Gene Role Disease OMIM Descriptions Sources
ADAMTS10 causing WMS1 277600 The disease is caused by mutations affecting the gene represented in this entry. A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma. [read more] 15368195
18567016
ADAMTS17 causing WMLS 613195 The disease is caused by mutations affecting the gene represented in this entry. A disorder characterized by many of the key features of Weill-Marchesani syndrome, including lenticular myopia, ectopia lentis, glaucoma, spherophakia and short stature. However, the characteristic brachydactyly or decreased joint flexibility of Weill-Marchesani syndrome are absent. [read more] 19836009
CABP4 causing CSNB2B 610427 The disease is caused by mutations affecting the gene represented in this entry. A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. [read more] 16960802
CACNA1F causing AIED 300600 The disease is caused by mutations affecting the gene represented in this entry. A retinal disease characterized by a combination of fundus hypopigmentation, decreased visual acuity due to foveal hypoplasia, nystagmus, astigmatism, protan color vision defect, myopia, and defective dark adaptation. Except for progression of axial myopia, the disease can be considered to be a stationary condition. Electroretinography reveals abnormalities in both photopic and scotopic functions. [read more] 17525176
CACNA1F causing CSNB2A 300071 The disease is caused by mutations affecting the gene represented in this entry. A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. [read more] 9662399
9662400
11281458
12111638
12187427
15897456
CBS causing CBSD 236200 The disease is caused by mutations affecting the gene represented in this entry. An enzymatic deficiency resulting in altered sulfur metabolism and homocystinuria. The clinical features of untreated homocystinuria due to CBS deficiency include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling Marfan syndrome, and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine. [read more] 1301198
8353501
7506602
7981678
7849717
7967489
7611293
7762555
7635485
8528202
7564249
8755636
8803779
9156316
9361025
8990018
9266356
10462600
10215408
9889017
10408774
11013450
11359213
11553052
12007221
12124992
12815602
14635102
15146473
15365998
15993874
16205833
16429402
21520339
21240075
CLDN19 causing HOMG5 248190 The disease is caused by mutations affecting the gene represented in this entry. A progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis associated with severe ocular abnormalities such as bilateral chorioretinal scars, macular colobomata, significant myopia and nystagmus. The renal phenotype is virtually undistinguishable from that of patients with HOMG3. [read more] 17033971
CNGB3 causing ACHM3 262300 The disease is caused by mutations affecting the gene represented in this entry. An ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. Achromatopsia type 3 patients manifest severe myopia. [read more] 10888875
10958649
15712225
12357335
14757870
15657609
COL11A1 causing MRSHS 154780 The disease is caused by mutations affecting the gene represented in this entry. An autosomal dominant disorder characterized by ocular abnormalities, deafness, craniofacial anomalies, and anhidrotic ectodermal dysplasia. Clinical features include short stature; flat or retruded midface with short, depressed nose, flat nasal bridge and anteverted nares; cleft palate with or without the Pierre Robin sequence; appearance of large eyes with ocular hypertelorism; cataracts, either congenital or juvenile; esotropia; high myopia; sensorineural hearing loss; spondyloepiphyseal abnormalities; calcification of the falx cerebri; ectodermal abnormalities, including defects in sweating and dental structures. [read more]
COL11A1 causing STL2 604841 The disease is caused by mutations affecting the gene represented in this entry. An autosomal dominant form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable. [read more] 10486316
8872475
20513134