A28 year old man with retinitis pigmentosa (RP) presents with his 4 year old daughter who is afraid of the dark and is bed wetting. He would like his daughter to have a DNA test to determine whether she has RP. The man was diagnosed with RP at age 7 years after his parents noted nyctalopia and he had a confirmatory electroretinogram (ERG). The man’s father was diagnosed at age 30 years, while t...

Purpose of this study was to characterize retinal disease in Usher syndrome using fundus autofluorescence and optical coherence tomography. Study included 54 patients (26 male, 28 female) aged 7-70 years. There were 18 (33%) USH1 and 36 (67%) USH2 patients. 49/52 (94%) patients were found to carry at least one mutation in Usher genes. Ophthalmological examination included assessment of Snellen ...

PURPOSE To report an unusual case of paraneoplastic pseudovitelliform lesions associated with melanoma-associated retinopathy (MAR). DESIGN Observational case report. METHODS Retrospective review of the ophthalmic examination, fundus photography, fluorescein angiography, electroretinogram (ERG), and optical coherence tomography (OCT) of a patient with MAR. RESULTS A 65-year-old Caucasian ...

Purpose To describe the retinal clinical features of a group of Mexican patients with Stargardt disease carrying the uncommon p.Ala1773Val founder mutation in ABCA4. Methods Ten patients carrying the p.Ala1773Val mutation, nine of them homozygously, were included. Visual function studies included best-corrected visual acuity, electroretinography, Goldmann kinetic visual fields, and full-field...

PURPOSE To present a detailed phenotypic and molecular study of two families with autosomal dominant RPE65-related retinal dystrophy. METHODS Five patients from two families were ascertained from the retinal clinics of a tertiary referral center. Phenotyping included retinal imaging and electrophysiological testing. Bidirectional Sanger sequencing of exon 13 of RPE65 and its intron-exon bound...

PURPOSE To describe the clinical findings of a patient with an early onset retinal dystrophy and a novel mutation in OTX2, and to compare these findings with previously reported cases. METHODS Using direct sequencing, we screened 142 patients, who had either Leber congenital amaurosis (LCA) or early onset retinal dystrophy (EORD), for mutations in OTX2. All patients received a detailed ophtha...

Purpose To report an atypical case of unifocal, unilateral pigmented paravenous retinochoroidal atrophy (PPRCA) characterized by thickening and cystic degeneration of the retinal nerve fiber layer (RNFL). Observations A 79-year old Asian woman presented with a large area of atrophic, pigmented change along the inferior arcade of her right eye. She denied nyctalopia and any other visual compla...

INTRODUCTION Turkana is the largest district in Kenya, situated in the Northwest of the country. It features a semi-nomadic population of 850,000. Around 60% of population lives below the poverty threshold. The ratio of doctors is 1:75,000 inhabitants. Five ophthalmologists took part in the last deployment in November. Local staff had previously selected the patients from the rural areas, as we...

Choroideremia (CHM) is an X- linked retinal degeneration that is symptomatic in the 1(st) or 2(nd) decade of life causing nyctalopia and loss of peripheral vision. The disease progresses through mid-life, when most patients become blind. CHM is a favorable target for gene augmentation therapy, as the disease is due to loss of function of a protein necessary for retinal cell health, Rab Escort P...

PURPOSE To examine the corneal electroretinogram (ERG) of transgenic mice (W70A mice) carrying a point mutation (W70A) in the gene encoding for the gamma-subunit of rod cGMP phosphodiesterase (PDEgamma). METHODS The ERG of W70A mice was compared with that of normal mice. Cone responses were separated from rod responses by light adaptation, whereas rod sensitivity was assessed by threshold sti...