crest migration is secondarily obstructed during embryogenesis, resulting in goniodysgenesis, which may lead to glaucoma and/or iridocorneal adhesions with secondary abnormalities of pupil size, shape, and position.

Microphthalmia is frequently associated, especially when corneal involvement is severe.

Persistent fetal vasculature can also occur [Shah et al 2022].

Posterior segment abnormalities including retinal or optic nerve coloboma and retinal atrophy have also been reported but may be difficult to visualize due to the corneal opacity [Reis et al 2008, Weh et al 2014, Wang et al 2020, Akalın et al 2025].

Interfamilial variability in the severity of ocular features varies greatly among individuals with PTRPLS [Shah et al 2022], and variability in the anomalies between the eyes of an individual has been observed, including Peters anomaly in one eye and other developmental ocular findings in the other [Weh et al 2014]. Likewise, intrafamilial variability in ocular manifestations may be extensive [Akalın et al 2025].

Growth deficiency has been reported in all individuals to date, typically with accompanying rhizomelic limb shortening, broad hands and feet, and brachydactyly. Vertebral anomalies and/or tethered spinal cord are occasionally reported as well as scoliosis.

Although growth deficiency can begin prenatally with intrauterine growth restriction (IUGR) or shortening of long bones diagnosed via ultrasound examination, birth length is not always below the third centile. The range of adult height is 128-151cm in females and 141-155cm in males.

Growth hormone deficiency with good response to growth hormone replacement therapy has been reported in some children [Akalın et al 2025].

Cognition. Developmental delay is observed in ~80% of children. When present, intellectual disability typically ranges from mild to severe. Note: Adults with normal cognitive functioning have been reported.

Neurobehavioral/psychiatric issues. To date, the range and type of these issues have not been well delineated.

Variable associated findings

  • Gastrointestinal anomalies, present in about 50% of individuals, can be structural (anteriorly placed anus or anal atresia) or functional (feeding difficulties in the absence of cleft lip/palate) [Akalın et al 2025].
  • Congenital heart defects, observed in up to 40% of individuals, include atrial septal defect, ventricular septal defect, subvalvular aortic stenosis, pulmonary stenosis, and bicuspid pulmonary valve.
  • Cleft lip and/or palate, observed in about one third of individuals, can result in feeding difficulties and hearing loss.
  • Genital anomalies, particularly cryptorchidism, are reported in about one third of males.
  • Congenital anomalies of the kidney and urinary tract, observed in about 25% of individuals, include the following:
    • Kidney anomalies. Duplex kidney or small hyperechoic kidney; underdevelopment of the kidneys with oligomeganephroma, multicystic dysplastic kidney [Boog et al 2005], and glomerulocystic kidneys
    • Urinary tract involvement. Hydronephrosis or vesicoureteral reflux

Prenatal complications. The clinical spectrum of PTRPLS appears to include nonviable conceptuses. An increased rate of miscarriage and stillbirth was reported in mothers of affected children [Reis et al 2008, Akalın et al 2025]. Reported prenatal findings include IUGR, shortening of the long bones, polyhydramnios, and brain anomalies [Reis et al 2008, Schoner et al 2013, Khatri et al 2019].

Prognosis. It is unknown whether life span in individuals with PTRPLS is shortened. One individual is alive at age 41 years [Akalın et al 2025], demonstrating that survival into adulthood is possible. Since many adults with disabilities have not undergone advanced genetic testing, it is likely that adults with this condition are underrecognized and underreported.

Genotype-Phenotype Correlations

No clinically relevant genotype-phenotype correlations have been identified.

Nomenclature

The diagnosis of PTRPLS is specific to the typical constellation of features caused by biallelic pathogenic variants involving B3GLCT; the diagnosis does not encompass Peters anomaly with systemic features (e.g., Peters anomaly "plus" heart defect) of other known (or unknown) genetic cause. Individuals with Peters anomaly with systemic features in whom biallelic B3GLCT genetic alterations have not been identified may be diagnosed with atypical Peters plus or Peters plus-like syndrome [Delas et al 2025].

Alternate terms for PTRPLS have included Krause-Kivlin syndrome and Krause-van Schooneveld-Kivlin syndrome.

Peters anomaly may also be referred to as Peters sequence or Peters anomaly/sequence. Historically, Peters anomaly was sometimes categorized as type I (congenital corneal opacity with iridocorneal adhesions) or type II (congenital corneal opacity with corneo-lenticular adhesions and/or cataract); however, these findings are now considered to be part of the spectrum of Peters anomaly rather than discrete entities.

Prevalence

The prevalence of PTRPLS is unknown. More than 80 affected individuals of diverse ethnic backgrounds have been reported in the literature.

The most common allele is c.660+1G>A, seen in 1,460/115,7564 European alleles in gnomAD and present in almost all populations.

A founder deletion of exon 15 was reported 11 affected individuals homozygous for this deletion from six families in a village in Turkey [Akalın et al 2025] (see Table 6).

Differential Diagnosis

Developmental eye disorders with systemic involvement in the differential diagnosis of Peters plus syndrome (PTRPLS) are listed in Table 2.

Table 2.

Peters Plus Syndrome: Genetic Differential Diagnosis

Gene(s) /
Genetic Mechanism		DisorderMOIFeatures Similar to PTRPLSFeatures Distinct from PTRPLS
8q21.11 deletion involving ZFHX4Chromosome 8q21.11 deletion syndrome (OMIM 614230)AD
  • Corneal opacity / DED
  • Short stature
  • Overlapping facial features
  • ID
  • Cryptorchidism
  • CHD
  • Overlapping brain malformations
No rhizomelia or brachydactyly
B3GALNT2
B4GAT1
CRPPA
DAG1
FKRP
FKTN
GMPPB
LARGE1
POMGNT1
POMGNT2
POMK
POMT1
POMT2
RXYLT1 		Alpha-dystroglycanopathy 1 (congenital muscular dystrophy-dystroglycanopathy w/brain & eye anomalies) (OMIM PS236670)AR
  • DED
  • CHD (assoc w/pathogenic variants in some genes)
  • Normal growth
  • No rhizomelia or brachydactyly
  • Severe CNS anomalies
  • Early death
  • Lack of typical craniofacial features
CDH2 Agenesis of corpus callosum, cardiac, ocular, & genital syndrome (OMIM 618929)AD
  • Corneal opacity / DED
  • CHD
  • Thin corpus callosum
  • ID
  • Cryptorchidism
  • Normal stature (in most)
  • No rhizomelia or brachydactyly
  • Micropenis
  • Different characteristic facial features
FOXC1 FOXC1-related De Hauwere syndrome 2AD
  • DED
  • CHD
  • Short stature
  • Overlapping CNS malformations
  • No rhizomelia or brachydactyly
  • Different characteristic facial features
  • Hearing loss is more common than in PTRPLS.
PIK3R1 SHORT syndrome (short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, teething delay)AD
  • DED
  • Short stature
  • Lipoatrophy
  • Normal intelligence
  • No rhizomelia or brachydactyly
  • Different characteristic facial features
TFAP2A Branchiooculofacial syndrome AD
  • DED
  • Cleft lip/palate
  • Kidney anomalies
  • No rhizomelia or brachydactyly
  • Different characteristic facial features
  • Pre- or postauricular pits/sinuses
WDR37 Neuro-oculo-cardio-genitourinary syndrome (OMIM 618652)AD
  • Corneal opacity / DED
  • Short stature
  • Overlapping facial features
  • CHD
  • Gastrointestinal involvement
  • Kidney anomalies
  • Cryptorchidism
  • Seizures
  • No rhizomelia or brachydactyly
  • Micropenis
  • Hip anomalies
  • Severe/profound ID
  • More severe CNS anomalies than in PTRPLS

AD = autosomal dominant; AR = autosomal recessive; CHD = congenital heart defects; CNS = central nervous system; DED = developmental eye disorder; ID = intellectual disability; MOI = mode of inheritance; PTRPLS = Peters plus syndrome

1.

Alpha-dystroglycanopathies are characterized by congenital muscular dystrophy associated with characteristic brain malformations, eye malformations (typically involving the retina), profound intellectual disability, and early death. The three major phenotypes of the alpha-dystroglycanopathies are Fukuyama congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), and muscle-eye-brain disease (MEBD). FCMD is milder than WWS and MEBD, particularly with respect to brain and ophthalmologic involvement.

2.

Management

No clinical practice guidelines for Peters plus syndrome (PTRPLS) have been published.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with PTRPLS, the evaluations summarized in Table 3 (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Table 3.

Peters Plus Syndrome: Recommended Evaluations Following Initial Diagnosis

System/ConcernEvaluationComment
Constitutional Assess height & weight.No standardized growth charts are available.
Ophthalmologic By pediatric ophthalmologistComprehensive exam incl slit lamp & anterior chamber OCT or UBM to assess for:
  • Corneal opacity
  • Cataracts
  • Glaucoma
  • Posterior segment anomalies
Skeletal manifestations Orthopedics / physical medicine & rehab / PT & OT eval
  • Assess growth & upper-to-lower segment ratio.
  • Pediatric orthopedist to assess needs & plan routine follow up
  • Refer to PT to assess gross motor skills & need for adaptive devices.
  • Refer to OT to assess fine motor skills & ADL.
Neurologic Neurologic eval
  • To incl head ultrasound in infancy or brain MRI (if not already performed) to identify potentially manageable findings such as hydrocephalus
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech-language eval
  • Eval for need for early intervention / special education
Neurobehavioral/
Psychiatric 		Per primary care clinician / mental health specialistScreen for effects of abnormal visual development & ensure adaptive / supportive services are in place.
Cleft lip/palate Craniofacial team
  • Need for feeding eval, timing of surgery
  • Assess hearing in children w/cleft palate.
Cardiovascular Echocardiography for congenital heart malformationsHighly variable, incl septal defects, pulmonary stenosis, bicuspid valves
Genital anomalies in males Primary care physicianEval for cryptorchidism
CAKUT Abdominal ultrasound exam
  • For those w/congenital anomalies of kidney: refer to pediatric nephrologist
  • For those w/congenital anomalies of urinary tract: refer to pediatric urologist
Growth hormone deficiency Assess for growth hormone deficiency.Per clinical findings, based on age of child
Genetic counseling By genetics professionals 1To obtain a pedigree & inform affected persons & their families re nature, MOI, & implications of PTRPLS to facilitate medical & personal decision making
Family support
& resources 		By clinicians, wider care team, & family support organizationsAssessment of family & social structure to determine need for:

ADL = activities of daily living; MOI = mode of inheritance; OCT= optical coherence tomography, OT = occupational therapy; PT = physical therapy; PTRPLS = Peters plus syndrome; UBM = ultrasound biomicroscopy

1.

Clinical geneticist, certified genetic counselor, certified genetic nurse, genetics advanced practice provider (nurse practitioner or physician assistant)

Treatment of Manifestations

Supportive care to improve quality of life, maximize function, and reduce complications is recommended. This ideally involves multidisciplinary care by specialists in relevant fields (see Table 4).

Table 4.

Peters Plus Syndrome: Treatment of Manifestations

Manifestation/ConcernTreatmentConsiderations/Other
Developmental delay /
Intellectual disability /
Neurobehavioral issues 		See Developmental Delay / Intellectual Disability Management Issues.
Ophthalmologic Ophthalmic subspecialist
  • Surgical intervention at 3-6 mos is often required to clear visual axis (see Treatment of Manifestations, Eye).
  • Treatment of secondary findings as they arise incl glaucoma & cataract
Low vision services
  • Children: through early intervention programs &/or school district
  • Adults: low vision clinic &/or community vision services / OT / mobility services
Musculoskeletal Adaptive devices as recommended by PT/OT
Growth deficiency Growth hormone therapyOnly if growth hormone deficiency has been confirmed
Cleft lip/palate Per cleft lip/palate team
Cardiovascular Oer treating cardiologist
CAKUT Per treating nephrologist &/or urologist
Transition to adult care Develop plan for transition from pediatric to adult care. 1Starting by age ~10 yrs
Family/Community
  • Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
  • Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.
Consider involvement in adaptive sports or Special Olympics.

OT = occupational therapy; PT = physical therapy

1.

Eye

Potential preservation of vision in the affected eye(s) often requires surgery. For severe corneal opacification, consideration of corneal transplantation (penetrating keratoplasty) is suggested at ages three to six months to clear the visual axis; for mild corneal opacification, simple separation of iridocorneal adhesions may suffice [Traboulsi 2006] with or without posterior corneal scraping/vacuum to encourage endothelial cell growth into the affected posterior corneal defect.

In a retrospective review of long-term outcome following penetrating keratoplasty before age 18 months in Peters anomaly without corneo-lenticular adhesions, Zaidman et al [2007] reported visual acuity of 20/400 or better in two thirds of treated persons, and none with phthisis bulbi or visual acuity reduced to light perception only. However, Reichl et al [2018] reported a much poorer outcome in individuals with Peters anomaly. Karadag et al [2016] reported that Peters anomaly was the most common indication for pediatric corneal transplant, with success rates ranging from 45% to 90% correlating with the degree of anterior segment involvement. In newborns with corneal ectasia, the corneal graft is at times purely tectonic (to restore corneal integrity without concern for visual improvement) with no hope for visual restoration. Note: There are no data regarding success rates of various interventions in individuals with PTRPLS.

In the presence of a clear peripheral cornea, sector iridectomy has been used as an alternate approach to provide the child with a visual axis, particularly when corneal transplantation is unavailable or otherwise contraindicated by social or medical circumstances [Zaidman et al 1998, Shah et al 2022].

Cataract surgery can be performed in isolation only when the cornea is clear enough to permit the surgeon a view. More often the lens is removed at the time of corneal transplantation, either intentionally or unintentionally, as the lens is often spontaneously lost during surgery. Once the eye is aphakic, refractive correction with contact lenses or glasses is required.

While rates of glaucoma for PTRPLS are not specified, glaucoma is generally seen in up to 50% of individuals with Peters anomaly, with or without surgical intervention. Surgery and medical management are often required.

Management of amblyopia by a pediatric ophthalmologist is recommended for optimal visual outcome.

Developmental Delay / Intellectual Disability Management Issues

The following information represents typical management recommendations for individuals with developmental delay / intellectual disability in the United States; standard recommendations may vary from country to country.

Ages 0-3 years. Referral to an early intervention program is recommended for access to occupational, physical, speech, and feeding therapy as well as infant mental health services, special educators, and sensory impairment specialists. In the US, early intervention is a federally funded program available in all states that provides in-home services to target individual therapy needs.

Ages 3-5 years. In the US, developmental preschool through the local public school district is recommended. Before placement, an evaluation is made to determine needed services and therapies and an individualized education plan (IEP) is developed for those who qualify based on established motor, language, social, or cognitive delay. The early intervention program typically assists with this transition. Developmental preschool is center based; for children too medically unstable to attend, home-based services are provided.

All ages. Consultation with a developmental pediatrician is recommended to ensure the involvement of appropriate community, state, and educational agencies (US) and to support parents in maximizing quality of life. Some issues to consider:

  • IEP services:
    • An IEP provides specially designed instruction and related services to children who qualify.
    • IEP services will be reviewed annually to determine whether any changes are needed.
    • Special education law requires that children participating in an IEP be in the least restrictive environment feasible at school and included in general education as much as possible, when and where appropriate.
    • Vision and hearing consultants should be a part of the child's IEP team to support access to academic material.
    • PT, OT, and speech services will be provided in the IEP to the extent that the need affects the child's access to academic material. Beyond that, private supportive therapies based on the affected individual's needs may be considered. Specific recommendations regarding type of therapy can be made by a developmental pediatrician.
    • As a child enters the teen years, a transition plan should be discussed and incorporated in the IEP. For those receiving IEP services, the public school district is required to provide services until age 21.
  • A 504 plan (Section 504: a US federal statute that prohibits discrimination based on disability) can be considered for those who require accommodations or modifications such as front-of-class seating, assistive technology devices, classroom scribes, extra time between classes, modified assignments, and enlarged text.
  • Developmental Disabilities Administration (DDA) enrollment is recommended. DDA is a US public agency that provides services and support to qualified individuals. Eligibility differs by state but is typically determined by diagnosis and/or associated cognitive/adaptive disabilities.
  • Families with limited income and resources may also qualify for supplemental security income (SSI) for their child with a disability.

Motor Dysfunction

Gross motor dysfunction

  • Physical therapy is recommended to maximize mobility and to reduce the risk for later-onset orthopedic complications (e.g., contractures, scoliosis, hip dislocation).
  • Consider use of durable medical equipment and positioning devices as needed (e.g., wheelchairs, walkers, bath chairs, orthotics, adaptive strollers).

Fine motor dysfunction. Occupational therapy is recommended for difficulty with fine motor skills that affect adaptive function such as feeding, grooming, dressing, and writing.

Oral motor dysfunction should be assessed at each visit and clinical feeding evaluations and/or radiographic swallowing studies should be obtained for choking/gagging during feeds, poor weight gain, frequent respiratory illnesses, or feeding refusal that is not otherwise explained. Assuming that the child is safe to eat by mouth, feeding therapy (typically from an occupational or speech therapist) is recommended to help improve coordination or sensory-related feeding issues. Feeds can be thickened or chilled for safety. When feeding dysfunction is severe, an NG-tube or G-tube may be necessary.

Speech, language, and communication issues. Speech-language evaluation should be considered early in development for children who have delayed communication milestones or who are not yet talking. Evaluation for alternative means of communication (e.g., augmentative and alternative communication [AAC]) is appropriate for individuals who have speech or receptive and expressive language difficulties. An AAC evaluation should be completed by a speech-language pathologist who has expertise in the area. This evaluation typically takes into account cognitive abilities, sensory impairments, and motor skills to determine the most appropriate form of communication. AAC devices can range from low-tech, such as picture exchange communication, to high-tech, such as voice-generating devices. Contrary to popular belief, AAC devices do not hinder verbal development of speech, but rather support optimal speech and language development. Many children will continue to require AAC into later childhood and adulthood, while some may use their AAC for a shorter time to help aid speech and language development.

Neurobehavioral/Psychiatric Concerns

Children may qualify for and benefit from interventions used in treatment of autism spectrum disorder, including applied behavior analysis (ABA). ABA therapy is targeted to the individual child's behavioral, social, and adaptive strengths and weaknesses and typically performed one on one with a board-certified behavior analyst.

Consultation with a developmental pediatrician may be helpful in guiding parents through appropriate behavior management strategies or providing prescription medications, such as medication used to treat attention-deficit/hyperactivity disorder, when necessary.

Concerns about serious aggressive or destructive behavior can be addressed by a pediatric psychiatrist.

Surveillance

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in Table 5 are recommended.

Table 5.

Peters Plus Syndrome: Recommended Surveillance

System/ConcernEvaluationFrequency
Ophthalmologic Pediatric ophthalmologist: monitor for glaucoma & amblyopia
  • Screening for onset of glaucoma: starting no later than age 4-6 wks, then at age 3 mos & 6 mos, & minimum of every 6 mos thereafter
  • More frequent visits per treating ophthalmologist for existing glaucoma or following ophthalmic surgery
Low vision servicesPer treating clinicians
Development Monitor developmental progress & educational needs.At each visit
Neurobehavioral issues Assess for anxiety, ADHD, & ASD.At each visit or per treating clinicians
Musculoskeletal Orthopedist assessment & physical medicine & OT/PT assessment of mobility & self-help skillsPer treating clinicians
Cleft lip/palate Craniofacial team
Cardiovascular Per treating clinicians
CAKUT
  • Per nephrologist treating kidney issues
  • Per urologist treating urinary tract issues
Growth deficiency Mgmt needed only if there is documented growth hormone deficiency.
Family/Community Assess family need for social work support, care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).At each visit

ADHD = attention-deficit/hyperactivity disorder; ASD = autism spectrum disorder; OT = occupational therapy; PT = physical therapy

Agents/Circumstances to Avoid

Avoid agents that increase risk of glaucoma (e.g., corticosteroids).

Pilocarpine eye drops and phospholine iodide eye drops are relatively contraindicated, as they may further shallow the anterior chamber and potentially precipitate glaucoma.

Evaluation of Relatives at Risk

See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Genetic Counseling

Mode of Inheritance

Peters plus syndrome (PTRPLS) is inherited in an autosomal recessive manner.

Risk to Family Members

Parents of a proband

  • The parents of an affected child are presumed to be heterozygous for a pathogenic variant involving B3GLCT (i.e., a pathogenic variant in B3GLCT or contiguous gene deletion of 13q12.3 that includes B3GLCT).
  • Molecular genetic testing is recommended for the parents of the proband to confirm that both parents are heterozygous for a pathogenic variant involving B3GLCT and to allow reliable recurrence risk assessment.
  • If a pathogenic variant involving B3GLCT is detected in only one parent and parental identity testing has confirmed biological maternity and paternity, it is possible that one of the pathogenic variants identified in the proband occurred as a de novo event in the proband or as a postzygotic de novo event in a mosaic parent [Jónsson et al 2017]. If the proband appears to have homozygous pathogenic variants (i.e., the same two pathogenic variants), additional possibilities to consider include:
  • Heterozygotes (carriers) are asymptomatic and are not at risk of developing the disorder.

Sibs of a proband

  • If both parents are known to be heterozygous for a pathogenic variant involving B3GLCT, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. However, at birth the risk to sibs of a proband of being affected is less than 25% because there is an increased chance for miscarriages and second- and third-trimester loss of affected fetuses (see Clinical Description, Prenatal complications).
  • Intrafamilial variability may be extensive among affected sibs.
  • Heterozygotes (carriers) are asymptomatic and are not at risk of developing the disorder.

Offspring of a proband. The offspring of an individual with PTRPLS are obligate heterozygotes (carriers) for a pathogenic variant involving B3GLCT.

Other family members. Each sib of the proband's parents is at a 50% risk of being a carrier of a pathogenic variant involving B3GLCT.

Carrier Detection

Carrier testing for at-risk relatives requires prior identification of the pathogenic variants involving B3GLCT in the family.

Related Genetic Counseling Issues

Family planning

  • The optimal time for determination of genetic risk and discussion of the availability of prenatal/preimplantation genetic testing is before pregnancy.
  • It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected, are carriers, or are at risk of being carriers.

Prenatal Testing and Preimplantation Genetic Testing

Once the pathogenic variants involving B3GLCT have been identified in an affected family member, prenatal and preimplantation genetic testing for PTRPLS are possible.

Differences in perspective may exist among medical professionals and within families regarding the use of prenatal and preimplantation genetic testing. While most health care professionals would consider use of prenatal and preimplantation genetic testing to be a personal decision, discussion of these issues may be helpful.

Resources

  • American Cleft Palate-Craniofacial Association
    Phone: 919-933-9044
  • MAGIC Foundation
    Phone: 630-836-8200
    Email: contactus@magicfoundation.org
  • National Eye Institute
  • Pediatric Glaucoma and Cataract Family Association

Molecular Genetics

Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED.

Table A.

Peters Plus Syndrome: Genes and Databases

GeneChromosome LocusProteinLocus-Specific DatabasesHGMDClinVar
B3GLCT13q12​.3Beta-1,3-glucosyltransferaseBeta 1, 3-GALactosylTransferase-Like (B3GALTL) @ LOVDB3GLCTB3GLCT

Data are compiled from the following standard references: gene from HGNC; chromosome locus from OMIM; protein from UniProt. For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click here.

Table B.

OMIM Entries for Peters Plus Syndrome (View All in OMIM)

261540PETERS-PLUS SYNDROME; PTRPLS
610308BETA-3-GLUCOSYLTRANSFERASE; B3GLCT

Molecular Pathogenesis

B3GLCT encodes beta-1,3-glucosyltransferase (B3GLCT), which functions as a glycosyltransferase in a specific O-glycosylation step [Kozma et al 2006, Sato et al 2006]. Specifically, B3GLCT transfers glucose to O-linked fucose on thrombospondin type-1 repeats (TSRs). Many of these repeats are found on members of the ADAMTS superfamily, a group of essential extracellular matrix proteins that require this specific O-glycosylation for proper secretion and function [Zhang et al 2021].

Mechanism of disease causation. Pathogenic variants in B3GLCT have been shown to result in loss of function [Zhang et al 2021].

B3GLCT-specific laboratory technical considerations

  • Missing variants. If molecular genetic testing (including testing for pathogenic variants in B3GLCT and contiguous gene deletions of 13q12.3 that include B3GLCT) has identified only one pathogenic variant involving B3GLCT in the proband, additional possibilities to consider include:
    • The proband does not have Peters plus syndrome;
    • The proband has a missing variant on the other allele that has not yet been detected or is undetectable by current methods.

Table 6.

B3GLCT Pathogenic Variants Referenced in This GeneReview

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
NM_194318​.4 c.660+1G>A--The most common pathogenic variant; present in 80% of families (67% of probands) [Lesnik Oberstein et al 2006]
Deletion of exon 15 (final exon)-- Akalın et al [2025]

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

Chapter Notes

Author Notes

Dr Elena V Semina and Linda Reis are interested in hearing from clinicians treating families affected by Peters plus syndrome (PTRPLS) in whom no causative variant (or only variants of uncertain significance) have been identified through molecular genetic testing.
Web page: Semina Lab

Dr Alex V Levin provides expert medical and surgical care to infants, children, and adolescents with pediatric anterior segment eye conditions (including PTRPLS) as well as adults and children with genetic eye diseases.

Acknowledgments

Author History

Gudrun Aubertin, MD, MSc; Children's & Women's Health Centre of British Columbia (2007-2014)
Donald Basel, MD (2026-present)
Raoul C Hennekam, MD, PhD; Academic Medical Center, Amsterdam (2014-2026)
Marjolein Kriek, MD, PhD; Leiden University Medical Center (2011-2014)
Saskia AJ Lesnik Oberstein, MD, PhD; Leiden University Medical Center (2007-2026)
Alex V Levin, MD, MHSc (2026-present)
Linda M Reis, MS, LCGC (2026-present)
Claudia AL Ruivenkamp, PhD; Leiden University Medical Center (2017-2026)
Elena V Semina, PhD (2026-present)

Martine van Belzen, PhD; Leiden University Medical Center (2014-2017)
Marjan M Weiss, MD, PhD; Leiden University Medical Center (2007-2011)

Revision History

  • 7 April 2026 (bp) Comprehensive update posted live
  • 24 August 2017 (sw) Comprehensive update posted live
  • 23 January 2014 (me) Comprehensive update posted live
  • 17 February 2011 (me) Comprehensive update posted live
  • 8 October 2007 (me) Review posted live
  • 24 July 2007 (ga) Original submission

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