Article
A Novel Pathogenic Variant in CRB1 as the Cause of Non-Syndromic Retinitis Pigmentosa in a Geographical Isolate in Northern Italy.
American journal of medical genetics. Part A - 1 Nov 2025
Guala Andrea, Sirchia Fabio, Scotti Claudia, Rossi Elena, Falcioni Roberta, Ragozza Silvano, Casella Antonella, Valente Enza Maria, Danesino Cesare
Abstract excerpt
Non-syndromic Retinitis Pigmentosa (NsRP) was well known as one of the causes of visual impairment already in the 19th century. Giuseppe Albertotti, Professor of Ophthalmology at the University of Modena (Italy) in 1893, described a high prevalence of NsRP in a geographic isolate, the small village of Colloro, in northwestern Italy. In two living descendants, similarly affected with NsRP, we identified pathogenic...
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