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- MT-ATP6 - MT-ATP6 is a gene associated with neuropathy, ataxia, and retinitis pigmentosa.
- Carl-Henry Alström - Carl-Henry Alström (1907-1993) was a Swedish psychiatrist who described a syndrome now named for him, Alström syndrome, an hereditary disorder that characteristically includes obesity in childhood, nerve deafness and retinal degeneration (due to atypical retinitis pigmentosa).
- Refsum's syndrome - Refsum Disease (also called Refsum's Syndrome) is a genetic disorder that primarily affects the nervous system with a series of debilitating symptoms. Some symptoms include: degenerative nerve disease (peripheral neuropathy); vision loss (retinitis pigmentosa); loss of muscle control/coordination (ataxia); and possibly scaly, dry skin and scalp (ichthyosis).
- Flynn Aird syndrome - Flynn-Aird Syndrome is a rare, autosomal dominant, hereditary degenerative neurological disorder characterized by early-onset dementia, ataxia, muscle wasting, skin atrophy, and eye abnormalities. It may cause cataracts, retinitis pigmentosa, myopia, dental caries, peripheral neuropathy, deafness, and cystic bone changes.
- Retinal implant - A retinal implant is a biomedical implant technology currently being developed by a number of private companies and research institutions worldwide. The implant is meant to partially restore useful vision to people who have lost theirs due to degenerative eye conditions such as retinitis pigmentosa or macular degeneration.