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Characterizing the Phenotype and Genotype of a Family With Occult Macular Dystrophy

Characterizing the Phenotype and Genotype of a Family With Occult Macular Dystrophy CLINICAL SCIENCES Characterizing the Phenotype and Genotype of a Family With Occult Macular Dystrophy Connie J. Chen, MD; Hendrik P. N. Scholl, MD, MA; David G. Birch, PhD; Takeshi Iwata, PhD; Neil R. Miller, MD; Morton F. Goldberg, MD Objective: To characterize the phenotype of a white pa- outer segment junction on SD-OCT scans. In addition, tient with occult macular dystrophy (OMD) and her clini- 1 clinically unaffected family member also demon- cally unaffected family members and to determine whether strated loss of the foveal photoreceptor outer segments similar mutations were present in the RP1L1 gene in this and, therefore, decreased bowing of the inner segment/ family. Occult macular dystrophy is a rare macular dys- outer segment junction on SD-OCT scans. The fundus trophy with central cone dysfunction hidden behind a autofluorescence images of the eyes of the proband and normal fundus appearance that has been attributed to a her family members were normal. Although mutations mutation in the retinitis pigmentosa 1–like 1 (RP1L1) gene in the RP1L1 gene have been identified in sporadic and in 4 Japanese families. autosomal dominant OMD pedigrees, no mutations in the RP1L1 gene were found in any of the participants. Methods: In this http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JAMA Ophthalmology American Medical Association

Characterizing the Phenotype and Genotype of a Family With Occult Macular Dystrophy

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References (17)

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.2012.2683
pmid
23229695
Publisher site
See Article on Publisher Site

Abstract

CLINICAL SCIENCES Characterizing the Phenotype and Genotype of a Family With Occult Macular Dystrophy Connie J. Chen, MD; Hendrik P. N. Scholl, MD, MA; David G. Birch, PhD; Takeshi Iwata, PhD; Neil R. Miller, MD; Morton F. Goldberg, MD Objective: To characterize the phenotype of a white pa- outer segment junction on SD-OCT scans. In addition, tient with occult macular dystrophy (OMD) and her clini- 1 clinically unaffected family member also demon- cally unaffected family members and to determine whether strated loss of the foveal photoreceptor outer segments similar mutations were present in the RP1L1 gene in this and, therefore, decreased bowing of the inner segment/ family. Occult macular dystrophy is a rare macular dys- outer segment junction on SD-OCT scans. The fundus trophy with central cone dysfunction hidden behind a autofluorescence images of the eyes of the proband and normal fundus appearance that has been attributed to a her family members were normal. Although mutations mutation in the retinitis pigmentosa 1–like 1 (RP1L1) gene in the RP1L1 gene have been identified in sporadic and in 4 Japanese families. autosomal dominant OMD pedigrees, no mutations in the RP1L1 gene were found in any of the participants. Methods: In this

Journal

JAMA OphthalmologyAmerican Medical Association

Published: Dec 1, 2012

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