A Thr17Met mutation is associated with an unusual retinochoroidopathy in an autosomal dominant pedigree.

PURPOSE: To report the results of molecular genetic analysis for a proband with unusual regionalized retinochoroidopathy in an autosomal dominant pedigree originally reported as a previously undescribed condition. METHODS: Genomic DNA was obtained from the proband's leukocytes and was analyzed by Carver Laboratories at the University of Iowa (Iowa City) specifically to look for variants in genes associated with autosomal dominant retinitis pigmentosa. RESULTS: A probable high-penetrance disease-causing sequence variation in the rhodopsin gene, a heterozygous cytosine-to-thymine ACG>ATG nucleotide substitution resulting in a threonine to methionine (Thr17Met) amino acid change, was detected. This variant is associated with autosomal dominant retinitis pigmentosa. CONCLUSION: Findings of molecular genetics analysis of this unusual regionalized retinochoroidopathy support the diagnosis of a mild, delimited form of autosomal dominant retinitis pigmentosa.

Vitelliform macular dystrophy.

PURPOSE: To investigate and integrate the photographic, angiographic, and tomographic findings from a group of patients with various stages of vitelliform macular dystrophy type 2 (VMD2; also known as Best's disease) and use this information to propose mechanisms of disease pathogenesis. DESIGN: Retrospective observational case series. PARTICIPANTS: Nine consecutive patients seen in a private practice referral setting by the authors. METHODS: Patients with VMD2 were imaged with conventional fundus and autofluorescence photography, fluorescein angiography, fundus photography, and optical coherence tomography (OCT). MAIN OUTCOME MEASURES: The integrated ocular imaging findings. RESULTS: Early stage lesions were smaller and had accumulation of yellowish material in the central macula. This material was highly autofluorescent and appeared to be located on the outer retinal surface by OCT. Later stages were characterized by larger lesions with central clearing of the yellowish material and deposition of autofluorescent subretinal material at the outer borders of the lesion. Both early and late lesions had a subretinal fluid component with no reflectivity as detected by OCT. Fluorescein angiography showed transmission defects with a suggestion of late leakage, much like that seen in chronic central serous chorioretinopathy (CSC). CONCLUSIONS: Similar to that seen in CSC, patients with VMD2 have an accumulation of material on the outer retina, which may represent shed photoreceptor outer segments in association with subretinal fluid.

Autosomal dominant pericentral retinochoroidal atrophy.

PURPOSE: To describe a family pedigree with a newly described hereditary retinal disease. METHODS: Five family members were examined, and a fifth deceased family member was identified through review of old medical records. RESULTS: Five individuals had annular or arcuate pericentral areas of retinal (younger members) or choroidal (older members) atrophy and spared maculae with good visual acuity and normal retinal periphery. Two of the four examined affected family members were symptomatic only for field loss; the other two were asymptomatic. No nyctalopia was reported by any affected individual. Fluorescein angiography revealed hyperfluorescence in the affected areas in the family members with retinal atrophy and hypofluorescence in affected areas in family members with choroidal atrophy. Visual field scotomas were dense and corresponded to the areas of retinal and/or choroidal atrophy. Full-field electroretinograms were normal for two family members and were reduced for one family member with the most advanced retinal and choroidal changes. The scotopic response was only mildly reduced in the fourth examined family member. CONCLUSIONS: We believe that we have identified a pedigree with a previously undescribed autosomal dominant hereditary retinal disease characterized by arcuate retinal and retinochoroidal atrophy and normal visual acuity.

Adult-onset foveomacular dystrophy associated with full-thickness macular hole: report of 5 cases / Distrofia viteliforme foveomacular de início na vida adulta associada a buraco macular: relato de 5 casos

Objetivo: Relatar uma série de 5 casos de distrofia viteliforme foveomacular de início na vida adulta, uma das distrofias padrão da mácula, em associação com o desenvolvimento de buraco macular. Local: Manhattan Eye, Ear & Throat Hospital, New York, NY, USA. Métodos: Relato de uma série de casos. Resultados: Cinco casos de distrofia viteliforme foveomacular de início na vida adulta, uma das distrofias padrão da mácula, desenvolveram buraco macular. Todos os 5 casos, ou 7 olhos, evoluíram com perda de visão, e em um olho foi realizada cirurgia para buraco macular e obtido sucesso anatômico (fechamento do buraco). Conclusão: Distrofia viteliforme foveomacular de início na vida adulta pode associar?se ao desenvolvimento de buraco macular e esta associação pode resultar em perda de visão.

A randomized, placebo-controlled trial of paroxetine in nursing home residents with non-major depression.

Depression is common across a broad spectrum of severity among nursing home residents. Previous research has demonstrated the effectiveness of antidepressants in nursing home residents with major depression, but it is not known whether antidepressants are helpful in residents with less severe forms of depression. We conducted a randomized double-blind placebo-controlled 8-week trial comparing paroxetine and placebo in very old nursing home residents with non-major depression. The main outcome measure was the primary nurse's Clinical Impression of Change (CGI-C). Additional outcome measures were improvement on the interview-derived Hamilton Depression Rating Scale (HDRS) and Cornell Scale for Depression (CS) scores. Twenty-four subjects with a mean age of 87.9 were enrolled and twenty subjects completed the trial. Placebo response was high, and when all subjects were considered, there were no differences in improvement between the paroxetine and placebo groups. Two subjects that received paroxetine developed delirium, and subjects that received paroxetine were more likely to experience a decrease in Mini Mental State Exam scores (P =.03). There were no differences in serum anticholinergic activity between groups. In a subgroup analysis of 15 subjects with higher baseline HDRS and CS scores, there was a trend toward greater improvement in the paroxetine group in an outcome measure that combined the CGI-C and interview-based measures (P =.06). Paroxetine is not clearly superior to placebo in this small study of very old nursing home residents with non-major depression, and there is a risk of adverse cognitive effects. Because of the high placebo response and the trend towards improvement in the more severely ill patients, it is possible that a larger study would have demonstrated a significant therapeutic effect for paroxetine as compared with placebo. The study also illustrates the discordance between patient and caregiver ratings, and the difficulties in studying very elderly patients with mood disorders.