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GTR Home > Conditions/Phenotypes > Bietti crystalline corneoretinal dystrophy

Bietti crystalline corneoretinal dystrophy

Synonyms
BIETTI TAPETORETINAL DEGENERATION WITH MARGINAL CORNEAL DYSTROPHY; Bietti Crystalline Dystrophy
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Bietti crystalline dystrophy (BCD) is a chorioretinal degeneration characterized by the presence of yellow-white crystals and/or complex lipid deposits in the retina and (to a variable degree) the cornea. Progressive atrophy and degeneration of the retinal pigment epithelium (RPE) / choroid lead to symptoms similar to those of other forms of retinal degeneration that fall under the category of retinitis pigmentosa and allied disorders, namely: reduced visual acuity, poor night vision, abnormal retinal electrophysiology, visual field loss, and often impaired color vision. Marked asymmetry between eyes is not uncommon. Onset is typically during the second to third decade of life, but ranges from the early teenage years to beyond the third decade. With time, loss of peripheral visual field, central acuity, or both result in legal blindness in most if not all affected individuals. [from GeneReviews]

Available tests

32 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (32 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BCD, CYP4AH1, CYP4V2
    Summary: cytochrome P450 family 4 subfamily V member 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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