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Identification of a Novel Mutation in the CDHR1Gene in a Family With Recessive Retinal Degeneration

Identification of a Novel Mutation in the CDHR1Gene in a Family With Recessive Retinal Degeneration OPHTHALMIC MOLECULAR GENETICS SECTION EDITOR: JANEY L. WIGGS, MD, PhD Identification of a Novel Mutation in the CDHR1 Gene in a Family With Recessive Retinal Degeneration Jacque L. Duncan, MD; Austin Roorda, PhD; Mili Navani; Sangeetha Vishweswaraiah, MSc; Reema Syed, MBBS; Shiri Soudry, MD; Kavitha Ratnam, BS; Harini V. Gudiseva, MSc, MS; Pauline Lee, PhD; Terry Gaasterland, PhD; Radha Ayyagari, PhD Objectives: To describe the clinical phenotype and iden- gene, which segregated with retinal degeneration in this tify the molecular basis of disease in a consanguineous family. Affected members had night blindness begin- family of Palestinian origin with autosomal recessive reti- ning during adolescence with progressive visual acuity nal degeneration. and field loss and unmeasurable electroretinographic re- sponses, as well as macular outer retinal loss, although Methods: Eight family members were evaluated with residual cones with increased cone spacing were ob- visual acuity and perimetry tests, color fundus photo- served in the youngest individual. graphs, full-field electroretinography, and optical coher- ence tomography. Cone photoreceptors surrounding the Conclusions: Exome analysis revealed a novel CDHR1 fovea were imaged in 2 members, using adaptive optics nonsense mutation segregating with progressive retinal scanning laser ophthalmoscopy. Exome was captured degeneration causing severe central vision http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JAMA Ophthalmology American Medical Association

Identification of a Novel Mutation in the CDHR1Gene in a Family With Recessive Retinal Degeneration

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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.2012.1906
pmid
23044944
Publisher site
See Article on Publisher Site

Abstract

OPHTHALMIC MOLECULAR GENETICS SECTION EDITOR: JANEY L. WIGGS, MD, PhD Identification of a Novel Mutation in the CDHR1 Gene in a Family With Recessive Retinal Degeneration Jacque L. Duncan, MD; Austin Roorda, PhD; Mili Navani; Sangeetha Vishweswaraiah, MSc; Reema Syed, MBBS; Shiri Soudry, MD; Kavitha Ratnam, BS; Harini V. Gudiseva, MSc, MS; Pauline Lee, PhD; Terry Gaasterland, PhD; Radha Ayyagari, PhD Objectives: To describe the clinical phenotype and iden- gene, which segregated with retinal degeneration in this tify the molecular basis of disease in a consanguineous family. Affected members had night blindness begin- family of Palestinian origin with autosomal recessive reti- ning during adolescence with progressive visual acuity nal degeneration. and field loss and unmeasurable electroretinographic re- sponses, as well as macular outer retinal loss, although Methods: Eight family members were evaluated with residual cones with increased cone spacing were ob- visual acuity and perimetry tests, color fundus photo- served in the youngest individual. graphs, full-field electroretinography, and optical coher- ence tomography. Cone photoreceptors surrounding the Conclusions: Exome analysis revealed a novel CDHR1 fovea were imaged in 2 members, using adaptive optics nonsense mutation segregating with progressive retinal scanning laser ophthalmoscopy. Exome was captured degeneration causing severe central vision

Journal

JAMA OphthalmologyAmerican Medical Association

Published: Oct 1, 2012

References