Gene Role Disease OMIM Descriptions Sources
OPN1MW causing BCM 303700 The disease is caused by mutations affecting the gene represented in this entry. A rare X-linked congenital stationary cone dysfunction syndrome characterized by the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina. Color discrimination is severely impaired from birth, and vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. BCM typically presents with reduced visual acuity, pendular nystagmus, and photophobia. Patients often have myopia. [read more] 8666378
PDE6B causing CSNBAD2 163500 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] 8075643
POMGNT1 causing MDDGA3 253280 The disease is caused by mutations affecting the gene represented in this entry. An autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, cobblestone lissencephaly, and cerebellar and pontine hypoplasia. Patients present severe congenital myopia, congenital glaucoma, pallor of the optic disks, retinal hypoplasia, mental retardation, hydrocephalus, abnormal electroencephalograms, generalized muscle weakness and myoclonic jerks. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. [read more] 11709191
15207699
12588800
12788071
15236414
15466003
17030669
19067344
POMGNT1 causing MDDGB3 613151 The disease is caused by mutations affecting the gene represented in this entry. An autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities. Clinical features include mental retardation, white matter changes, cerebellar cysts, pontine hypoplasia, myopia, optic atrophy, decreased alpha-dystroglycan on muscle biopsy and increased serum creatine kinase. [read more]
PRIMPOL causing MYP22 615420 The disease is caused by mutations affecting the gene represented in this entry. A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. [read more] 23579484
RHO causing CSNBAD1 610445 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] 8358437
7846071
9888392
RPGR causing CORDX1 304020 The disease is caused by mutations affecting the gene represented in this entry. An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. In cone-rod dystrophy X-linked type 1 the degree of rod-photoreceptor involvement can be variable, with degeneration increasing as the disease progresses. Affected individuals (essentially all of whom are males) present with decreased visual acuity, myopia, photophobia, abnormal color vision, full peripheral visual fields, decreased photopic electroretinographic responses, and granularity of the macular retinal pigment epithelium. Although penetrance appears to be nearly 100%, there is variable expressivity with respect to age at onset and severity of symptoms. [read more] 11857109
SAG causing CSNBO1 258100 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. Congenital stationary night blindness Oguchi type is an autosomal recessive form associated with fundus discoloration and abnormally slow dark adaptation. [read more] 7670478
SCO2 causing MYP6 608908 The disease is caused by mutations affecting the gene represented in this entry. A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. [read more] 23643385
SIX1 BOR Defects in SIX1 could be a cause of branchiootorenal syndrome (BOR). BOR is an autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to mondini type cochlear defect and stapes fixation. Penetrance of BOR syndrome is high, although expressivity can be extremely variable. [read more] 21280147