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Article

New best1 mutations in autosomal recessive bestrophinopathy.

Retina (Philadelphia, Pa.) - 1 Apr 2015

Fung Adrian T, Yzer Suzanne, Goldberg Naomi, Wang Hao, Nissen Michael, Giovannini Alfonso, Merriam Joanna E, Bukanova Elena N, Cai Carolyn, Yannuzzi Lawrence A, Tsang Stephen H, Allikmets Rando

Abstract excerpt

PURPOSE: To report the ocular phenotype in patients with autosomal recessive bestrophinopathy and carriers, and to describe novel BEST1 mutations. METHODS: Patients with clinically suspected and subsequently genetically proven autosomal recessive bestrophinopathy underwent full ophthalmic examination and investigation with fundus autofluorescence imaging, spectral domain optical coherence tomography,...

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Source

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Identifiers

PMID: 25545482
DOI: 10.1097/IAE.0000000000000387
PMCID: PMC4425987

Genes

BEST1

Provenance

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