Gene Role Disease OMIM Descriptions Sources
GNAT1 causing CSNBAD3 610444 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] 8673138
GRK1 causing CSNBO2 613411 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 associated with fundus discoloration and abnormally slow dark adaptation. [read more] 9020843
17070587
IRX5 causing HMMS 611174 The disease is caused by mutations affecting the gene represented in this entry. A syndrome characterized by severe hypertelorism, upslanting palpebral fissures, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, and osteopenia with repeated fractures. Additional features include myopia, mild to moderate sensorineural hearing loss, gonadal anomalies and borderline intelligence. [read more] 22581230
LAMB2 causing NPHS5 614199 The disease is caused by mutations affecting the gene represented in this entry. A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. NPHS5 is characterized by very early onset of progressive renal failure. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus. [read more] 21236492
LEPREL1 causing MCVD 614292 The disease is caused by mutations affecting the gene represented in this entry. A disorder characterized by severe myopia with variable expressivity of cataract and vitreoretinal degeneration. Some patients manifest lens subluxation, lens instability and retinal detachment. [read more] 21885030
LRIT3 causing CSNB1F 615058 The disease is caused by mutations affecting the gene represented in this entry. An autosomal recessive form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. [read more] 23246293
LTBP2 causing WMS3 614819 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] 22539340
MSX2 causing CRS2 604757 The disease is caused by mutations affecting the gene represented in this entry. A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. CRS2 is characterized by either fronto-orbital recession, or frontal bossing, or turribrachycephaly, or cloverleaf skull. Associated features include severe headache, high incidence of visual problems (myopia or hyperopia), and short first metatarsals. Intelligence is normal. [read more] 8106171
NYX causing CSNB1A 310500 The disease is caused by mutations affecting the gene represented in this entry. A non-progressive retinal disorder characterized by impaired night vision. Congenital stationary night blindness type 1A is characterized by impaired scotopic vision, myopia, hyperopia, nystagmus and reduced visual acuity. [read more] 11062472
11062471
OPN1LW 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] 8213841
8666378