purpose: retinitis pigmentosa (rp) is a hereditary eye disease in human beings. it commences at childhood and continues by nyctalopia and gradual reduction of visual field and ends up by blindness. it may be inherited in three forms of autosomal dominant, autosomal recessive and sex-linked. in this investigation we intend to study rp type as a sex-linked disease and its location on x chromosome...

800x600 unfortunately, at present, degenerative retinal diseases such as retinitis pigmentosa remains untreatable. patients with these conditions suffer progressive visual decline resulting from continuing loss of photoreceptor cells and outer nuclear layers. however, stem cell therapy is a promising approach to restore visual function in eyes with degenerative retinal diseases such as retiniti...

Of 107 consecutive patients with genetically-determined retinitis pigmentosa, 23 were provisionally diagnosed as having inherited the disease in an X-linked fashion. 42 affected males and 61 females were examined, and from the data obtained the following conclusions were drawn: (1) X-linked retinitis pigmentosa exists and is distinct from choroideremia. (2) In contrast to the results of previou...

Twenty-two of 23 obligate female carriers in nine families with known X-chromosome-linked retinitis pigmentosa were detected on the basis of abnormal full-field electroretinograms (ERGs). Only 14 of these carriers had fundus findings characteristic of the carrier state. Electroretinograms of carriers were either reduced in amplitude to white light under dark-adapted conditions or delayed in con...

Serum copper, serum caeruloplasmin, and urinary copper excretion were measured in 38 American patients (and 15 family members) with recessive, dominant, and X-linked forms of retinitis pigmentosa. No abnormalities were found, in contrast to the findings of a recent study on Indian patients. Our data argue against a role for copper metabolism in ordinary retinitis pigmentosa.

Background: Causes of blindness in children vary according to the region and socioeconomic development. Within a given country these causes vary with passage of time. This reflects different levels of socioeconomic development and provision of healthcare services. This cross-sectional study was undertaken to estimate the major causes of severe visual impairment in children and specially prevent...