MeSH Browser

MeSH Supplementary: Bietti Crystalline Dystrophy
Unique ID: C535440
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535440
Entry Term(s): Bietti Crystalline Corneoretinal Dystrophy; Bietti Crystalline Retinopathy; Bietti tapetoretinal degeneration with marginal corneal dystrophy; Bietti's crystalline corneoretinal dystrophy; Bietti's crystalline dystrophy
Heading Mapped to: *Corneal Dystrophies, Hereditary; *Retinal Diseases
Frequency: 85
Note: 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 of Entry: 2010/08/25
Revision Date: 2015/08/17

Bietti Crystalline Dystrophy MeSH Supplementary Concept Data 2024