Novel codon 15 RHO gene mutation associated with retinitis pigmentosa.

Objective: To describe, in a multimodal way, a new RHO gene mutation with lysine-for-asparagine substitution in autosomal dominant retinitis pigmentosa.

Methods: Case report. Retrospective data analysis.

Vision-related quality of life in children with retinopathy of prematurity.

Purpose: To evaluate the effect of retinopathy of prematurity (ROP) on vision-related quality of life in children.

Methods: The Children's Visual Function Questionnaire (CVFQ), an instrument that evaluates vision-related quality of life in children, was used. It is divided into 6 subscales: General Health, Vision Health, Competence, Personality, Family Impact, and Treatment.

Genotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil.

Background: Primary congenital glaucoma (PCG), occurs due to the developmental defects in the trabecular meshwork and anterior chamber angle in children. PCG exhibits genetic heterogeneity and the CYP1B1 gene has been widely implicated worldwide. Despite the diverse mutation spectra, the clinical implications of these mutations are yet unclear.

Lack of association between the 5-HTTLPR and positive screening for mental disorders among children exposed to urban violence and maltreatment.

Objective: To ascertain whether genetic variations in the serotonin transporter gene (5-HTTLPR 44-bp insertion/deletion polymorphism) influence an increase in depressive and anxiety symptoms in children and adolescents exposed to high levels of violence.

Methods: Saliva samples were collected from a group of children who were working on the streets and from their siblings who did not work on the streets. DNA was extracted from the saliva samples and analyzed for 5-HTTLPR polymorphism genotypes.

Spectral-domain optical coherence tomography for macular edema.

Optical coherence tomography (OCT) is a rapid noncontact method that allows in vivo imaging of the retina and it has become an important component in clinical practice. OCT is a useful ancillary tool for assessing retinal diseases because of its ability to provide cross-sectional retinal images and quantitatively analyze retinal morphology. The introduction of spectral-domain OCT provided major improvements in image acquisition speed and image resolution.

Outer retina analysis by optical coherence tomography in cone-rod dystrophy patients.

Purpose: To analyze the outer retinal layers using spectral domain optical coherence tomography (SD-OCT) in patients with cone-rod dystrophy.

Methods: The diagnosis of cone-rod dystrophy was determined by primary cone involvement or concomitant loss of both cones and rods. Electroretinography showed implicit time shift at 30-Hz flicker response and prevalent decrease of photopic over scotopic responses.

Association of age and macular pigment optical density using dual-wavelength autofluorescence imaging.

Background: Several lines of evidence suggest that macular pigment may play a protective role against age-related macular degeneration, but the influence of age on macular pigment density levels remains unclear. This study was designed to investigate the relationship between age and the normal distribution of macular pigment optical density (MPOD) values surrounding the fovea.

Methods: Consecutive healthy subjects with no evidence of ocular disease were enrolled in this study.

[Unilateral retinitis pigmentosa secondary to eye injury: case report].

Retinitis pigmentosa is a group of diseases caused by genetic changes that lead to progressive degeneration of photoreceptors, rods mainly. In general, it has bilateral presentation. This study is a case report of a patient with unilateral involvement of the retina, similar to the characteristics of retinitis pigmentosa, and an old ocular trauma history.

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.

Leber congenital amaurosis (LCA) is an autosomal recessive retinal dystrophy that manifests with genetic heterogeneity. We sequenced the exome of an individual with LCA and identified nonsense (c.507G>A, p.

Hyperautofluorescent ring in autoimmune retinopathy.

Purpose: To report the presence of a hyperautofluorescent ring and corresponding spectral-domain optical coherence tomography (SD-OCT) features seen in patients with autoimmune retinopathy.

Methods: All eyes were evaluated by funduscopic examination, full-field electroretinography, fundus autofluorescence, and SD-OCT. Further confirmation of the diagnosis was obtained with immunoblot and immunohistochemistry testing of the patient's serum.

[Comparison of anti-angiogenic effect in vitro between ranibizumab and bevacizumab].

Purpose: To evaluate the comparative in-vitro antiangiogenic effect of Bevacizumab and Ranibizumab.

Methods: Endothelial venous umbilical cells culture (ECV304) cultivated in F12 media with addition of 10% Fetal Bovine Serum, were plaqued and treated with clinically relevant concentrations of Bevacizumab and Ranibizumab just after the scratch done in the middle of the culture (scratch methodology). Measurements of the linear size of the area free of cell proliferation were done 24, 48 and 72 hours after the scratch day point.

Retinal function in patients treated with tamoxifen.

Tamoxifen, an effective treatment of breast cancer, has been shown to cause ocular toxic effects. The purpose of this study was to determine retinal toxicity by full-field and focal electroretinograms (ERGs) in patients treated with tamoxifen. Fullfield and focal ERGs were obtained from three groups: Tamoxifen-14 females (47-72 years, mean 58.

[Gene therapy for inherited retinal dystrophies].

The inherited retinal dystrophies comprise a large number of disorders characterized by a slow and progressive retinal degeneration. They are the result of mutations in genes that express in either the photoreceptor cells or the retinal pigment epithelium. The mode of inheritance can be autosomal dominant, autosomal recessive, X linked recessive, digenic or mitochondrial DNA inherited.

[Ocular coherence tomography in age-related macular degeneration patients treated with photodynamic therapy with verteporforin].

Purpose: To identify the optical coherence tomography (OCT) findings in patients with age-related macular degeneration (ARMD) treated with photodynamic therapy (PDT).

Study Design: Open, non-randomized, interventional case series.

Methods: ARMD patients were submitted to a complete ophthalmological examination, fluorescein angiography, and OCT at baseline (V0), 3, 6, 9 and 12 months (V3, V6, V9 and V12, respectively).

[Evaluation of fundus autofluorescence in hereditary retinal diseases using Heidelberg Retina Angiograph2].

Purpose: To define characteristics of the fundus autofluorescence examination, verifying usefulness in the diagnosis and care of hereditary retinal diseases.

Methods: 28 patients, adults, divided equally into four groups with diagnoses of Stargardt macular dystrophy, cone dystrophy, retinitis pigmentosa and healthy volunteers for the establishment of the normality pattern. An average of nine images with the filter for fluorescein angiography was obtained for the formation of the image autofluorescence using Heidelberg Retina Angiograph2.

Familial Behr syndrome-like phenotype with autosomal dominant inheritance.

Behr syndrome is an autosomal recessive disease characterized by early-onset ataxia, optic atrophy and other signs such as pyramidal tract dysfunction. Autosomal dominant inheritance has also been described. In this case report we present a family pedigree of patients with an inherited autosomal dominant Behr syndrome-like phenotype emphasizing their clinical and neuroimaging features.

[Optical coherence tomography aspects of Stargardt's disease: case report].

The term fundus flavimaculatus (Stargardt disease) describes a group of inherited macular dystrophies characterized by multiple yellow to yellow-white flecks at the level of the retinal pigment epithelium. The authors describe findings in the patient with Stargardt's disease using optical coherence tomography (OCT), and suggest the examination to be valid as subsidiary method in the study of the characteristics of the retina in Stargardt's disease patients, but studies involving a series of patients should be able to show the most frequent findings in these cases.

Posterior polar cataract: genetic analysis of a large family.

Congenital cataracts are clinically and genetically heterogeneous. Loci for autosomal dominant posterior polar cataracts have been mapped to chromosomes 1p36, 11q22-q22.3, 16q22, and 20p12-q12.

Treatment of cystoid macular edema related to retinitis pigmentosa with intravitreal triamcinolone acetonide.

A case of cystoid macular edema related to retinitis pigmentosa treated with intravitreal injection of triamcinolone acetonide is described. A 30-year-old white man with retinitis pigmentosa and progressive visual loss presented with a best-corrected visual acuity of 20/40 in the right eye and 20/80 in the left eye. Examination revealed cystoid macular edema in both eyes.