Fundus albipunctatus associated with compound heterozygous mutations in RPE65.

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Abstract

To describe a family with an 18-year-old woman with fundus albipunctatus and compound heterozygous mutations in RPE65 whose unaffected parents and 1 female sibling harbored single heterozygous RPE65 mutations.

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Journal

Journal ID (iso-abbrev): Ophthalmology

Title: Ophthalmology

Publisher: Elsevier BV

ISSN (Electronic): 1549-4713

ISSN (Print): 0161-6420

Publication date (Electronic): May 2011

Volume: 118

Issue: 5

Affiliations

[1 ] Department of Ophthalmology, Glostrup Hospital, University of Copenhagen, Copenhagen, Denmark. patrik.schatz@med.lu.se

Article

Publisher Item ID: S0161-6420(10)00973-5

DOI: 10.1016/j.ophtha.2010.09.005

PubMed ID: 21211845

SO-VID: 0cd48919-7626-40f5-9868-6a532b3e49ef

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