Novel compound heterozygous mutation in the POC1B gene underlie peripheral cone dystrophy in a Chinese family.

doi:10.1080/13816810.2018.1430239

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Article

Novel compound heterozygous mutation in the POC1B gene underlie peripheral cone dystrophy in a Chinese family.

Ophthalmic genetics - 1 Jun 2018

Jin Xin, Chen Lanlan, Wang Dajiang, Zhang Yixin, Chen Zehua, Huang Houbin

Abstract excerpt

PURPOSE: To describe the clinical characteristics of a Chinese family with peripheral cone dystrophy (PCD) and identify the gene mutations causing PCD. METHODS: The Chinese PCD pedigree underwent comprehensive ophthalmic examinations, including visual acuity, slit lamp examination, fundoscopy, visual field examination, autofluorescence, fluorescence fundus angiography and indocyanine green angiography, full-field...

Topics

Adult
Asian People
Cell Cycle Proteins
Cone-Rod Dystrophies
Female
Heterozygote
Humans
Male
Mutation
Pedigree
Retinitis Pigmentosa

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PMID: 29377742
DOI: 10.1080/13816810.2018.1430239

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