{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:18:55Z","timestamp":1760833135347,"version":"build-2065373602"},"reference-count":21,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1998,5]]},"abstract":"<jats:p>Retinitis pigmentosa (RP) is a degenerative disorder affecting the outer segment of the retina and leading to night blindness and progressive visual field loss. The rhodopsin gene encodes a photolabile pigment located in the rod outer segments constituting around 80-90% of its protein content and is the initiation point for the visual cascade upon absorption of a single photon. Seventy-five unrelated, isolated RP families in the Basque Country, with at least one affected member, were diagnosed at our hospital after ophthalmic examination and electroretinogram analysis. The patients received genetic counselling according to their individual case based on their clinical diagnosis. The modes of inheritance found from pedigree studies were the following: 20% (15\/75) were classified as autosomal dominant retinitis pigmentosa (ADRP), 17.33% (13\/75) were autosomal recessive (ARRP), 2.66% (2\/75) were unclassified (NC), and 60% (45\/75) were sporadic cases (SCRP). From these families, 75 unrelated and affected index cases together with 22 affected relatives and 42 unaffected relatives were screened for mutations in the rhodopsin gene by GC clamped denaturing gradient gel electrophoresis. Our results showed that five ADRP, three ARRP, 15 SCRP, and one NC families had alterations in this gene. Only three of these alterations, that is 4% (3\/75) (95% CL 0-8), appeared to be responsible for the disease. This represents a lower percentage than the 10% previously reported.<\/jats:p>","DOI":"10.1136\/jmg.35.5.387","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"387-390","source":"Crossref","is-referenced-by-count":1,"title":["Molecular study of the rhodopsin gene in retinitis pigmentosa patients in the Basque Country."],"prefix":"10.1136","volume":"35","author":[{"given":"A I","family":"Alvarez","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Arostegui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Martin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Duran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M L","family":"Onaindia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Molina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M I","family":"Tejada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1998,5,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1146\/annurev.ge.26.120192.002155","article-title":"Y Molecular genetics of human visual pigments","volume":"26","author":"Nathans, J.; Merbs, S.L.; Sung, C.H.; Weitz, C.J.; Wang","year":"1992","unstructured":"Nathans J, Merbs SL, Sung CH, Weitz CJ, Wang Y Molecular genetics of human visual pigments. 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Missense rhodopsin mutation in a family with recesive RP. Nat Genet 1994;8: 10-11.","journal-title":"Nat Genet"},{"key":"ref_6","first-page":"283","article-title":"Identification of a novel rhodopsin mutation (Met-44-Thr) in a simplex case of retinitis pigmentosa","volume":"3","author":"Reig, C.; Antich, J.; Gean, E.","year":"1994","unstructured":"Reig C, Antich J, Gean E, et al. Identification of a novel rhodopsin mutation (Met-44-Thr) in a simplex case of retinitis pigmentosa. Hum Genet 1994;3:283-6.","journal-title":"Hum Genet"},{"issue":"2","key":"ref_7","first-page":"391","article-title":"Molecular screening of the rhodopsin gene in 65 retinitis pigmentosa patients from the Basque Country","volume":"29","author":"Alvarez, A.I.; Duran, M.; Molina, M.","year":"1996","unstructured":"Alvarez AI, Duran M, Molina M, et al. Molecular screening of the rhodopsin gene in 65 retinitis pigmentosa patients from the Basque Country. 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Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. N Engl _t Med 1990;323: 1302-7.","journal-title":"N Engl _t Med"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"6481","DOI":"10.1073\/pnas.88.15.6481","article-title":"Rhodopsin mutations in autosomal dominant retinitis pigmentosa","volume":"88","author":"Sung, C.H.; Davenport, C.M.; Hennessey, J.C.","year":"1991","unstructured":"Sung CH, Davenport CM, Hennessey JC, et al. Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Proc Nad Acad Sci USA 1991;88:6481-5.","journal-title":"Proc Nad Acad Sci USA"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1159\/000154401","article-title":"Data on six short-tandem repeat polymorphisms in an autochthonous Basque population","volume":"47","author":"Iriondo, M.; Barbero, M.C.; Izaguirre, N.; Manzano, C.","year":"1997","unstructured":"Iriondo M, Barbero MC, Izaguirre N, Manzano C. 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