![]() ![]() 7 Their protein products function in various biological pathways, such as eye development, the retinal cells' structure, phototransduction, regeneration of the retinoid substance, retinal enzymatic function, and photoreceptor survival. 6Ī total of 271 genes are known to cause IRDs. 1 Collectively, these diseases are among the leading causes for blindness worldwide, 4, 5 with an estimated prevalence of about 1/2.000–1/3.000. 3 The photoreceptors are most commonly affected. 1, 2 IRD affects the retina, a specialized, light‐sensitive nervous tissue, and the innermost layer of the eye. Inherited retinal degenerations (IRDs) are a large group of diseases, which are both clinically and genetically heterogeneous. One novel pathogenic variant defined a genetically homogenous XLRS patient group. ![]() Four variants were reclassified as likely pathogenic. Pathologic variants and genes for IRDs in Iceland did not resemble those described in ancestral North‐Western European nations. All tested patients with X‐linked retinoschisis (XLRS) had the same possibly unique RS1 pathogenic variant, c.441G > A (p.Trp147X). The c.1073 + 5G > A variant in the PRPF31 gene was homozygous in two RP patients. ![]() Thirteen disease genes were found in patients with retinitis pigmentosa, with the RLBP1 gene most common ( n = 4). ![]() Overall, 140 IRD patients were identified (point prevalence of 1/2.600), of which 70 patients had a genetic evaluation where two‐thirds had an identified genetic cause. Variants were reevaluated according to ACMG/AMP guidelines. Information on patients' disease, syndrome, and genetic testing was collected in a clinical registry. The study sample comprised patients with IRD in Iceland ascertained through national centralized genetic and ophthalmological services at Landspitali, a national social support institute, and the Icelandic patient association. Benefits include delineating novel pathogenic genetic variants and defining genetically homogenous patients as potential investigative molecular therapy candidates. The study objective was to delineate the genetics of inherited retinal degenerations (IRDs) in Iceland, a small nation of 364.000 and a genetic isolate. ![]()
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