The value of genetic testing in pediatric and adult ophthalmology.

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Tác giả: Ghazaleh Farmand, Simone Kellner, Ulrich Kellner, Silke Weinitz

Ngôn ngữ: eng

Ký hiệu phân loại: 972.8202 *Central America

Thông tin xuất bản: Germany : Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 197436

Inherited retinal dystrophies and optic neuropathies (IRD) are the most frequent cause for vision loss in the working age. The huge variability of phenotypes and initial clinical presentation frequently delay the ophthalmologic diagnosis. The most frequent phenotypes are retinitis pigmentosa, macular dystrophies, cone-rod dystrophies and syndromes associated with IRDs. Causative gene variants have been identified in more than 300 genes, with a frequency variation between different ethnicities. In this series of 1 914 patients seen in Germany between 1995 and 2024, in 47.4 % of families the genetic background could be solved. Even with a common genotype, the phenotype can be variable. Genetic diagnostic testing is important for the correct diagnosis, for patient selection for current or future therapies, but also from the patient perspective.
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