Abnormality in the external limiting membrane in early Stargardt disease

Tomas R Burke; Suzanne Yzer; Jana Zernant; R Theodore Smith; Stephen H Tsang; Rando Allikmets

doi:10.3109/13816810.2012.707271

Abnormality in the external limiting membrane in early Stargardt disease

Tomas R Burke, Suzanne Yzer, Jana Zernant, R Theodore Smith, Stephen H Tsang, Rando Allikmets

Medical retina and Uveitis

Research output: Contribution to journal › Article › Research › peer-review

Abstract

Stargardt disease (STGD1) is caused by mutations in the ABCA4 gene. It has previously been reported that abnormalities in STGD1 may be detectable in the photoreceptors using spectral domain-optical coherence tomography (SD-OCT) prior to the detection of retinal pigment epithelium abnormalities. We present a 5-year-old asymptomatic girl with normal appearing fundi who possessed pathogenic ABCA4 variants on both chromosomes and where thickening of the external limiting membrane was the only abnormality detected on SD-OCT.

Original language	English
Pages (from-to)	75-7
Number of pages	3
Journal	Ophthalmic Genetics
Volume	34
Issue number	1-2
DOIs	https://doi.org/10.3109/13816810.2012.707271
Publication status	Published - Mar 2013

Keywords

ATP-Binding Cassette Transporters/genetics
Adult
Basement Membrane/pathology
Child, Preschool
Female
Humans
Macular Degeneration/congenital
Pedigree
Photoreceptor Cells, Vertebrate/pathology
Retinal Pigment Epithelium/pathology
Stargardt Disease
Tomography, Optical Coherence
Visual Acuity/physiology

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10.3109/13816810.2012.707271

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title = "Abnormality in the external limiting membrane in early Stargardt disease",

abstract = "Stargardt disease (STGD1) is caused by mutations in the ABCA4 gene. It has previously been reported that abnormalities in STGD1 may be detectable in the photoreceptors using spectral domain-optical coherence tomography (SD-OCT) prior to the detection of retinal pigment epithelium abnormalities. We present a 5-year-old asymptomatic girl with normal appearing fundi who possessed pathogenic ABCA4 variants on both chromosomes and where thickening of the external limiting membrane was the only abnormality detected on SD-OCT.",

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author = "Burke, {Tomas R} and Suzanne Yzer and Jana Zernant and Smith, {R Theodore} and Tsang, {Stephen H} and Rando Allikmets",

year = "2013",

month = mar,

doi = "10.3109/13816810.2012.707271",

language = "English",

volume = "34",

pages = "75--7",

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T1 - Abnormality in the external limiting membrane in early Stargardt disease

AU - Burke, Tomas R

AU - Yzer, Suzanne

AU - Zernant, Jana

AU - Smith, R Theodore

AU - Tsang, Stephen H

AU - Allikmets, Rando

PY - 2013/3

Y1 - 2013/3

N2 - Stargardt disease (STGD1) is caused by mutations in the ABCA4 gene. It has previously been reported that abnormalities in STGD1 may be detectable in the photoreceptors using spectral domain-optical coherence tomography (SD-OCT) prior to the detection of retinal pigment epithelium abnormalities. We present a 5-year-old asymptomatic girl with normal appearing fundi who possessed pathogenic ABCA4 variants on both chromosomes and where thickening of the external limiting membrane was the only abnormality detected on SD-OCT.

AB - Stargardt disease (STGD1) is caused by mutations in the ABCA4 gene. It has previously been reported that abnormalities in STGD1 may be detectable in the photoreceptors using spectral domain-optical coherence tomography (SD-OCT) prior to the detection of retinal pigment epithelium abnormalities. We present a 5-year-old asymptomatic girl with normal appearing fundi who possessed pathogenic ABCA4 variants on both chromosomes and where thickening of the external limiting membrane was the only abnormality detected on SD-OCT.

KW - ATP-Binding Cassette Transporters/genetics

KW - Adult

KW - Basement Membrane/pathology

KW - Child, Preschool

KW - Female

KW - Humans

KW - Macular Degeneration/congenital

KW - Pedigree

KW - Photoreceptor Cells, Vertebrate/pathology

KW - Retinal Pigment Epithelium/pathology

KW - Stargardt Disease

KW - Tomography, Optical Coherence

KW - Visual Acuity/physiology

U2 - 10.3109/13816810.2012.707271

DO - 10.3109/13816810.2012.707271

M3 - Article

C2 - 22871184

SN - 1381-6810

VL - 34

SP - 75

EP - 77

JO - Ophthalmic Genetics

JF - Ophthalmic Genetics

IS - 1-2

ER -

Abnormality in the external limiting membrane in early Stargardt disease

Abstract

Keywords

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