PRPH2 mutation c.582-1G>A causing adult-onset macular dystrophy with a benign concentric annular macular dystrophy phenotype in a family.

The peripherin gene (PRPH2) mutation is associated with photoreceptor cell dysfunction as well as in several inherited retinal dystrophies. The PRPH2 mutation c.582-1G>A is a rare variant reported in retinitis pigmentosa and pattern dystrophy.

PRPH2 mutation c.582-1G>A causing adult-onset macular dystrophy with a benign concentric annular macular dystrophy phenotype in a family.

The peripherin gene (PRPH2) mutation is associated with photoreceptor cell dysfunction as well as in several inherited retinal dystrophies. The PRPH2 mutation c.582-1G>A is a rare variant reported in retinitis pigmentosa and pattern dystrophy.

Unilateral recurrent macular hole in a patient with retinitis pigmentosa: a case report.

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 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.

Vitreoretinal surgery for bilateral macular holes after laser-assisted in situ keratomileusis for the correction of myopia: a case report.

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 woman who had undergone a laser-assisted in situ keratomileusis for the correction of myopia in her right and left eye (10 years ago) was referred to our department with a complaint of decreased visual acuity in both eyes. A fundoscopy and optical coherence tomography examination revealed a bilateral full-thickness macular hole.

Long-term evolution of Valsalva retinopathy: a case series.

Introduction: Valsalva retinopathy may occur as a sudden, dramatic loss of central vision due to the premacular location of the haemorrhage. It has been described in different clinical settings, and there are several options for its treatment.

Case Presentations: We present the cases of six patients with sudden visual acuity loss caused by Valsalva retinopathy, treated in our hospital in the last ten years.

Long-term evolution of idiopathic lamellar macular holes and macular pseudoholes.

Objective: To analyze the natural evolution of idiopathic lamellar macular holes (LMH) and macular pseudoholes (MPH) in the long term, based on optical coherence tomography (OCT) configuration and on best corrected visual acuity (BCVA) evolution.

Design: A prospective, longitudinal study.

Participants: We prospectively analyzed 108 eyes (67 left eyes and 41 right eyes) of 99 patients (55 female and 44 male) whose eyes had been diagnosed as having an MPH or an LMH on OCT examination.

Spontaneous closure of stage IV idiopathic full-thickness macular hole and late reopening as a lamellar macular hole: a case report.

Introduction: Spontaneous closure of traumatic macular holes is described as a common event in the peer-reviewed literature. However, the spontaneous closure of stage III and IV full-thickness idiopathic macular holes has been reported in less than 15 cases in the literature, this being an extremely rare event, with their reopening being even more infrequent. We report a case of a spontaneous closure of stage IV idiopathic full-thickness macular hole and late reopening as a lamellar macular hole.

Autosomal recessive retinitis pigmentosa with early macular affectation caused by premature truncation in PROM1.

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 analysis were performed. Direct mutational screening identified the pathogenic mutation, and primers were designed to obtain the RT-PCR products for isoform characterization.

Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects.

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).

Identification of an intronic single-point mutation in RP2 as the cause of semidominant X-linked retinitis pigmentosa.

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.