A remarkable clinical finding in the affected family is early macular atrophy with concentric spared areas. The authors propose that the hallmark of PROM1 truncating mutations is early and severe progressive degeneration of both rods and cones and highlight this gene as a candidate of choice to prioritize in the molecular genetic study of patients with noncanonical clinical peripheral and macular affectation.

A transversion (T>A) at position -9 in intron 3 of RP2 causes XLRP by altering the splicing pattern and highlights the pathogenicity of intronic variants. The single point RP2 mutation leads to a wide range of phenotypic traits in carrier females, from completely normal to severe retinal degeneration, thus supporting that RP2 is also a candidate for semidominance in XLRP.

No abstract

Fast and efficient high-throughput techniques are essential for the molecular diagnosis of highly heterogeneous hereditary diseases, such as retinitis pigmentosa (RP). We had previously approached RP genetic testing by devising a chip based on co-segregation analysis for the autosomal recessive forms. In this study, we aimed to design a diagnostic tool for all the known genes (40 up to now) responsible for the autosomal dominant and recessive RP and Leber congenital amaurosis (LCA). This new chip analyzes 240 single nucleotide polymorphisms (SNPs) (6 per gene) on a high-throughput genotyping platform (SNPlex, Applied Biosystems), and genetic diagnosis is based on the co-segregation analysis of SNP haplotypes in independent families. In a single genotyping step, the number of RP candidates to be screened for mutations is considerably reduced, and in the most informative families, all the candidates are ruled out at once. In a panel of RP Spanish pedigrees, the disease chip became a crucial tool for selecting those suitable for genome-wide RP gene search, and saved the burdensome direct mutational screening of every known RP gene. In a large adRP family, the chip allowed ruling out of all but the causative gene, and identification of an unreported null mutation (E181X) in PRPF31. Finally, on the basis of the conservation of the SNP haplotype linked to this pathogenic variant, we propose that the E181X mutation spread through a cohort of geographically isolated families by a founder effect.

IntroductionSeveral 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 presentationA 64-year-old woman, with the previous diagnosis of retinitis pigmentosa, was referred to our department with a complaint of central visual loss in her left eye for 12 months. A fundoscopy and optical coherence tomography examination revealed the presence of a macular hole more than 500 microns in diameter. The patient underwent 20-gauge pars plana vitrectomy. Closure of the hole was observed after surgery, but reopening occurred at 2 years postoperatively.ConclusionThe pathogenesis of macular hole formation in patients with retinitis pigmentosa is unclear. Surgical outcomes may not always be favorable, and the possibility of reopening must be taken into account, even after a long time.

No abstract

RESUMENObjetivo: Comparar la efectividad, eficiencia y complicaciones de las tres técnicas quirúrgicas empleadas en el tratamiento del agujero macular en el período 1998-2004 en nuestro centro. Métodos: Estudio retrospectivo, comparativo, intervencionista y no aleatorizado de 131 ojos con agujero macular idiopático en estadío III y IV, operados con tres técnicas. En 25 ojos se realizó vitrectomía simple (grupo 1), en 19 ojos se asoció rexis de la membrana limitante interna (MLI) (grupo 2), y en 87 ojos esta rexis se llevó a cabo previa tinción con verde de indocianina (ICG) (grupo 3). Las concentraciones de ICG empleadas fueron del 5%, 2,5% y 0,5%. Se compararon la recuperación anatómica y funcional y las complicaciones en los distintos grupos. Resultados: El 88,4% (114 ojos) lograron la resolución anatómica, siendo superior en el grupo 3 (90,6%). La recuperación funcional se consiguió en el 63,6%. En ambos casos no existieron diferencias entre grupos. Las complicaciones más importantes fueron: cataratas post-cirugía (51,9%), aumento de PIO (37,2%), desprendimientos de retina (7,8%) y alteraciones del epitelio pigmentario (7%). Esta últi-ma se relacionó con el uso de ICG (p<0,05), sin encontrarse diferencias en las concentraciones empleadas. El tamaño del agujero tuvo una correlación inversa con la agudeza visual (AV) inicial y post-qui-ARTÍCULO ORIGINAL ABSTRACT Purpose: To compare the effectiveness, efficiency and complications of three different surgical techniques employed for the treatment of macular holes between 1998 -2004 in our health care centre. Methods: A retrospective, comparative, and nonrandomized study of 131 eyes with macular holes, stage III and IV, treated with three different surgical techniques was performed. Vitrectomy was performed in 25 eyes (group 1). Vitrectomy was associated with internal limiting membrane peeling in 19 eyes (group 2), and in the remaining 87 eyes, the peeling of the retinal internal limiting membrane was assisted with indocyanine green (ICG) (group 3). The concentrations of ICG used were 5%, 2.5% and 0.5%. We compared the anatomic and functional results, and the complications which occurred. Results: The overall anatomic success rate was 88.4% (114 eyes), and it was higher in group 3 (90.6%). A visual acuity improvement was achieved in 63.6% of eyes; however there were no significant differences between the groups studied. The most important complications included cataracts (51.9%), increase in intra-ocular pressure (37.2%), retinal detachment (7.8%) and retinal pigment epithelial changes (7%). These pigment epithelial changes were associated with the use of ICG-assisted peeling (p<0.05), but there was no correlation between the changes and the concentration of ICG

No abstract