Inherited and orphan retinal diseases: Phenotypes, genotypes, and probable treatment groups

Retina

Volumn 25, Issue 8 SUPPL., 2005, Pages

  Weleber, Richard G ^a  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC GMP; GUANYLATE CYCLASE; PERIPHERIN; RETINA S ANTIGEN; RHODOPSIN; RHODOPSIN KINASE; TRANSDUCIN;

AGE DISTRIBUTION; BLINDNESS; CHOROIDEREMIA; CONFERENCE PAPER; DISEASE ASSOCIATION; ELECTRORETINOGRAM; GENE MUTATION; GENETIC DISORDER; GENOTYPE; HEREDITY; HUMAN; LEBER CONGENITAL AMAUROSIS; NONHUMAN; PHENOTYPE; PHOTOTRANSDUCTION; PIGMENT EPITHELIUM; RETINA DEGENERATION; RETINA DISEASE; RETINA DYSTROPHY; RETINA MACULA AGE RELATED DEGENERATION; RETINA ROD; RETINITIS PIGMENTOSA; RETINOPATHY; RNA INTERFERENCE; STARGARDT DISEASE; UNITED STATES; VISION; VISUAL IMPAIRMENT; EYE DISEASE; GENETICS; MEDICAL RESEARCH; PATHOLOGY; RARE DISEASE; REVIEW;

BIOMEDICAL RESEARCH; EYE DISEASES, HEREDITARY; GENOTYPE; HUMANS; PHENOTYPE; RARE DISEASES; RETINAL DISEASES;

EID: 33644876007     PISSN: 0275004X     EISSN: None     Source Type: Journal    
DOI: 10.1097/00006982-200512001-00002     Document Type: Conference Paper

References (5)

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2. Van Hooser JP, Aleman TS, He YG, et al. Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness. Proc Natl Acad Sci U S A 2000;97:8623-8628.
3. Znoiko SL, Rohrer B, Lu K, et al. Downregulation of cone-specific gene expression and degeneration of cone photoreceptors in the rpe65-/- mouse at early ages. Invest Ophthalmol Vis Sci 2005;46:1473-1479.
4. Rivolta C, Sweklo EA, Berson EL, Dryja TP. Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. Am J Hum Genet 2000;66:1975-1978.
5. Radu RA, Mata NL, Nusinowitz S, Liu X, Sieving PA, Travis GH. Treatment with isotretinoin inhibits lipofuscin accumulation in a mouse model of recessive Stargardt's macular degeneration. Proc Natl Acad Sci U S A 2003;100:4742-4747.