Bietti Crystalline Dystrophy [Supplementary Concept]
A rare hereditary form of retinal degeneration that occurs more frequently in persons of East Asian descent. Inheritance is autosomal recessive and onset is typically in young adulthood. It is characterized by the accumulation of numerous lipid vesicles over the FUNDUS OCULI; SCLEROSIS of the CHORIOID vessels, progressive NIGHT BLINDNESS, and constriction of the VISUAL FIELDS. Mutations in the CYP4V2 gene have been identified. OMIM: 210370
Date introduced: August 25, 2010
MeSH Unique ID: C535440
Heading Mapped to:
Entry Terms:
- Bietti's crystalline corneoretinal dystrophy
- Bietti Crystalline Retinopathy
- Bietti Crystalline Corneoretinal Dystrophy
- Bietti's crystalline dystrophy
- Bietti tapetoretinal degeneration with marginal corneal dystrophy