Keilhauer, Claudia N. and Meigen, Thomas and Stoehr, Heidi and Weber, Bernhard H. F. (2006) Late-onset central areolar choroidal dystrophy caused by a heterozygous frame-shift mutation affecting codon 307 of the peripherin/RDS gene. OPHTHALMIC GENETICS, 27 (4). pp. 139-144. ISSN 1381-6810,
Full text not available from this repository. (Request a copy)Abstract
Mutations in the peripherin/RDS gene have been identified in families with various retinopathies including those affecting primarily the macula and those restricted to the retinal periphery. Here, we describe the clinical findings of two sisters with late-onset central areolar choroidal dystrophy (CACD). The two siblings underwent genetic testing and were found to be carriers of a heterozygous frame-shift mutation 920delT affecting codon 307 of the peripherin/RDS gene and resulting in a truncated, likely functionless, protein with an altered C-terminus (Leu307fsX83). The identical mutation has previously been reported to cause slowly progressive autosomal dominant retinitis pigmentosa. In our two patients, the Leu307fsX83 mutation accounts for an unusually mild form of retinal degeneration.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | DOMINANT RETINITIS-PIGMENTOSA; DEGENERATION SLOW GENE; MACULAR DYSTROPHY; RDS GENE; PHOTORECEPTOR PERIPHERIN/RDS; ARG195LEU MUTATION; NEOVASCULARIZATION; MEMBRANES; DELETION; MODEL; central areolar choroidal dystrophy (CACD); peripherin; RDS gene; codon 307; frame-shift mutation; age-related macular degeneration (AMD) |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 18 Jan 2021 06:47 |
| Last Modified: | 18 Jan 2021 06:47 |
| URI: | https://pred.uni-regensburg.de/id/eprint/33718 |
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