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Documenta Ophthalmologica
Published in: Documenta Ophthalmologica 1/2014

01-02-2014 | Clinical Case Report

Disease progression in autosomal dominant cone–rod dystrophy caused by a novel mutation (D100G) in the GUCA1A gene

Authors: Eva Nong, Winston Lee, Joanna E. Merriam, Rando Allikmets, Stephen H. Tsang

Published in: Documenta Ophthalmologica | Issue 1/2014

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Abstract

Purpose

To document longitudinal fundus autofluorescence (FAF) and electroretinogram (ERG) findings in a family with cone–rod dystrophy (CRD) caused by a novel missense mutation (D100G) in the GUCA1A gene.

Methods

Observational case series.

Results

Three family members 26–49 years old underwent complete clinical examinations. In all patients, funduscopic findings showed intraretinal pigment migration, loss of neurosensory retinal pigment epithelium, and macular atrophy. FAF imaging revealed the presence of a progressive hyperautofluorescent ring around a hypoautofluorescent center corresponding to macular atrophy. Full-field ERGs showed a more severe loss of cone than rod function in each patient. Thirty-hertz flicker responses fell far below normal limits. Longitudinal FAF and ERG findings in one patient suggested progressive CRD. Two more advanced patients exhibited reduced rod response consistent with disease stage. Direct sequencing of the GUCA1A gene revealed a new missense mutation, p.Asp100Gly (D100G), in each patient.

Conclusion

Patients with autosomal dominant CRD caused by a D100G mutation in GUCA1A exhibit progressive vision loss early within the first decade of life identifiable by distinct ERG characteristics and subsequent genetic testing.
Appendix
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Metadata
Title
Disease progression in autosomal dominant cone–rod dystrophy caused by a novel mutation (D100G) in the GUCA1A gene
Authors
Eva Nong
Winston Lee
Joanna E. Merriam
Rando Allikmets
Stephen H. Tsang
Publication date
01-02-2014
Publisher
Springer Berlin Heidelberg
Published in
Documenta Ophthalmologica / Issue 1/2014
Print ISSN: 0012-4486
Electronic ISSN: 1573-2622
DOI
https://doi.org/10.1007/s10633-013-9420-z

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