Cone flicker threshold rises as the rods dark adapt, though the cone threshold to continuous light remains constant. The rise is normally about 1 log unit, but in certain patients who complain of night blindness it may be as great as 2.5 log units. In these persons the kinetics of the rod-cone interaction are those of the recovery of rod sensitivity. The rods impose a low-pass filter on the con...

OBJECTIVE Juvenile Neuronal Ceroid-Lipofuscinosis (JNCL, CLN 3, Batten Disease) (OMIM #204200) belongs to the most common group of neurodegenerative disorders of childhood. We report the clinical data and molecular analysis of a large Brazilian family. METHOD Family composed of two consanguineous couples and thirty-two children. Clinical data of ten JNCL patients and molecular analyses on 13 ...

Three patients with a bull's-eye macular lesion and other signs characteristic of cone dystrophy gave an unusual ERG finding. In response to a white flash of moderate intensity the scotopic b-wave amplitude was considerably larger than normal. One patient had elevated rod thresholds and nyctalopia, while the other 2 had normal rod sensitivity associated with the supernormal scotopic b-wave ampl...

A 22-year-old man had X-linked retinoschisis with extensive vascular sheathing in the posterior pole and dendritic opacified retinal vessels in the periphery. Detailed fluorescein angiographic studies were performed. In the far periphery areas of capillary nonperfusion were seen. Sluggish circulation was present in the majority of dendritic opacified vessels in the areas of schisis. Late staini...

Purpose Heterozygous mutations in OTX2 have been associated with a range of ocular and pituitary abnormalities. We report a novel heterozygous deletion in OTX2 underlying early-onset retinal dystrophy with atypical maculopathy. Methods Clinical examination included electroretinography and multimodal retinal imaging. Molecular genetic testing was composed of next-generation sequencing of a pan...

AIM To describe a rare case of Vogt's limbal girdle in a boy with retinitis pigmentosa. METHODS A 13-year-old boy from India presented to us with progressive diminution of vision and nyctalopia for 5 years. On examination, he had the characteristic features of retinitis pigmentosa with the fundus showing disc pallor, bony spicules and arteriolar attenuation. His anterior segment examination s...

A 60-year-old male patient admitted to our clinic with complaints of decreased vision, nyctalopia, and metamorphopsia in both eyes, mainly the left eye. The best-corrected visual acuity was determined as 20/25 on right 20/200 eye Snellen chart. Anterior segment examination normal. Fundus revealed chorioretinal atrophic areas bone spicules around all vascular arcades eyes. Optical coherence tomo...

PURPOSE Fenretinide (4HPR), a synthetic retinoid, induces apoptosis in neuroblastoma cells. A Phase I study in children with neuroblastoma was designed to determine maximum tolerated dose, toxicity, and pharmacokinetics. EXPERIMENTAL DESIGN Fifty-four patients received oral 4HPR, once daily, for 28 days, followed by a 7-day interruption, for up to 6 courses. The starting dose was 100 mg/m(2)/...

During a 2-year period, 31 cases of a hereditary retinal degeneration in dogs bred in India were found mainly suspected for progressive retinal atrophy (PRA) with typical history of initial nyctalopia followed by hemeralopia. Out of 31 PRA suspected dogs, 8 dogs (26%) were from the age group of 1-5 years, 15 (48%) 6-10 years and the rest (26%) 11-15 years. The most predominant breed was Spitz (...