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Originally published In Press as doi:10.1167/iovs.09-3418 on March 25, 2009
 (Investigative Ophthalmology and Visual Science. 2009;50:4342-4350.)
© 2009 by The Association for Research in Vision and Ophthalmology, Inc.
doi:10.1167/iovs.09-3418
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Correlation of Genetic and Clinical Findings in Spanish Patients with X-linked Juvenile Retinoschisis

Rosa Riveiro-Alvarez,1,2 Maria-Jose Trujillo-Tiebas,1,2 Ascension Gimenez-Pardo,1,2 Maria Garcia-Hoyos,1,2 Miguel-Angel Lopez-Martinez,1,2 Jana Aguirre-Lamban,1,2 Blanca Garcia-Sandoval,3 Silvia Vazquez-Fernandez del Pozo,4 Diego Cantalapiedra,1,2 Almudena Avila-Fernandez,1,2 Montserrat Baiget,5,6 Carmen Ramos,1,2 and Carmen Ayuso1,2

1From the Departments of Genetics, 3Ophthalmology, and 4Epidemiology, Fundacion Jimenez Diaz, Madrid, Spain; 2Centro de Investigacion Biomedica en Red (CIBER) de Enfermedades Raras, Instituto de Salud Carlos III (ISCIII), Madrid, Spain; the 5Genetics Department, Hospital Sant Pau, Barcelona, Spain; and 6CIBER de Enfermedades Raras, ISCIII, Barcelona, Spain.

PURPOSE. X-linked juvenile retinoschisis (XLRS) is one of the most common causes of juvenile macular degeneration in males, characterized by microcystic changes, splitting within the inner retinal layer (schisis), and the presence of vitreous veils. This study was conducted to describe and further correlate specific genetic variation in Spanish patients with XLRS with clinical characteristics and additional ophthalmic complications.

METHODS. The study was performed in 34 Spanish families with XLRS, comprising 51 affected males. Thorough clinical ophthalmic and electrophysiological examinations were performed. The coding regions of the RS1 gene were amplified by polymerase chain reaction and directly sequenced. Haplotype analyses were also performed.

RESULTS. Twenty different mutations were identified. Ten of the 20 were novel and 3 were de novo mutational events. The most common mutation (p.Gln154Arg; 6/20) presented a common haplotype. RS1 variants did not correlate with ophthalmic findings and were not associated with additional ophthalmic complications.

CONCLUSIONS. The prevalent p.Gln154Arg mutation is first reported in this work and presents a common origin in Spanish patients with XLRS. In addition, de novo mutations mainly occur in CG dinucleotides. Despite the large mutational spectrum and variable phenotypes, no genotype–phenotype correlations were found. Identifying the causative mutation is helpful in confirming diagnosis and counseling, but cannot provide a prognosis.






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