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81 results
  1. 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 ...
  2. 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 ...
  3. 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 ...
  4. 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 ...
  5. xmlmplus_topics_2025-06-07.xml 
    https://medlineplus.gov/xml/mplus_topics_2025-06-07.xml
    ... causa una pérdida grave de la audición y retinitis pigmentosa, un trastorno ocular que causa un deterioro de ... and <a href="https://medlineplus.gov/retinaldisorders.html">retinitis pigmentosa</a>, an eye disorder that causes your vision ...
  6. 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 ( ...
  7. MERRF - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1520
    ... Features of MERRF & NARP in 1 person 2 Retinitis pigmentosa POLG POLG -related disorders AR Myoclonus, epilepsy, ataxia, ... maternal; MOI = mode of inheritance; NARP = neuropathy-ataxia-retinitis pigmentosa; RRF = ragged red fibers 1. Crimi et al [ ...
  8. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Acadian ... 
    https://www.ncbi.nlm.nih.gov/books/NBK580717
    ... NP_000160 ​.1 Branton et al [2002] HK1 Retinitis pigmentosa 79 (OMIM 617460 ) AD c.2539G>A p. ... novel gene on 10q22.1 causing autosomal dominant retinitis pigmentosa (adRP). Adv Exp Med Biol. 2016; 854 :193– ...
  9. Excluded studies - Age-related macular degeneration - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK536459
    ... Melia M, Dagnelie G. 2006. Lutein supplementation in retinitis pigmentosa: PC-based vision assessment in a randomized double- ... EPIRET3 prospective clinical trial Target group [patients with retinitis pigmentosa (RP)] Russell (1997)Randomised controlled trial of an ...
  10. Bohring-Opitz Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK481833
    ... Absence of high myopia & retinal/optic nerve atrophy Retinitis pigmentosa in childhood Hyperthermia Oropharyngeal muscle contraction AD = autosomal ... Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa. Am J Hum Genet. 2016; 99 :236–45. [ ...
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