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Ulrich Kellner, Heidi Stoehr, Simone Kellner, Silke Weinitz, Ghazaleh Farmand, Birgit Lindau, Bernhard HF Weber; Molecular Genetic Screening In A Series Of 852 Patients With Inherited Retinal Dystrophies From One German Reference Center. Invest. Ophthalmol. Vis. Sci. 2018;59(9):18.
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To report the molecular genetic findings in a series of 852 patients with inherited retinal dystrophies (IRD) from a single German reference center.
Following ophthalmological diagnosis of inherited diseases based on clinical findings, retinal imaging and/or electrophysiological examinations, patients underwent molecular genetic evaluation based on the clinical diagnosis with direct Sanger sequencing or custom designed gene panel analysis (NGS or resequencing array). The number of genes tested ranged from one to 124
From 852 patients (758 unrelated families) disease-causing mutations (1 mutation in adIRD or xIRD and 2 mutations in arIRD) were identified in 376 subjects (44.1 %; 315 families (41.5 %). In addition, 48 patients with macular dystrophy or cone-rod dystrophy (6,3%) were found to be monoallelic carriers of a disease-causing ABCA4 mutation and further 31 patients were monoallelic carriers of one disease-causing mutation in other recessive genes. Putative clinically relevant mutations in at least two genes were identified in 36 patients (11,7 %), mutations in three or more genes in 9 patients (2,9 %).
Detailed molecular genetic testing reveals a high number of cases solved due to gene mutations in known retinal disease genes. The impact of these mutations on the clinical course of the disease can only be achieved in a large cohort as the one presented in this work. The relevance of mutations in more than one gene is more difficult to establish.
This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.
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