Term Name: | Bietti crystalline corneoretinal dystrophy |
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Synonyms: | Bietti's crystalline dystrophy |
Definition: | 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. |
Ontology: | Human Disease [DOID:0050664] ( DOID:0050664 ) |