Article
Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort.
Investigative ophthalmology & visual science - 1 Jun 2018
Zobor Ditta, Zobor Gergely, Hipp Stephanie, Baumann Britta, Weisschuh Nicole, Biskup Saskia, Sliesoraityte Ieva, Zrenner Eberhart, Kohl Susanne
Abstract excerpt
Purpose: Mutations in the retinitis pigmentosa-1-like-1 (RP1L1) gene are the major cause of autosomal dominant occult macular dystrophy (OCMD), while recessive mutations have been linked to autosomal recessive retinitis pigmentosa (arRP). We present the clinical phenotype of a large German OCMD cohort, as well as four RP patients. Methods: A total of 42 OCMD patients (27 families) and 4 arRP patients (3 families)...
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