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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
JAMA Ophthalmology – American Medical Association
Published: Dec 1, 2012
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