Conditions / Eye
Bietti crystalline corneoretinal dystrophy
info · Eye
A retinal degeneration that is characterized by crystals in the cornea, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaris and choroid, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygo
A retinal degeneration that is characterized by crystals in the cornea, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaris and choroid, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CYP4V2 gene on chromosome 4q35.
Signs and symptoms
- Reduced visual acuity
- Corneal crystals
- Constriction of peripheral visual field
- Progressive visual loss
- Marginal corneal dystrophy
- Retinal degeneration
- Progressive night blindness
- Paracentral scotoma
- Chorioretinal atrophy
- High myopia
Also known as: Bietti's crystalline dystrophy