Pigmented paravenous retinochoroidal atrophy (PPRCA) is an uncommon disease characterized by perivenous aggregations of pigment clumps associated with peripapillary and radial zones of retinochoroidal atrophy that are distributed along the retinal veins. Patients are usually asymptomatic and the disease process is non-progressive or slow and subtly progressive. It is commonly bilateral and symm...

Gyrate atrophy (GA) is a rare, progressive metabolic choroid and retinal degeneration that results from a deficiency of the pyridoxal phosphate-dependent mitochondrial matrix enzyme ornithine aminotransferase. Here, we report the case of a 40-yearold woman who presented with a gradual decline in visual acuity since puberty, along with a history of high myopia and cataract surgery. She was admit...

A 47-year-old Japanese man had a progressive degeneration of the retina and choroid along the retinal veins associated with uveitis of two years' duration. The lesion was characteristic of paravenous retinochoroidal atrophy: a contiguous atrophy of the retinal pigment epithelium and choroid of one-half to one disc diameter in size was present along most of the veins from the posterior pole to t...

Background: Dogs have the second largest number of genetic diseases, after humans. Among the diseases present in dogs, progressive retinal atrophy has been reported in more than a hundred breeds. In some of them, the mutation has been identified and genetic tests have allowed the identification of carriers, thus enabling a drastic reduction in the incidence of the disease. The Finnish lapphund ...

A 55-year-old woman with extensive retinal crystalline deposition secondary to primary hyperoxaluria presented with bilateral loss of vision secondary to oxalate retinopathy. Enhanced depth imaging optical coherence tomography revealed intraretinal, subretinal, and intraretinal and subretinal pigment epithelium, and choroidal focal hyperreflective structures consistent with both neurosensory an...

purpose : to investigate the risk factors and causes for blindness in behcet’s disease (bd). methods : in this preliminary retrospective case series we have investigated 27 bd patients (54 eyes), legally blind (vision 0.1 or less) at least in one eye at the last visit (2006), and compared them with 54 eyes of 27 non-blind patients (control group), matched individually and consequently in terms ...

Background Tuberous Sclerosis Complex (TSC), and Spinal Muscular Atrophy (SMA) are two inherited disorders while they are genetically independent. TSC is characterized by the formation of multiple hamartomas in nearly all organs. SMA is a destructive neurological disorder leading to progressive muscular weakness and atrophy. Case Presentation</e...

BACKGROUND Several forms of progressive retinal atrophy (PRA) segregate in more than 100 breeds of dog with each PRA segregating in one or a few breeds. This breed specificity may be accounted for by founder effects and genetic drift, which have reduced the genetic heterogeneity of each breed, thereby facilitating the identification of causal mutations. We report here a new form of PRA segregat...

PURPOSE An early-onset retinal degenerative disease has been identified in Persian cats. This study genetically, clinically, and histologically characterized the disease. A breeding colony was established to assist with identification of the causative gene and to provide a resource for vision research. METHODS Cats were produced from testcross breedings. Kittens underwent serial ophthalmic an...