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141 results

  1. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Faroe Islander .... 
    https://www.ncbi.nlm.nih.gov/books/NBK551090
    ... NP_114413 ​.1 Grønskov et al [2013] MERTK Retinitis pigmentosa 38 (See Nonsyndromic RP Overview .) AR c.-8162_ ... AR = autosomal recessive; MOI = mode of inheritance; RP = retinitis pigmentosa 1. Does not conform to standard HGVS nomenclature ...
  2. 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 ...
  3. 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 ...
  4. Lutein 
    https://medlineplus.gov/druginfo/natural/754.html
    ... poor night vision and loss of side vision (retinitis pigmentosa). Taking lutein by mouth doesn't improve vision or other symptoms in people with retinitis pigmentosa. An eye disorder in premature infants that can ...
  5. 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 ( ...
  6. 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 [ ...
  7. xmlmplus_topics_2025-07-25.xml 
    https://medlineplus.gov/xml/mplus_topics_2025-07-25.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 ...
  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. Mucopolysaccharidosis Type III - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK546574
    ... are also known to be associated with nonsyndromic retinitis pigmentosa (OMIM 616544 ). No phenotypes other than those discussed ... JE, van Schooneveld MJ. Adult-onset dementia and retinitis pigmentosa due to mucopolysaccharidosis III-C in two sisters. ...
  10. 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 ...
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