1 Sonoda T, Hashimoto H, Enjoji M. Juvenile xanthogranuloma: clinicopathological analysis and immnunohistochemical study of 57 patients. Cancer 1985; 56: 2280-6. 2 Zimmerman LE. Ocular lesions of juvenile xanthogranuloma. AmJI Ophthalmol 1965; 60: 1011-35. 3 Collum LMT, Mullaney J. Adult limbal xanthogranuloma. BrJ Ophthalmol 1984; 68: 360-3. 4 Lewis JR, Drummond GT, Mielke BW, Hassard DT, Astl...

In the vertebrate retina, the final step of visual chromophore production is the oxidation of 11-cis-retinol to 11-cis-retinal. This reaction is catalyzed by 11-cis-retinol dehydrogenases (11-cis-RDHs), prior to the chromophore rejoining with the visual pigment apo-proteins. The RDH5 gene encodes a dehydrogenase that is responsible for the majority of RDH activity. In humans, mutations in this ...

PURPOSE To characterize the genetic defects associated with fundus albipunctatus (FAP) in patients in Israel. METHODS Twenty patients with FAP from diverse ethnicities underwent ophthalmic and electroretinogram tests following the International Society for Clinical Electrophysiology of Vision protocol. Genomic DNA was extracted from peripheral blood. Mutation analysis of the 11-cis retinol de...

PURPOSE To develop a contact lens electrode with a built-in blue light-emitting diode (LED) to record the electroretinogram from short-wave sensitive-cone (S-cone) electroretinogram (ERG) in humans. METHODS The ERG was recorded using the blue LED (450 nm) built-in electrode under a yellow background illumination from a slide projector in five normal subjects, a patient with blue cone monochro...

Fundus albipunctatus (FA) is a rare autosomal recessive form of stationary night blindness characterized by the presence of white or white-yellow dots in the perimacular area and the periphery of the retina, with or without macular involvement. In this study, we examined four Chinese families with FA. Patients were given complete ophthalmic examinations, and blood samples were collected for DNA...