Disease

Bietti crystalline corneoretinal 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.
Synonyms
  • Bietti's crystalline dystrophy
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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