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Congenital stationary night blindness (CSNB) is a heterogeneous retinal disorder characterized by visual impairment under low light conditions. This disorder is due to a signal transmission defect from rod photoreceptors to adjacent bipolar cells in the retina. Two forms can be distinguished clinically, complete CSNB (cCSNB) or incomplete CSNB; the two(More)
PURPOSE To describe a distinctive foveal cavitation as seen by spectral-domain optical coherence tomography in certain cone dysfunction syndromes. METHODS Observational case series. Patients were evaluated by dilated fundus examination, fundus photography, fundus autofluorescence, full-field electroretinogram, multifocal electroretinogram, spectral-domain(More)
Photopigment optical density (OD) of middle-(M) and long-(L) wavelength-sensitive cones was determined to evaluate the hypothesis that reductions in the amount of photopigment are responsible for age-dependent sensitivity losses of the human cone pathways. Flicker thresholds were measured at the peak and tail of the photoreceptor's absorption spectrum as a(More)
PURPOSE To perform a detailed morphologic and functional evaluation of Best macular dystrophy (BMD) associated with mutations in the VMD2 gene. DESIGN Retrospective study. PARTICIPANTS The records of 16 patients with BMD and heterozygous VMD2 mutations (group 1) and 5 patients with Best-like lesions with no detectable disease-associated alterations in(More)
PURPOSE Detailed morphologic and functional evaluation of adult vitelliform macular dystrophy (AVMD). METHODS The records of 61 consecutive AVMD patients (inclusion criterion: vitelliform lesion smaller than one disk diameter at least in one eye) were evaluated retrospectively regarding visual acuity, color vision, perimetry, retinal pigment epithelium(More)
BACKGROUND Adult vitelliform macular dystrophy (AVMD) was first described in 1974 (Gass) but is still often misdiagnosed. Large studies using modern morphological and functional diagnostic methods do not exist. PATIENTS AND METHODS The records of 67 consecutive AVMD patients (1994-2003) were reviewed regarding color vision, perimetry, RPE(More)
Night vision requires signaling from rod photoreceptors to adjacent bipolar cells in the retina. Mutations in the genes NYX and GRM6, expressed in ON bipolar cells, lead to a disruption of the ON bipolar cell response. This dysfunction is present in patients with complete X-linked and autosomal-recessive congenital stationary night blindness (CSNB) and can(More)
PURPOSE To evaluate and compare the value of fundus autofluorescence (FAF) imaging and multifocal electroretinography (mfERG) in early detection of retinal alterations in patients using chloroquine/hydroxychloroquine (CQ/HCQ). METHODS FAF imaging was performed in a consecutive series of 25 patients with long-term CQ or HCQ treatment (duration, >1 year),(More)
The hypothesis that dichromatic behavior on a clinical anomaloscope can be explained by the complement and arrangement of the long- (L) and middle-wavelength (M) pigment genes was tested. It was predicted that dichromacy is associated with an X-chromosome pigment gene array capable of producing only a single functional pigment type. The simplest case of(More)
BACKGROUND Tamoxifen is used in the treatment of selected patients with breast carcinoma. Rarely, it has been shown to cause ocular toxic effects including crystalline retinopathy. METHODS Retrospective analysis of clinical and functional (visual acuity, visual field, colour vision) data of a case series of eight female patients under tamoxifen therapy(More)