Bietti Crystalline Corneoretinal Dystrophy malady

NIH Rare Diseases: Bietti crystalline corneoretinal dystrophy is an inherited eye disease. Symptoms include crystals in the cornea (the clear covering of the eye); yellow, shiny deposits on the retina; and progressive atrophy of the retina, choriocapillaries and choroid (the back layers of the eye). This tends to lead to progressive night blindness and loss of visual acuity. Bietti crystalline corneoretinal dystrophy is caused by mutations in the CYP4V2 gene and inherited in an autosomal recessive fashion. ³⁰

MalaCards: Bietti Crystalline Corneoretinal Dystrophy, also known as bietti crystalline dystrophy, is related to ectropion inferior cleft lip and or palate and acyl-coa dehydrogenase. An important gene associated with Bietti Crystalline Corneoretinal Dystrophy is CYP4V2 (cytochrome P450, family 4, subfamily V, polypeptide 2). Affiliated tissues include retina.

Genetics Home Reference: Bietti crystalline dystrophy is a disorder in which numerous small, yellow or white crystal-like deposits of fatty (lipid) compounds accumulate in the light-sensitive tissue that lines the back of the eye (the retina). The deposits damage the retina, resulting in progressive vision loss.¹⁷

OMIM: 210370

GeneReviews summary for bietti-cd

Aliases & Descriptions:

bietti crystalline corneoretinal dystrophy 6 7 15 30 16 33 43 bietti crystalline dystrophy 15 16 17 bietti crystalline retinopathy 15 16 bcd 30 17

bietti tapetoretinal degeneration with marginal corneal dystrophy 30 bietti's crystalline retinopathy 43 bietti's crystalline dystrophy 6

Diseases related to bietti crystalline corneoretinal dystrophy by text searches and GeneDecks gene sharing:

id	Related Disease	Score	Top Affiliating Genes
1	ectropion inferior cleft lip and or palate	7.8
2	acyl-coa dehydrogenase	5.8
3	adrenoleukodystrophy	5.8

Clinical features from OMIM: 210370

Approved drugs:

Drug clinical trials:

Genetic tests related to bietti crystalline corneoretinal dystrophy:

id	Genetic test	Affiliating Genes
1	Bietti Crystalline Corneoretinal Dystrophy clinical/research	CYP4V2

MalaCards organs/tissues related to bietti crystalline corneoretinal dystrophy:

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Articles related to bietti crystalline corneoretinal dystrophy:

id	Title	Authors	Year	Affiliating Genes
1	Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy. (21565171)	Xiao X.... Zhang Q.	2011	CYP4V2
2	Bietti crystalline corneoretinal dystrophy associated with CYP4V2 gene mutations. (17249554)	Nakamura M.... Miyake Y.	2006	CYP4V2
3	Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy. (15937078)	Lin J.... Miyake Y.	2005	CYP4V2
4	Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy. (15860296)	Wada Y.... Tamai M.	2005	CYP4V2
5	Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy. (16179904)	Shan M.... Li Y.	2005	CYP4V2
6	Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. (15042513)	Li A.... Hejtmancik J.F.	2004	CYP4V2
7	Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35. (11001583)	Jiao X.... Hejtmancik J.F.	2000	CYP4V2

Genes related to bietti crystalline corneoretinal dystrophy according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	CYP4V2	cytochrome P450, family 4, subfamily V, polypeptide 2	11.1	Publications, Disorders, Summaries