Fundus albipunctatus associated with compound heterozygous mutations in RPE65

Patrik Schatz; Markus Preising; Birgit Lorenz; Birgit Sander; Michael Larsen; Thomas Rosenberg

doi:10.1016/j.ophtha.2010.09.005

Fundus albipunctatus associated with compound heterozygous mutations in RPE65

Patrik Schatz, Markus Preising, Birgit Lorenz, Birgit Sander, Michael Larsen, Thomas Rosenberg

68 Citations (Scopus)

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.

Original language	English
Journal	Ophthalmology
Volume	118
Issue number	5
Pages (from-to)	888-94
Number of pages	7
ISSN	0161-6420
DOIs	https://doi.org/10.1016/j.ophtha.2010.09.005
Publication status	Published - 2011

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

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10.1016/j.ophtha.2010.09.005

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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",

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",

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TY - JOUR

T1 - Fundus albipunctatus associated with compound heterozygous mutations in RPE65

AU - Schatz, Patrik

AU - Preising, Markus

AU - Lorenz, Birgit

AU - Sander, Birgit

AU - Larsen, Michael

AU - Rosenberg, Thomas

PY - 2011

Y1 - 2011

N2 - 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.

AB - 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.

KW - Adolescent

KW - Alcohol Oxidoreductases

KW - Carrier Proteins

KW - DNA Mutational Analysis

KW - Dark Adaptation

KW - Electroretinography

KW - Eye Proteins

KW - Female

KW - Heterozygote

KW - Humans

KW - Male

KW - Middle Aged

KW - Mutation

KW - Night Blindness

KW - Pedigree

KW - Polymerase Chain Reaction

KW - Retinal Degeneration

KW - Tomography, Optical Coherence

KW - Visual Acuity

KW - Young Adult

U2 - 10.1016/j.ophtha.2010.09.005

DO - 10.1016/j.ophtha.2010.09.005

M3 - Journal article

C2 - 21211845

SN - 0161-6420

VL - 118

SP - 888

EP - 894

JO - Ophthalmology

JF - Ophthalmology

IS - 5

ER -

Fundus albipunctatus associated with compound heterozygous mutations in RPE65

Abstract

Keywords

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