@article{cd4a40b604bd4e418166b464ab7692f7,
title = "Fundus albipunctatus associated with compound heterozygous mutations in RPE65",
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.",
keywords = "Adolescent, Alcohol Oxidoreductases, Carrier Proteins, DNA Mutational Analysis, Dark Adaptation, Electroretinography, Eye Proteins, Female, Heterozygote, Humans, Male, Middle Aged, Mutation, Night Blindness, Pedigree, Polymerase Chain Reaction, Retinal Degeneration, Tomography, Optical Coherence, Visual Acuity, Young Adult",
author = "Patrik Schatz and Markus Preising and Birgit Lorenz and Birgit Sander and Michael Larsen and Thomas Rosenberg",
note = "Copyright {\textcopyright} 2011 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.",
year = "2011",
doi = "10.1016/j.ophtha.2010.09.005",
language = "English",
volume = "118",
pages = "888--94",
journal = "Ophthalmology",
issn = "0161-6420",
publisher = "Elsevier Inc",
number = "5",
}