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Article

Bietti crystalline corneoretinal dystrophy associated with CYP4V2 gene mutations.

Advances in experimental medicine and biology - 1 Jan 2006

Nakamura Makoto, Lin Jian, Nishiguchi Koji, Kondo Mineo, Sugita Jiro, Miyake Yozo

Abstract excerpt

Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive chorioretinal dystrophy characterized by progressive night blindness, tiny, yellowish, glistening retinal crystals, choroidal sclerosis, and crystalline deposits in the peripheral cornea. Recent studies have demonstrated t...

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PMID: 17249554
DOI: 10.1007/0-387-32442-9_8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17249554-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Bietti crystalline corneoretinal dystrophy associated with CYP4V2 gene mutations.PMID 17249554Read ↗

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A Novel Compound Heterozygous Mutation in the <i>CYP4V2</i> Gene in a Japanese Patient with Bietti’s Crystalline Corneoretinal DystrophySemantic proximity Read ↗

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