Phenotypic expansion of autosomal dominant retinitis pigmentosa associated with the D477G mutation in RPE65 .

Autor:	Jauregui R; Edward S. Harkness Eye Institute, Columbia University Medical Center, New York, New York 10032, USA.; Jonas Children's Vision Care and Bernard and Shirlee Brown Glaucoma Laboratory, New York, New York 10032, USA.; Weill Cornell Medical College, New York, New York 10065, USA., Cho A; Edward S. Harkness Eye Institute, Columbia University Medical Center, New York, New York 10032, USA.; Jonas Children's Vision Care and Bernard and Shirlee Brown Glaucoma Laboratory, New York, New York 10032, USA.; Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA., Oh JK; Edward S. Harkness Eye Institute, Columbia University Medical Center, New York, New York 10032, USA.; Jonas Children's Vision Care and Bernard and Shirlee Brown Glaucoma Laboratory, New York, New York 10032, USA.; State University of New York at Downstate Medical Center, Brooklyn, New York 11203, USA., Tanaka AJ; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, New York 10032, USA., Sparrow JR; Edward S. Harkness Eye Institute, Columbia University Medical Center, New York, New York 10032, USA.; Jonas Children's Vision Care and Bernard and Shirlee Brown Glaucoma Laboratory, New York, New York 10032, USA.; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, New York 10032, USA., Tsang SH; Edward S. Harkness Eye Institute, Columbia University Medical Center, New York, New York 10032, USA.; Jonas Children's Vision Care and Bernard and Shirlee Brown Glaucoma Laboratory, New York, New York 10032, USA.; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, New York 10032, USA.
Jazyk:	angličtina
Zdroj:	Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2020 Feb 03; Vol. 6 (1). Date of Electronic Publication: 2020 Feb 03 (Print Publication: 2020).
DOI:	10.1101/mcs.a004952
Abstrakt:	Mutations in the gene RPE65 (OMIM: 180069) are recessively inherited and known to cause Leber congenital amaurosis. Recently, the mutation D477G in RPE65 has been identified as a cause of autosomal dominant retinitis pigmentosa (RP). Variable expressivity of this disease has been reported, as carrier individuals can present with mild, nonpenetrant, or, most commonly, a severe chorioretinal phenotype that resembles choroideremia. We report the case of a 57-yr-old male who presented to our clinic with nyctalopia and decreasing visual acuity for 1 yr. Dilated fundus examination revealed retinal atrophy and peripheral mottling of the retinal pigment epithelium (RPE). SW-AF revealed patchy hypoautofluorescence throughout the posterior pole with separate lacunae-like areas in the macula of severe RPE atrophy along with foveal sparing. Full-field electroretinogram suggested a rod-cone dystrophy. Whole-exome sequencing revealed the heterozygous mutation c.1430A > G (p.D477G) in the RPE65 gene. This phenotype of peripheral RPE mottling and severe macular lacunae-like atrophy has not been previously reported with RPE65 autosomal dominant RP, supporting the variable expressivity of the disease and expanding the known phenotypic presentations. (© 2020 Jauregui et al.; Published by Cold Spring Harbor Laboratory Press.)
Databáze:	MEDLINE
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