[Genetic and molecular characterization of 148 patients with autosomal dominant retinitis pigmentosa (ADRP)].

Authors :: Millá E
Maseras M
Martínez-Gimeno M
Gamundi MJ
Assaf H
Esmerado C
Carballo M
Source :: Archivos de la Sociedad Espanola de Oftalmologia [Arch Soc Esp Oftalmol] 2002 Sep; Vol. 77 (9), pp. 481-4.
Publication Year :: 2002
Abstract: Objective: Genetic characterization of a series of patients with autosomal dominant retinitis pigmentosa (ADRP).<br />Methods: All patients underwent complete ophthalmological examination including computerized perimetry, electroretinography and occasionally fluorescein angiography. Blood samples were drawn for genetic analysis of candidate genes namely rhodopsin (RHO), peripherin-RDS, ROM-1, CRX, RP1 and NRL.<br />Results: 148 ADRP index cases were examined at our hospital from June 1991 to September 2001. Genetic analysis detected the following mutations: 29 different families (19.5%) carried a RHO mutation among which the Pro-347-Leu was the most frequent one, five different RP-1 mutations (3.3%), 2 RDS mutations and one NRL mutation, which is the second reported in the world literature.<br />Conclusions: RHO followed by RP1 are the most frequent ADRP-causing genes in our series as in other published ones, and RDS causes mainly macular dystrophies. Molecular characterization was possible in 37 families (25%) which is of great interest for visual prognosis and genetic counselling.

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