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Clinical Characteristics of a Large Choroideremia Pedigree Carrying a Novel CHMMutation

Clinical Characteristics of a Large Choroideremia Pedigree Carrying a Novel CHMMutation OPHTHALMIC MOLECULAR GENETICS SECTION EDITOR: JANEY L. WIGGS, MD, PhD Clinical Characteristics of a Large Choroideremia Pedigree Carrying a Novel CHM Mutation Alex S. Huang, MD, PhD; Leo A. Kim, MD, PhD; Amani A. Fawzi, MD Objective: To describe a large family with a novel mu- ing subfoveal loss or absence of retinal pigment epithe- tation in CHM. lium correlated with vision loss in both sexes. Spectral do- main optical coherence tomography demonstrated dynamic Methods: Family members were characterized using changes and remodeling of the outer retina over time, in- clinical examination, wide-field fundus photography, cluding focal thickening, drusenlike deposits, and disrup- wide-field autofluorescence, and spectral domain opti- tion to photoreceptor inner segment and outer segment cal coherence tomography. The CHM mutation was iden- junctions in young female carriers. tified with the National Institutes of Health–sponsored eyeGene program. Conclusions: CHM (T1194G) is a novel mutation that manifests a wide range of phenotypic variability in a single Results: A novel nonsense CHM mutation (T1194G), re- family with a trend toward more severe phenotypes in sulting in a premature stop (Y398X) and loss of the final older female carriers. Our findings emphasize the im- one-third C-terminal portion of the protein, was http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JAMA Ophthalmology American Medical Association

Clinical Characteristics of a Large Choroideremia Pedigree Carrying a Novel CHMMutation

Huang, Alex S.; Kim, Leo A.; Fawzi, Amani A.
JAMA Ophthalmology , Volume 130 (9) – Sep 1, 2012
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References (28)

Publisher
American Medical Association
Copyright
Copyright 2012 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.
ISSN
2168-6165
eISSN
2168-6173
DOI
10.1001/archophthalmol.2012.1117
pmid
22965595
Publisher site
See Article on Publisher Site

Abstract

OPHTHALMIC MOLECULAR GENETICS SECTION EDITOR: JANEY L. WIGGS, MD, PhD Clinical Characteristics of a Large Choroideremia Pedigree Carrying a Novel CHM Mutation Alex S. Huang, MD, PhD; Leo A. Kim, MD, PhD; Amani A. Fawzi, MD Objective: To describe a large family with a novel mu- ing subfoveal loss or absence of retinal pigment epithe- tation in CHM. lium correlated with vision loss in both sexes. Spectral do- main optical coherence tomography demonstrated dynamic Methods: Family members were characterized using changes and remodeling of the outer retina over time, in- clinical examination, wide-field fundus photography, cluding focal thickening, drusenlike deposits, and disrup- wide-field autofluorescence, and spectral domain opti- tion to photoreceptor inner segment and outer segment cal coherence tomography. The CHM mutation was iden- junctions in young female carriers. tified with the National Institutes of Health–sponsored eyeGene program. Conclusions: CHM (T1194G) is a novel mutation that manifests a wide range of phenotypic variability in a single Results: A novel nonsense CHM mutation (T1194G), re- family with a trend toward more severe phenotypes in sulting in a premature stop (Y398X) and loss of the final older female carriers. Our findings emphasize the im- one-third C-terminal portion of the protein, was

Journal

JAMA Ophthalmology – American Medical Association

Published: Sep 1, 2012

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