Joaquín Castro-Navarro

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PURPOSE To identify the genetic basis of a large consanguineous Spanish pedigree affected with autosomal recessive retinitis pigmentosa (arRP) with premature macular atrophy and myopia. METHODS After a high-throughput cosegregation gene chip was used to exclude all known RP and Leber congenital amaurosis (LCA) candidates, genome-wide screening and linkage(More)
PURPOSE A large family with 11 males and 2 females with X-linked retinitis pigmentosa (XLRP) was analyzed in search of pathologic mutations. METHODS Of the two major XLRP genes, RPGR was analyzed by SNP cosegregation and RP2 was directly screened for mutations. The pathogenicity of a new variant was assessed in silico, in vivo, and in vitro. RESULTS The(More)
UNLABELLED INTRODUCTION Laser-assisted in situ keratomileusis surgery may induce postoperative changes in the vitreomacular interface due to the mechanical stretch of the vitreous produced by the suction ring and the shock waves generated by the excimer laser and, subsequently, may provoke macular hole formation. CASE PRESENTATION A 53-year-old Spanish(More)
INTRODUCTION Several macular complications related to abnormalities of the vitreoretinal interface have been classically attributed to retinitis pigmentosa of which cystoid macular edema is the most common. Other less frequent complications are as follows: epiretinal membranes, vitreomacular traction syndrome and macular holes. CASE PRESENTATION A(More)
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