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  1. Usher Syndrome Type II - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1341
    ... to-profound hearing loss: consider for cochlear implantation. Retinitis pigmentosa See Retinitis Pigmentosa Overview, Management . Argus II prosthesis ...
  2. Primary Coenzyme Q10 Deficiency Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK410087
    ... Overview . Early-onset ataxia. See Hereditary Ataxia Overview . Retinitis pigmentosa and optic atrophy. See Nonsyndromic Retinitis Pigmentosa Overview. ... resistant nephrotic syndrome, mitochondrial disorders of nuclear origin, retinitis pigmentosa, ataxia, or peripheral neuropathy) that includes the ten ...
  3. PMM2-CDG - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1110
    ... vision through glasses, patching, or surgery. Visual acuity, retinitis pigmentosa, & other eye issues Treatment per ophthalmologist No PMM2- ...
  4. McKusick-Kaufman Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1502
    ... but not in BBS [ Scott et al 2017 ]. Retinitis pigmentosa (RP) and polydactyly without other findings of BBS ... brother age 18 years were reported to have retinitis pigmentosa (RP) and four-limb postaxial polydactyly with a ...
  5. Single Large-Scale Mitochondrial DNA Deletion Syndromes - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1203
    ... Nonsyndromic Retinitis Pigmentosa Overview ; Sensorineural hearing loss and retinitis pigmentosa , see Usher Syndrome Type I and Usher Syndrome ...
  6. NLM Digital Collections - Selections from recent ophthalmic literature 
    Publication: New York : D. Appleton and Company, 1873
    resource.nlm.nih.gov/101747410
    ... nized. Before relating the account of his cases, reference is made to simi- ... retinitis pigmentosa from optic neuritis. Both in clinical features, in ...
  7. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... https://medlineplus.gov/genetics/condition/neuropathy-ataxia-and-retinitis-pigmentosa</url><title >Neuropathy, ataxia, and retinitis pigmentosa</title>< ...
  8. Rhizomelic Chondrodysplasia Punctata Type 1 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1270
    ... Trp75Cys and ASD, intellectual disability, epilepsy, and cataracts. Retinitis pigmentosa and peripheral neuropathy. An individual with the PEX7 ... had developmental delays and poor growth in childhood; retinitis pigmentosa and peripheral neuropathy developed in adolescence [ Braverman et ...
  9. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Sephardic ... 
    https://www.ncbi.nlm.nih.gov/books/NBK588574
    ... 1 Nevo et al [2013] , Zlotogora [2015] CERKL Retinitis pigmentosa AR c.238+1G>A (IVS1+1G>A) -- ~ ... 000391 ​.1 Falik-Zaccai et al [2012] EYS Retinitis pigmentosa AR c.[403delA;406G>T;410_424del15] 8 ...
  10. Bardet-Biedl Syndrome Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1363
    ... renal anomalies & polydactyly "Leanest" of obesity phenotype Nonsyndromic retinitis pigmentosa BBS4 5.3% ↓ penetrance of renal anomalies Early- ... less "syndromic" w/↓ penetrance of renal anomalies Nonsyndromic retinitis pigmentosa ARL6 (BBS3) 5.1% Least "syndromic" w/low ...
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