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Stickler syndrome type 1(STL1)

MedGen UID:
810955
Concept ID:
C2020284
Disease or Syndrome
Synonyms: Arthroophthalmopathy, hereditary progressive; COL2A1-Associated Stickler Syndrome; COL2A1-Related Stickler Syndrome; Stickler syndrome, membranous vitreous type; Stickler syndrome, vitreous type 1; STL1
SNOMED CT: Hereditary arthro-ophthalmopathy (78675000); Stickler syndrome type 1 (1010668008); Hereditary progressive arthro-ophthalmopathy (78675000)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): COL2A1 (12q13.11)
 
Monarch Initiative: MONDO:0007160
OMIM®: 108300
Orphanet: ORPHA90653

Definition

Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity. [from GeneReviews]

Additional descriptions

From OMIM
Stickler syndrome is a clinically variable and genetically heterogeneous disorder characterized by ocular, auditory, skeletal, and orofacial abnormalities. Most forms of Stickler syndrome are characterized by the eye findings of high myopia, vitreoretinal degeneration, retinal detachment, and cataracts. Additional findings may include midline clefting (cleft palate or bifid uvula), Pierre Robin sequence, flat midface, sensorineural or conductive hearing loss, mild spondyloepiphyseal dysplasia, and early-onset osteoarthritis (summary by Baker et al., 2011). Genetic Heterogeneity of Stickler Syndrome See 609508 for a form of Stickler syndrome type I that is solely or predominantly ocular and is also caused by mutation in the COL2A1 gene. Stickler syndrome type II (STL2; 604841), sometimes called the beaded vitreous type, is caused by mutation in the COL11A1 gene (120280) on chromosome 1p21. These forms of Stickler syndrome are autosomal dominant. Autosomal recessive forms of Stickler syndrome include Stickler syndrome type IV (STL4; 614134), caused by mutation in the COL9A1 gene (120210) on chromosome 6q13, and Stickler syndrome type V (STL5; 614284), caused by mutation in the COL9A2 gene (120260) on chromosome 1p34. A disorder previously designated Stickler syndrome type III (STL3), or 'nonocular Stickler syndrome,' has been reclassified as a form of otospondylomegaepiphyseal dysplasia (OSMEDA; 184840).  http://www.omim.org/entry/108300
From MedlinePlus Genetics
Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals.\n\nA characteristic feature of Stickler syndrome is a somewhat flattened facial appearance. This appearance results from underdeveloped bones in the middle of the face, including the cheekbones and the bridge of the nose. A particular group of physical features called Pierre Robin sequence is also common in people with Stickler syndrome. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a tongue that is placed further back than normal (glossoptosis), and a small lower jaw (micrognathia). This combination of features can lead to feeding problems and difficulty breathing.\n\nMany people with Stickler syndrome have severe nearsightedness (high myopia). In some cases, the clear gel that fills the eyeball (the vitreous) has an abnormal appearance, which is noticeable during an eye examination. Other eye problems are also common, including increased pressure within the eye (glaucoma), clouding of the lens of the eyes (cataracts), and tearing of the lining of the eye (retinal detachment). These eye abnormalities cause impaired vision or blindness in some cases.\n\nA condition similar to Stickler syndrome, called Marshall syndrome, is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and early-onset arthritis. Marshall syndrome can also include short stature. Some researchers have classified Marshall syndrome as a variant of Stickler syndrome, while others consider it to be a separate disorder.\n\nIn people with Stickler syndrome, hearing loss varies in degree and may become more severe over time. The hearing loss may be sensorineural, meaning that it results from changes in the inner ear, or conductive, meaning that it is caused by abnormalities of the middle ear.\n\nMost people with Stickler syndrome have skeletal abnormalities that affect the joints. The joints of affected children and young adults may be loose and very flexible (hypermobile), though joints become less flexible with age. Arthritis often appears early in life and may cause joint pain or stiffness. Problems with the bones of the spine (vertebrae) can also occur, including abnormal curvature of the spine (scoliosis or kyphosis) and flattened vertebrae (platyspondyly). These spinal abnormalities may cause back pain.\n\nResearchers have described several types of Stickler syndrome, which are distinguished by their genetic causes and their patterns of signs and symptoms. In particular, the eye abnormalities and severity of hearing loss differ among the types. Type I has the highest risk of retinal detachment. Type II also includes eye abnormalities, but type III does not (and is often called non-ocular Stickler syndrome). Types II and III are more likely than type I to have significant hearing loss. Types IV, V, and VI are very rare and have each been diagnosed in only a few individuals.  https://medlineplus.gov/genetics/condition/stickler-syndrome

Clinical features

From HPO
Arachnodactyly
MedGen UID:
2047
Concept ID:
C0003706
Congenital Abnormality
Abnormally long and slender fingers ("spider fingers").
Irregular femoral epiphysis
MedGen UID:
340592
Concept ID:
C1850658
Finding
Abnormality of femoral epiphysis
MedGen UID:
870585
Concept ID:
C4025034
Anatomical Abnormality
An anomaly of a growth plate of a femur.
Mitral valve prolapse
MedGen UID:
7671
Concept ID:
C0026267
Disease or Syndrome
A fairly common and often benign valvular heart disorder characterized by redundancy or hooding of mitral valve leaflets so that they prolapse into the left atrium, often causing mitral regurgitation. It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia.
Disproportionate tall stature
MedGen UID:
323048
Concept ID:
C1836996
Finding
A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.
Conductive hearing impairment
MedGen UID:
9163
Concept ID:
C0018777
Disease or Syndrome
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
Sensorineural hearing loss
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Arachnodactyly
MedGen UID:
2047
Concept ID:
C0003706
Congenital Abnormality
Abnormally long and slender fingers ("spider fingers").
Arthropathy
MedGen UID:
7190
Concept ID:
C0022408
Disease or Syndrome
Any disorder of the joints.
Kyphosis
MedGen UID:
44042
Concept ID:
C0022821
Anatomical Abnormality
Exaggerated anterior convexity of the thoracic vertebral column.
Osteoarthritis
MedGen UID:
45244
Concept ID:
C0029408
Disease or Syndrome
Osteoarthritis (OA) is a degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis (Meulenbelt et al., 2006). Clinical problems include pain and joint stiffness often leading to significant disability and joint replacement. Osteoarthritis exhibits a clear predilection for specific joints; it appears most commonly in the hip and knee joints and lumbar and cervical spine, as well as in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints of the hand; however, patients with osteoarthritis may have 1, a few, or all of these sites affected (Stefansson et al., 2003). According to a conservative estimate, greater than 70% of the population of the United States at age 65 years is affected by the disease, reflecting its age dependence. Genetic Heterogeneity of Susceptibility to Osteoarthritis Susceptibility to osteoarthritis has been associated with variation in other genes: OS2 (140600) with variation in the MATN3 gene (602109) on chromosome 2p24; OS3 (607850) with variation in the ASPN gene (608135) on chromosome 9q22; and OS5 (612400) with variation in the GDF5 gene (601146) on chromosome 20q11. Other susceptibility loci for osteoarthritis have been mapped to chromosomes 2q33 (OS4; 610839) and 3p24 (OS6; 612401).
Juvenile osteochondrosis of spine
MedGen UID:
19885
Concept ID:
C0036310
Disease or Syndrome
Scheuermann disease is characterized by lumbar or thoracic kyphosis or both, back pain, and a variety of vertebral changes including wedging, endplate irregularity, narrowing of disc spaces, Schmorl nodes, and detached epiphyseal rings. It is reported to occur more frequently in boys than in girls (summary by McKenzie and Sillence, 1992).
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Spondylolisthesis
MedGen UID:
52470
Concept ID:
C0038016
Disease or Syndrome
Spondylolisthesis is defined as forward slipping of a vertebral body on the one below it. Spondylolysis is defined as a defect in the pars interarticularis without vertebral slipping (summary by Wiltse et al., 1975).
Platyspondyly
MedGen UID:
335010
Concept ID:
C1844704
Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Irregular femoral epiphysis
MedGen UID:
340592
Concept ID:
C1850658
Finding
Beaking of vertebral bodies
MedGen UID:
341588
Concept ID:
C1856599
Finding
Anterior tongue-like protrusions of the vertebral bodies.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Anatomical Abnormality
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Pectus excavatum
MedGen UID:
781174
Concept ID:
C2051831
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Spondyloepiphyseal dysplasia congenita
MedGen UID:
412530
Concept ID:
C2745959
Congenital Abnormality
Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).
Abnormality of femoral epiphysis
MedGen UID:
870585
Concept ID:
C4025034
Anatomical Abnormality
An anomaly of a growth plate of a femur.
Robin sequence
MedGen UID:
19310
Concept ID:
C0031900
Congenital Abnormality
Pierre Robin sequence is a craniofacial anomaly comprising mandibular hypoplasia, cleft secondary palate, and glossoptosis leading to life-threatening obstructive apnea and feeding difficulaties during the neonatal period (summary by Tan et al., 2013).
Cleft uvula
MedGen UID:
75600
Concept ID:
C0266122
Congenital Abnormality
Uvula separated into two parts most easily seen at the tip.
Submucous cleft hard palate
MedGen UID:
98472
Concept ID:
C0432103
Congenital Abnormality
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Anteverted nares
MedGen UID:
326648
Concept ID:
C1840077
Finding
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Anatomical Abnormality
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Midface retrusion
MedGen UID:
388629
Concept ID:
C2673410
Finding
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Glaucoma
MedGen UID:
42224
Concept ID:
C0017601
Disease or Syndrome
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.
Retinal detachment
MedGen UID:
19759
Concept ID:
C0035305
Disease or Syndrome
Primary or spontaneous detachment of the retina occurs due to underlying ocular disease and often involves the vitreous as well as the retina. The precipitating event is formation of a retinal tear or hole, which permits fluid to accumulate under the sensory layers of the retina and creates an intraretinal cleavage that destroys the neurosensory process of visual reception. Vitreoretinal degeneration and tear formation are painless phenomena, and in most cases, significant vitreoretinal pathology is found only after detachment of the retina starts to cause loss of vision or visual field. Without surgical intervention, retinal detachment will almost inevitably lead to total blindness (summary by McNiel and McPherson, 1971).
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Acquired Abnormality
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Blindness
MedGen UID:
99138
Concept ID:
C0456909
Disease or Syndrome
Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation.
Membranous vitreous appearance
MedGen UID:
1386132
Concept ID:
C4477006
Anatomical Abnormality
Vitreous humor of the eye displaying consisting of a vestigial gel in the retrolental space bounded by a convoluted membrane.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Pyeritz RE; American College of Medical Genetics and Genomics.
Genet Med 2012 Jan;14(1):171-7. Epub 2012 Jan 5 doi: 10.1038/gim.2011.48. PMID: 22237449

Recent clinical studies

Etiology

Chu FC, Hii LY, Hung TH, Lo LM, Hsieh TT, Shaw SW
Taiwan J Obstet Gynecol 2021 Mar;60(2):359-362. doi: 10.1016/j.tjog.2021.01.017. PMID: 33678343
Higuchi Y, Hasegawa K, Yamashita M, Tanaka H, Tsukahara H
J Med Case Rep 2017 Aug 26;11(1):237. doi: 10.1186/s13256-017-1396-y. PMID: 28841907Free PMC Article
Yoon JM, Jang MA, Ki CS, Kim SJ
Ann Lab Med 2016 Mar;36(2):166-9. doi: 10.3343/alm.2016.36.2.166. PMID: 26709265Free PMC Article
Suemori S, Sawada A, Shiraki I, Mochizuki K
Semin Ophthalmol 2014 Jan;29(1):45-7. Epub 2013 Oct 28 doi: 10.3109/13506129.2013.839805. PMID: 24164106
Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Björck E, Bonduelle M, Boute O, Cormier-Daire V, De Die-Smulders C, Dieux-Coeslier A, Dollfus H, Elting M, Green A, Guerci VI, Hennekam RC, Hilhorts-Hofstee Y, Holder M, Hoyng C, Jones KJ, Josifova D, Kaitila I, Kjaergaard S, Kroes YH, Lagerstedt K, Lees M, Lemerrer M, Magnani C, Marcelis C, Martorell L, Mathieu M, McEntagart M, Mendicino A, Morton J, Orazio G, Paquis V, Reish O, Simola KO, Smithson SF, Temple KI, Van Aken E, Van Bever Y, van den Ende J, Van Hagen JM, Zelante L, Zordania R, De Paepe A, Leroy BP, De Buyzere M, Coucke PJ, Mortier GR
Eur J Hum Genet 2010 Aug;18(8):872-80. Epub 2010 Feb 24 doi: 10.1038/ejhg.2010.23. PMID: 20179744Free PMC Article

Diagnosis

Tomčíková D, Bušányová B, Krásnik V, Gerinec A
Cesk Slov Oftalmol Winter 2018;74(3):108-111. doi: 10.31348/2018/1/5-3-2018. PMID: 30650974
Chu FC, Hii LY, Hung TH, Lo LM, Hsieh TT, Shaw SW
Taiwan J Obstet Gynecol 2021 Mar;60(2):359-362. doi: 10.1016/j.tjog.2021.01.017. PMID: 33678343
Higuchi Y, Hasegawa K, Yamashita M, Tanaka H, Tsukahara H
J Med Case Rep 2017 Aug 26;11(1):237. doi: 10.1186/s13256-017-1396-y. PMID: 28841907Free PMC Article
Yoon JM, Jang MA, Ki CS, Kim SJ
Ann Lab Med 2016 Mar;36(2):166-9. doi: 10.3343/alm.2016.36.2.166. PMID: 26709265Free PMC Article
Suemori S, Sawada A, Shiraki I, Mochizuki K
Semin Ophthalmol 2014 Jan;29(1):45-7. Epub 2013 Oct 28 doi: 10.3109/13506129.2013.839805. PMID: 24164106

Therapy

Onesimo R, De Rose C, Cipolla C, Casa SD, Leoni C, Salerni A, Ricci D, Zampino G
Ital J Pediatr 2020 Dec 1;46(1):178. doi: 10.1186/s13052-020-00945-x. PMID: 33256801Free PMC Article
Boysen KB, La Cour M, Kessel L
Ophthalmic Genet 2020 Jun;41(3):223-234. Epub 2020 Apr 21 doi: 10.1080/13816810.2020.1747092. PMID: 32316871
Wubben TJ, Branham KH, Besirli CG, Bohnsack BL
Ophthalmic Genet 2018 Oct;39(5):615-618. Epub 2018 Aug 21 doi: 10.1080/13816810.2018.1509355. PMID: 30130436
Carroll C, Papaioannou D, Rees A, Kaltenthaler E
Health Technol Assess 2011 Apr;15(16):iii-xiv, 1-62. doi: 10.3310/hta15160. PMID: 21466760Free PMC Article

Prognosis

Swanson D, Ba'th F, Zavala H, Chinnadurai S, Roby BB
Int J Pediatr Otorhinolaryngol 2021 Jul;146:110749. Epub 2021 Apr 29 doi: 10.1016/j.ijporl.2021.110749. PMID: 34004386
Zimmermann J, Stubbs DJ, Richards AJ, Alexander P, McNinch AM, Matta B, Snead MP
Anesth Analg 2021 Jan;132(1):202-209. doi: 10.1213/ANE.0000000000004582. PMID: 31856005Free PMC Article
Jackson OA, Kaye AE, Lee A, Minugh-Purvis N, Cohen MA, Solot CB, McDonald-McGinn D, Jawad AF, Zackai EH, Kirschner RE
Ann Plast Surg 2020 Jun;84(6):665-671. doi: 10.1097/SAP.0000000000002114. PMID: 31913900
Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Björck E, Bonduelle M, Boute O, Cormier-Daire V, De Die-Smulders C, Dieux-Coeslier A, Dollfus H, Elting M, Green A, Guerci VI, Hennekam RC, Hilhorts-Hofstee Y, Holder M, Hoyng C, Jones KJ, Josifova D, Kaitila I, Kjaergaard S, Kroes YH, Lagerstedt K, Lees M, Lemerrer M, Magnani C, Marcelis C, Martorell L, Mathieu M, McEntagart M, Mendicino A, Morton J, Orazio G, Paquis V, Reish O, Simola KO, Smithson SF, Temple KI, Van Aken E, Van Bever Y, van den Ende J, Van Hagen JM, Zelante L, Zordania R, De Paepe A, Leroy BP, De Buyzere M, Coucke PJ, Mortier GR
Eur J Hum Genet 2010 Aug;18(8):872-80. Epub 2010 Feb 24 doi: 10.1038/ejhg.2010.23. PMID: 20179744Free PMC Article
Watanabe Y, Ueda M, Adachi-Usami E
Br J Ophthalmol 1996 Nov;80(11):976-81. doi: 10.1136/bjo.80.11.976. PMID: 8976725Free PMC Article

Clinical prediction guides

Zimmermann J, Stubbs DJ, Richards AJ, Alexander P, McNinch AM, Matta B, Snead MP
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Walters A, Lambert N, Bricel S, Hwang T, Ing E, Tehrani S
J Glaucoma 2020 Oct;29(10):992-994. doi: 10.1097/IJG.0000000000001591. PMID: 32604152Free PMC Article
Čopíková J, Paděrová J, Románková V, Havlovicová M, Balaščáková M, Zelinová M, Vejvalková Š, Simandlová M, Štěpánková J, Hořínová V, Kantorová E, Křečková G, Pospíšilová J, Boday A, Meszarosová AU, Turnovec M, Votýpka P, Lišková P, Kremlíková Pourová R
Ann Hum Genet 2020 Sep;84(5):380-392. Epub 2020 May 19 doi: 10.1111/ahg.12386. PMID: 32427345
Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Björck E, Bonduelle M, Boute O, Cormier-Daire V, De Die-Smulders C, Dieux-Coeslier A, Dollfus H, Elting M, Green A, Guerci VI, Hennekam RC, Hilhorts-Hofstee Y, Holder M, Hoyng C, Jones KJ, Josifova D, Kaitila I, Kjaergaard S, Kroes YH, Lagerstedt K, Lees M, Lemerrer M, Magnani C, Marcelis C, Martorell L, Mathieu M, McEntagart M, Mendicino A, Morton J, Orazio G, Paquis V, Reish O, Simola KO, Smithson SF, Temple KI, Van Aken E, Van Bever Y, van den Ende J, Van Hagen JM, Zelante L, Zordania R, De Paepe A, Leroy BP, De Buyzere M, Coucke PJ, Mortier GR
Eur J Hum Genet 2010 Aug;18(8):872-80. Epub 2010 Feb 24 doi: 10.1038/ejhg.2010.23. PMID: 20179744Free PMC Article
Watanabe Y, Ueda M, Adachi-Usami E
Br J Ophthalmol 1996 Nov;80(11):976-81. doi: 10.1136/bjo.80.11.976. PMID: 8976725Free PMC Article

Recent systematic reviews

Boysen KB, La Cour M, Kessel L
Ophthalmic Genet 2020 Jun;41(3):223-234. Epub 2020 Apr 21 doi: 10.1080/13816810.2020.1747092. PMID: 32316871
Wang DD, Gao FJ, Hu FY, Zhang SH, Xu P, Wu JH
BMC Med Genet 2020 Feb 10;21(1):27. doi: 10.1186/s12881-020-0963-z. PMID: 32039712Free PMC Article
Acke FR, Dhooge IJ, Malfait F, De Leenheer EM
Orphanet J Rare Dis 2012 Oct 30;7:84. doi: 10.1186/1750-1172-7-84. PMID: 23110709Free PMC Article
Carroll C, Papaioannou D, Rees A, Kaltenthaler E
Health Technol Assess 2011 Apr;15(16):iii-xiv, 1-62. doi: 10.3310/hta15160. PMID: 21466760Free PMC Article

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