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27 results
  1. Retinitis pigmentosa 
    https://medlineplus.gov/ency/article/001029.htm
    American Academy of Ophthalmology website. New treatments for retinitis pigmentosa. www.aao.org/eye-health/tips-prevention/gene-therapy-new-retinitis-pigmentosa-lca-luxturna . Updated ...
  2. Effects of Omega-3 Fatty Acids on Eye Health: Summary - AHRQ Evidence Report Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK11888
    ... patients with cataracts? Degenerative Diseases of the Retina—Retinitis Pigmentosa (RP) What is the evidence for efficacy of ... trial of docosahexaenoic acid supplementation for X-linked retinitis pigmentosa. Am J Ophthalmol. 2004; 137 (4):704–18. [ ...
  3. 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 ...
  4. Joubert Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1325
    ... pigmentary retinopathy that may be indistinguishable from classic retinitis pigmentosa ; it can occasionally be severe with neonatal onset ... initially appear normal, a pigmentary retinopathy reminiscent of retinitis pigmentosa is frequently observed later in childhood. The electroretinogram ...
  5. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... same direction (strabismus) and an eye disorder called retinitis pigmentosa, which causes vision loss. Females with <html:i > ... condition may also develop an eye disorder called retinitis pigmentosa, in which breakdown of the light-sensitive layer ( ...
  6. Chronic Granulomatous Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK99496
    ... X-CGD and clinical manifestations of McLeod syndrome, retinitis pigmentosa, Duchenne muscular dystrophy, and/or ornithine transcarbamylase deficiency ...
  7. X-Linked Congenital Retinoschisis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1222
    ... XLRS). OFD1 RP2 RPGR (>80 genes) 1 Nonsyndromic retinitis pigmentosa XL 1 (AD, AR, digenic) RP: a group ... of inheritance; XL = X-linked; XLRP = X-linked retinitis pigmentosa; XLRS = X-linked congenital retinoschisis 1. More than ...
  8. Nephronophthisis-Related Ciliopathies - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK368475
    ... heart disease; DD = developmental delay; dz = disease; RP = retinitis pigmentosa 1. Genes are listed first by frequency of ... Associated features are kidney disease, liver disease, and retinitis pigmentosa [ Stembalska et al 2022 ]. The exact prevalence of ...
  9. Polycystic Kidney Disease, Autosomal Dominant - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1246
    ... thoracic dysplasia 9 w/polydactyly AR OMIM 266920 Retinitis pigmentosa AR Nonsyndromic Retinitis Pigmentosa Overview Leber congenital amaurosis AR Nephronophthisis w/subsequent ...
  10. Primary Ciliary Dyskinesia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1122
    ... and lower-airway disease) Sinopulmonary disease X-linked retinitis pigmentosa and sinorespiratory infections, with or without deafness (OMIM ... not likely if the affected individual has isolated retinitis pigmentosa and no respiratory manifestations. Cri-du-chat syndrome ( ...
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