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ADAMTSL4-Related Eye Disorders

, MD, PhD, , MD, PhD, , MD, PhD, , PhD, and , MD, PhD.

Author Information
, MD, PhD
Department of Clinical Medicine
University of Bergen
Department of Ophthalmology
Haukeland University Hospital
Bergen, Norway
, MD, PhD
Department of Clinical Medicine
University of Bergen
Department of Ophthalmology
Haukeland University Hospital
Bergen, Norway
, MD, PhD
Center for Medical Genetics and Molecular Medicine
Haukeland University Hospital
Department of Clinical Medicine
University of Bergen
Bergen, Norway
, PhD
Center for Medical Genetics and Molecular Medicine
Haukeland University Hospital
Department of Clinical Medicine
University of Bergen
Bergen, Norway
, MD, PhD
Center for Medical Genetics and Molecular Medicine
Haukeland University Hospital
Department of Clinical Medicine
University of Bergen
Bergen, Norway

Initial Posting: .

Summary

Disease characteristics. The spectrum of ADAMTSL4-related eye disorders is a continuum that includes the phenotypes known as ‘autosomal recessive isolated ectopia lentis’ and ‘ectopia lentis et pupillae’ as well as more minor eye anomalies with no displacement of the pupil and very mild displacement of the lens; no systemic abnormalities are observed. Typical eye findings are dislocation of the lens, congenital abnormalities of the iris, refractive errors that may lead to amblyopia, and early-onset cataract. Increased intraocular pressure and retinal detachment may occur on occasion. Eye findings can vary within a family and between the eyes in an individual.

Diagnosis/testing. The diagnosis is established in individuals with characteristic eye findings who have either homozygous or compound heterozygous mutations in ADAMTSL4.

Management. Treatment of manifestations: In children, the main objective is to prevent amblyopia by early correction of refractive errors and patching. Lensectomy should be considered in individuals with cataracts, those in whom patching does not result in improvement, those in whom the lens edge is in the middle of the pupil, and those with large degrees of astigmatism. Sphincterotomy can benefit individuals with small and highly displaced pupils. Increased intraocular pressure can in most cases be controlled by topical anti-glaucoma medication. Retinal detachment is treated in the usual manner by vitrectomy and scleral buckling if necessary.

Surveillance: Assessment of visual acuity, refractive error, and intraocular pressure one to three times per year; adults who are stable may be examined annually, whereas children require more frequent examinations. Ultrasonography may be necessary to evaluate for retinal detachment if the view of the fundus is limited

Agents/circumstances to avoid: Care during contact sports to avoid trauma to the head. Avoid boxing and other martial arts.

Evaluation of relatives at risk: Sibs of a proband should undergo complete ophthalmologic evaluation (determination of visual acuity, measurement of intraocular pressure, slit lamp examination, and ophthalmoscopy) to allow early diagnosis and treatment of findings, primarily to prevent amblyopia. If the pathogenic allelic variants in a family are known, molecular genetic testing is likely to be more helpful in clarifying the genetic status of at-risk sibs given the wide variability even within the same family.

Genetic counseling. ADAMTSL4-related eye disorders are inherited in an autosomal recessive manner. At conception, each sib of an affected individual has 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. Carrier testing for at-risk relatives and prenatal diagnosis for pregnancies at increased risk are possible if the pathogenic variants in the family are known.

GeneReview Scope

ADAMTSL4-Related Eye Disorders: Included Disorders

Diagnosis

Clinical Diagnosis

The diagnosis ADAMTSL4-related eye disorders is established by the identification of either homozygous or compound heterozygous mutations in ADAMTSL4 [Aragon-Martin et al 2010]. (See Molecular Genetic Testing.)

The spectrum of ADAMTSL4-related eye disorders is a continuum that includes the phenotypes known as autosomal recessive isolated ectopia lentis and ectopia lentis et pupillae as well as more minor eye anomalies with no displacement of the pupil and very mild displacement of the lens. Variability in the eye findings is observed between affected individuals in a family and between the eyes of the same individual.

The typical eye findings:

  • Mild to severe dislocation of the lens due to loss of zonular fibers without any preceding trauma. The lens may be displaced in any direction. Iridodonesis may be present.
  • Mild to severe displacement of the pupil; in some instances the pupils are normal. If the pupil is displaced, the lens is usually displaced in the opposite direction.
  • Enlarged iris processes; seen in most affected individuals, causing an anomalous iridocorneal angle
  • A deep anterior chamber and a thin and flat iris with loss of iris crypts accompanied by iris transillumination; seen in individuals with prominent displacement of the pupil
  • In some individuals, fibrosis of iris tissue surrounding the pupil resulting in poor dilatation of the pupil in response to mydriatics
  • In some individuals, presence of a pupillary membrane, with small strands extending from the pupillary margin visible after dilatation of the pupil. A fibrous membrane, visible on ultrasound biomicroscopy (UBM), may cover the posterior part of the iris.

Additional findings:

Molecular Genetic Testing

Gene. ADAMTSL4 is the only gene in which mutation is known to cause ADAMTSL4-related eye disorders.

Table 1. Summary of Molecular Genetic Testing Used in ADAMTSL4-Related Eye Disorders

Gene 1Test MethodMutations Detected 2Mutation Detection Frequency by Test Method 3
ADAMTSL4Sequence analysisSequence variants 4100%
Deletion/duplication analysis 5Exonic or whole-gene deletions or duplicationsUnknown, none reported

1. See Table A. Genes and Databases for chromosome locus and protein name.

2. See Molecular Genetics for information on allelic variants.

3. The ability of the test method used to detect a mutation that is present in the indicated gene

4. Examples of mutations detected by sequence analysis may include small intragenic deletions/insertions and missense, nonsense, and splice site mutations; typically, exonic or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

5. Testing that identifies exonic or whole-gene deletions/duplications not readily detectable by sequence analysis of the coding and flanking intronic regions of genomic DNA; a variety of methods including quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), or targeted chromosomal microarray analysis (gene/segment-specific) may be used. A full chromosomal microarray analysis that detects deletions/duplications across the genome may also include this gene/segment.

Testing Strategy

To confirm/establish the diagnosis in a proband. Sequencing of ADAMTSL4 is likely to confirm the clinical diagnosis in individuals suspected of having autosomal recessive isolated ectopia lentis or ectopia lentis et pupillae.

Note: In individuals with isolated ectopia lentis who are simplex cases (i.e., a single occurrence in the family) the mode of inheritance is unknown. In this situation, testing must also include FBN1. In a group of simplex cases with isolated ectopia lentis, 64% were associated with mutations in FBN1 and 18% were associated with mutations in ADAMTSL4 [Aragon-Martin et al 2010].

Carrier testing for at-risk relatives requires prior identification of the disease-causing mutations in the family.

Note: Carriers are heterozygotes for this autosomal recessive disorder and are not at risk of developing the disorder.

Prenatal diagnosis and preimplantation genetic diagnosis (PGD) for at-risk pregnancies require prior identification of the pathogenic variants in the family.

Clinical Description

Natural History

The spectrum of ADAMTSL4-related eye disorders is a continuum that includes the phenotypes known as autosomal recessive isolated ectopia lentis and ectopia lentis et pupillae as well as more minor eye anomalies with no displacement of the pupil and very mild displacement of the lens. Variability in the eye findings described in detail in Diagnosis is observed between affected individuals in a family and between the eyes of the same individual.

The diagnosis of ectopia lentis is usually made in early childhood; however, dislocation of the lens may be present at birth [Neuhann et al 2011]. When ectopia lentis is accompanied by severe ectopia pupillae, the diagnosis is usually made at birth; in mild cases, the findings may not be recognized until adulthood.

Refractive errors are common:

  • Hyperopia (+5 D to +15 D) occurs when the lens is dislocated out of the visual axis resulting in a functionally aphakic eye.
  • Myopia (-5 D to >-15 D) may result from increased axial growth of the eye, or because of abnormalities like spherophakia and lens coloboma.
  • Various degrees of astigmatism, sometimes quite large, are frequently observed.

In children, uncorrected refractive errors and anisometropia (unequal refractive errors between the two eyes) may lead to amblyopia. One study found that the risk for amblyopia was highest when the lens was still covering the visual axis and the edge of the lens was within 0.3-2.3 mm of the center of the pupil [Romano et al 2002].

Cataract can be seen at an early age. In the study by Christensen et al [2010], all affected individuals above age 45 years had undergone cataract surgery.

Elevated intraocular pressure (IOP) is seen in up to 20%-25% of affected individuals [Christensen et al 2010, Neuhann et al 2011]. In the event of anterior subluxation of the lens, an acute rise in intraocular pressure may occur. Of note, the central corneal thickness can be increased (median value 589 μm, with a range of 528-630 μm) [Christensen et al 2010], which may explain, to some extent, why some individuals have moderately elevated intraocular pressure, but few have glaucomatous damage of the optic nerve head.

Retinal detachment occurs more frequently than in the general population; in some individuals retinal detachment as well as elevated IOP could be the consequence of lensectomy or cataract surgery.

In the series of individuals with ectopia lentis et pupillae reported by Goldberg [1988] increased corneal diameter and increased axial length were also observed [Goldberg 1988]. None of these individuals have been tested for mutations in ADAMTSL4.

Progression of the lens displacement and development of cataract may occur over time, whereas the pupillary displacement is fairly stable.

Visual acuity varies from light perception to 20/20 depending on the degree of amblyopia, the presence of cataract, or sequelae after retinal detachment or glaucoma. Surprisingly, some individuals with highly displaced pupils may have normal visual acuity.

Genotype-Phenotype Correlations

No genotype-phenotype correlations have been noted.

  • The phenotype may vary significantly from one individual to another within a family
  • The phenotype may vary significantly between the eyes of the same individual.
  • The same pathogenic variant can be associated with ectopia lentis as well as ectopia lentis et pupillae.

Prevalence

In western Norway, three of 190 blood donors were heterozygous for the ADAMTSL4 c.767_786del pathogenic variant, suggesting that the frequency of homozygous individuals in this population is around 1:16,000 (with wide confidence intervals) [Christensen et al 2010].

In a German study, two of 360 individuals were heterozygous for this pathogenic variant [Neuhann et al 2011]. Thus, in the European population this variant is relatively common and probably represents a founder mutation.

Differential Diagnosis

Ectopia lentis most frequently occurs as an autosomal dominant disorder in association with mutations in FBN1 (OMIM 134797) that may (OMIM 154700) or may not (OMIM 129600) be accompanied by the systemic features of Marfan syndrome.

Ectopia lentis associated with additional systemic features occurs in homocystinuria, sulfite oxidase deficiency (OMIM 272300), and Weill-Marchesani syndrome [Fuchs & Rosenberg 1998].

Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, proportionate short stature, brachydactyly, and joint stiffness. The ocular problems, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis, and glaucoma, which can lead to blindness. Both autosomal recessive and autosomal dominant inheritance has been observed. Mutations in ADAMTS10 have been identified in families with autosomal recessive WMS.

A WMS-like syndrome (OMIM 613195) without brachydactyly or decreased joint flexibility is caused by mutation of ADAMTS17 (OMIM 607511).

Ectopia lentis associated with mutation of LTBP2 can be accompanied by megalocornea, glaucoma, microspherophakia, axial myopia, and Marfanoid features [Désir et al 2010].

Ectopia pupillae has occasionally been reported in variants of anterior segment dysgenesis including aniridia and Axenfeld-Rieger anomaly (OMIM 180500).

Ectopia pupillae may be seen as part of the iridocorneal endothelial syndrome (ICE). A single family with ptosis, strabismus, and ectopic pupils has also been reported (OMIM 178330).

Note to clinicians: For a patient-specific ‘simultaneous consult’ related to this disorder, go to Image SimulConsult.jpg, an interactive diagnostic decision support software tool that provides differential diagnoses based on patient findings (registration or institutional access required).

Management

Evaluations Following Initial Diagnosis

To establish the extent of disease and the needs of an individual diagnosed with an ADAMTSL4-related eye disorder, routine ophthalmologic examination that includes the following is recommended:

  • Determination of visual acuity and refractive error
  • Measurement of intraocular pressure

    Note: Affected individuals may have increased central corneal thickness that could explain, to some extent, why some individuals have moderately elevated intraocular pressure, but few have glaucomatous damage of the optic nerve head.
  • Slit lamp examination
  • Ophthalmoscopy

The following may also provide important information:

  • Orthoptic examination, particularly in children
  • Measurement of axial length
  • Anterior segment examination with optical coherence tomography (OCT) and ultrasound biomicroscopy (UBM)
  • Corneal topography including measurement of central corneal thickness
  • Gonioscopy

Treatment of Manifestations

In children, the main objective is to prevent amblyopia by early correction of refractive errors. Patching is necessary when correction of the refractive error is insufficient in restoring vision.

Lensectomy should be considered in individuals with cataracts, those in whom patching does not result in improvement, those in whom the lens edge is in the middle of the pupil, and those with large degrees of astigmatism [Anteby et al 2003, Wu-Chen et al 2005].

Following lens removal, improvement of visual acuity has been observed even in individuals older than age seven years [Speedwell & Russell-Eggitt 1995].

Treatment with lensectomy must be weighed against the problems of aphakia correction in children (particularly in individuals with unilateral involvement), loss of accommodation, and the risk for secondary glaucoma and retinal detachment. All surgical procedures should therefore be planned individually by an experienced ophthalmic surgeon.

Sphincterotomy (widening of the pupil by incision of the iris at the pupillary margin) can benefit individuals with small and highly displaced pupils.

Increased intraocular pressure can in most cases be controlled by topical anti-glaucomatous medication.

It is not clear if mutations in ADAMTSL4 increase the risk for retinal detachment. However, after lensectomy or cataract surgery, retinal detachment may occur. If typical signs (e.g., floaters, lightning, a diminished visual field) appear, evaluation by an ophthalmologist should be sought as soon as possible. Treatment of retinal detachment is by standard techniques using vitrectomy and scleral buckling if necessary. It is important to examine the fellow eye for retinal degeneration.

Surveillance

Assessment of visual acuity, refractive error, and intraocular pressure one to three times per year: adults who are stable may be examined yearly, whereas children require more frequent examinations. Ultrasonography may be necessary to evaluate for retinal detachment if the view of the fundus is limited

Agents/Circumstances to Avoid

Care must be taken during contact sports to avoid blunt trauma to the eye and head. Affected individuals should not participate in activities like boxing and other martial arts.

Evaluation of Relatives at Risk

Sibs of a proband with an ADAMTSL4-related eye disorder should undergo complete ophthalmologic evaluation (determination of visual acuity, measurement of intraocular pressure, slit lamp examination, and ophthalmoscopy) to allow early diagnosis and treatment of findings, primarily to prevent amblyopia.

If the disease-causing mutations in a family are known, molecular genetic testing is likely to be more helpful that clinical examination in clarifying the genetic status of at-risk sibs, given the wide phenotypic variability even within the same family.

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

Therapies Under Investigation

Search ClinicalTrials.gov 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

Genetic counseling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions. The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic status for family members. This section is not meant to address all personal, cultural, or ethical issues that individuals may face or to substitute for consultation with a genetics professional. —ED.

Mode of Inheritance

ADAMTSL4-related eye disorders are inherited in an autosomal recessive manner.

Risk to Family Members

Parents of a proband

  • The unaffected parents of a child with an ADAMTSL4-related eye disorder are obligate heterozygotes (i.e., carriers of one mutant allele).
  • Heterozygotes (carriers) are asymptomatic.

Sibs of a proband

  • At conception, each sib of an affected individual has 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.
  • Once an at-risk sib is known to be unaffected, the risk of his/her being a carrier is 2/3.
  • Heterozygotes (carriers) are asymptomatic.

Offspring of a proband

  • The offspring of an individual with an ADAMTSL4-related eye disorder are obligate heterozygotes (carriers) for a disease-causing mutation in ADAMTSL4.
  • Unless an individual with an ADAMTSL4-related eye disorder has children with an affected individual or a carrier, his/her offspring will be obligate heterozygotes (carriers) for a disease-causing mutation in ADAMTSL4.

Other family members. Each sib of the proband’s parents is at a 50% risk of being a carrier.

Carrier Detection

Carrier testing of at-risk relatives is possible if the pathogenic variants in the family have been identified.

Related Genetic Counseling Issues

See Management, Evaluation of Relatives at Risk for information on evaluating at-risk relatives for the purpose of early diagnosis and treatment.

Family planning

  • The optimal time for determination of genetic risk, clarification of carrier status, and discussion of the availability of prenatal 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.

DNA banking is the storage of DNA (typically extracted from white blood cells) for possible future use. Because it is likely that testing methodology and our understanding of genes, allelic variants, and diseases will improve in the future, consideration should be given to banking DNA of affected individuals.

Prenatal Testing

If the pathogenic variants have been identified in the family, prenatal diagnosis for pregnancies at increased risk is possible by analysis of DNA extracted from fetal cells obtained by amniocentesis (usually performed at ~15-18 weeks’ gestation) or chorionic villus sampling (usually performed at ~10-12 weeks’ gestation).

Note: Gestational age is expressed as menstrual weeks calculated either from the first day of the last normal menstrual period or by ultrasound measurements.

Requests for prenatal testing for conditions which (like ADAMTSL4-related eye disorders) do not affect intellect and have some treatment available are not common. Differences in perspective may exist among medical professionals and within families regarding the use of prenatal testing, particularly if the testing is being considered for the purpose of pregnancy termination rather than early diagnosis. Although decisions about prenatal testing are the choice of the parents, discussion of these issues is appropriate.

Preimplantation genetic diagnosis (PGD) may be an option for some families in which the pathogenic variants have been identified.

Resources

GeneReviews staff has selected the following disease-specific and/or umbrella support organizations and/or registries for the benefit of individuals with this disorder and their families. GeneReviews is not responsible for the information provided by other organizations. For information on selection criteria, click here.

No specific resources for ADAMTSL4-Related Eye Disorders have been identified by GeneReviews staff.

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. ADAMTSL4-Related Eye Disorders: Genes and Databases

Gene SymbolChromosomal LocusProtein NameLocus SpecificHGMD
ADAMTSL41q21​.3ADAMTS-like protein 4ADAMTSL4 @ LOVDADAMTSL4

Data are compiled from the following standard references: gene symbol from HGNC; chromosomal locus, locus name, critical region, complementation group from OMIM; protein name from UniProt. For a description of databases (Locus Specific, HGMD) to which links are provided, click here.

Table B. OMIM Entries for ADAMTSL4-Related Eye Disorders (View All in OMIM)

225100ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE; ECTOL2
225200ECTOPIA LENTIS ET PUPILLAE
610113ADAMTS-LIKE 4; ADAMTSL4

Gene structure. ADAMTSL4 (previously known as TSRC1) has alternate transcriptional splice variants, encoding different isoforms. NM_019032.4 is the longer transcript that encodes the longer protein isoform. For a detailed summary of gene and protein information, see Table A, Gene Symbol.

Pathogenic allelic variants. Several pathogenic variants in ADAMTSL4 have been detected in individuals with isolated ectopia lentis. See Table 2 and Table 3 (pdf) [Ahram et al 2009, Aragon-Martin et al 2010, Christensen et al 2010, Greene et al 2010, Neuhann et al 2011].

The 20-bp deletion c.767_786del is the variant most frequently associated with ectopia lentis et pupillae [Christensen et al 2010] and with isolated ectopia lentis [Aragon-Martin et al 2010, Neuhann et al 2011]. Most likely, it represents a European founder mutation.

Table 2. Selected ADAMTSL4 Pathogenic Variants

DNA Nucleotide Change Protein Amino Acid ChangeReference Sequences
c.767_786delp.Gln256ProfsTer38NM_019032​.4
NP_061905​.2

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

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

Normal gene product. ADAMTSL4 (also known as TSRC1) is expressed in many tissues including the eye [Buchner & Meisler 2003, Gabriel et al 2012]. Very little is known regarding the function of ADAMTS-like protein 4 (ADAMTSL4). ADAMTSL proteins lack the metalloproteinase domain found in ADAMTS proteins (ADAM [a disintegrin and metalloproteinase] with thrombospondin domains) and are therefore thought to be catalytically inactive. In silico analysis has shown that ADAMTSL4 contains seven thrombospondin type 1 repeats. Within each repeat are several protein binding sites that may anchor the protein to components of the extracellular matrix. In addition, ADAMTSL4 contains a cysteine-rich module, an ADAMTS-spacer 1 domain, and a PLAC (protease and lacunin) domain. Several splice variants encoding different isoforms have been described [Apte 2009].

Recent studies by Gabriel et al [2012] have shown that ADAMTSL4 is a secreted glycoprotein that is both N- and O-glycosylated. In cell culture ADAMTSL4 co-localizes with fibrillin-1 and the presence of ADAMTSL4 enhances the deposition of fibrillin-1.

Abnormal gene product. The consequence of mutations of ADAMTSL4 has not been studied at the protein level; therefore, it is not known if any residual ADAMTSL4 function remains. Disruption of zonular fibers is a key event in the pathogenesis of ectopia lentis and could be explained by impaired assembly of fibrillin-1 into microfibrils caused by reduced function of ADAMTSL4. In ectopia lentis et pupillae several structures of the eye are affected suggesting that the effect of ADAMTSL4 mutation could be more complex and involve several additional factors like LTBP2 and TGFβ [Le Goff & Cormier-Daire 2011].

References

Literature Cited

  1. Ahram D, Sato TS, Kohilan A, Tayeh M, Chen S, Leal S, Al-Salem M, El-Shanti H. A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis. Am J Hum Genet. 2009;84:274–8. [PMC free article: PMC2668005] [PubMed: 19200529]
  2. Anteby I, Isaac M, BenEzra D. Hereditary subluxated lenses. Ophthalmology. 2003;110:1344–8. [PubMed: 12867389]
  3. Apte SS. A disintegrin-like and metalloprotease (reprolysin-type) with thrombospondin type 1 motif (ADAMTS) superfamily: functions and mechanisms. J Biol Chem. 2009;284:31493–7. [PMC free article: PMC2797218] [PubMed: 19734141]
  4. Aragon-Martin JA, Ahnood D, Charteris DG, Saggar A, Nischal KK, Comeglio P, Chandra A, Child AH, Arno G. Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients. Hum Mutat. 2010;31:E1622–31. [PubMed: 20564469]
  5. Buchner DA, Meisler MH. TSRC1, a widely expressed gene containing seven thrombospondin type I repeats. Gene. 2003;307:23–30. [PubMed: 12706885]
  6. Christensen AE, Fiskerstrand T, Knappskog PM, Boman H, Rødahl E. A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. Invest Ophthalmol Vis Sci. 2010;51:6369–73. [PubMed: 20702823]
  7. Désir J, Sznajer Y, Depasse F, Roulez F, Schrooyen M, Meire F, Abramovicz M. LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma. Eur J Hum Genet. 2010;18:761–7. [PMC free article: PMC2987369] [PubMed: 20179738]
  8. Fuchs J, Rosenberg T. Congenital ectopia lentis. A Danish national survey. Acta Ophthalmol Scand. 1998;76:20–6. [PubMed: 9541430]
  9. Gabriel LA, Wang LW, Bader H, Ho JC, Majors AK, Hollyfield JG, Traboulsi EI, Apte SS. ADAMTSL4, a Secreted Glycoprotein Widely Distributed in the Eye, Binds Fibrillin-1 Microfibrils and Accelerates Microfibril Biogenesis. Invest Ophthalmol Vis Sci. 2012;53:461–9. [PMC free article: PMC3292378] [PubMed: 21989719]
  10. Goldberg MF. Clinical manifestations of ectopia lentis et pupillae in 16 patients. Trans Am Ophthalmol Soc. 1988;86:158–77. [PMC free article: PMC1298806] [PubMed: 2979048]
  11. Greene VB, Stoetzel C, Pelletier V, Perdomo-Trujillo Y, Liebermann L, Marion V, De Korvin H, Boileau C, Dufier JL, Dollfus H. Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis. Ophthalmic genet. 2010;31:47–51. [PubMed: 20141359]
  12. Le Goff C, Cormier-Daire V. The ADAMTS(L) family and human genetic disorders. Hum Mol Genet. 2011;20:R163–7. [PubMed: 21880666]
  13. Neuhann TM, Artelt J, Neuhann TF, Tinschert S, Rump A. A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: Evidence of a founder mutation. Invest Ophthalmol Vis Sci. 2011;52:695–700. [PubMed: 21051722]
  14. Romano PE, Kerr NC, Hope GM. Bilateral ametropic functional amblyopia in genetic ectopia lentis: its elation to the amount of subluxation, an indicator for early surgical management. Binocul Vis Strabismus Q. 2002;17:235–41. [PubMed: 12171598]
  15. Speedwell L, Russell-Eggitt I. Improvement in visual acuity in children with ectopia lentis. J Pediatr Ophthalmol Strabismus. 1995;32:94–7. [PubMed: 7629677]
  16. Wu-Chen WY, Letson RD, Summers CG. Functional and structural outcomes following lensectomy for ectopia lentis. J AAPOS. 2005;9:353–7. [PubMed: 16102486]

Chapter Notes

Revision History

  • 16 February 2012 (me) Review posted live
  • 16 September 2011 (er) Original submission
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