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346 results

  1. Choroideremia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1337
    ... subcapsular cataracts are similar to those observed in retinitis pigmentosa. Cystoid macular edema has been reported. Heterozygous females ... Overlapping Features Distinguishing Features ~80 genes 1 Nonsyndromic retinitis pigmentosa (RP) AD AR XL 3 The symptoms of ...
  2. Bietti Crystalline Dystrophy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK91457
    ... retinal degeneration that fall under the category of retinitis pigmentosa and allied disorders, namely: reduced visual acuity, poor ... similar to those of individuals with autosomal recessive retinitis pigmentosa . The presenting symptom, rate of disease progression, and ...
  3. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Ashkenazi ... 
    https://www.ncbi.nlm.nih.gov/books/NBK535149
    ... et al [2017] , Zlotogora et al [2018] DHDDS Retinitis pigmentosa, nonsyndromic AR c.124A>G p.Lys42Glu <100% ... et al [2010] , Lazarin et al [2013] EYS Retinitis pigmentosa AR c.9286_9295delGTAAATATCG p.Val3096LeufsTer28 <100% 4 ...
  4. Cranioectodermal Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK154653
    ... IFT43 and IFT140 have been associated with isolated retinitis pigmentosa 81 (OMIM 617871 ) and isolated retinitis pigmentosa 80 (OMIM 617781 ), respectively. Other autosomal recessive phenotypes ...
  5. Charcot-Marie-Tooth Hereditary Neuropathy Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1358
    ... Linked Adrenoleukodystrophy ABHD12 AR Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, & cataract (PHARC) OMIM 612674 FXN AR Friedreich ataxia ...
  6. Zellweger Spectrum Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1448
    ... w/prominent neurologic & myopathic features >80 genes 4 Retinitis pigmentosa AD AR XL (Digenic) Progressive visual loss ADGRV1 ... recessive; Mat = maternal; MOI = mode of inheritance; RP = retinitis pigmentosa; SNHL = sensorineural hearing loss; XL = X-linked 1. ...
  7. PNPLA6 Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK247161
    ... of inheritance; NARP = neurogenic muscle weakness, ataxia, and retinitis pigmentosa; RP = retinitis pigmentosa; SCA = spinocerebellar ataxia 1. Abetalipoproteinemia ...
  8. 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 ...
  9. 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 ...
  10. 2019New_Mesh_Tree_Hierarchy.txt 
    https://www.nlm.nih.gov/.../download/2019New_Mesh_Tree_Hierarchy.txt
    ... C11.270.660 Retinal Dysplasia C11.270.684 Retinitis Pigmentosa C11.270.684.249 Alstrom Syndrome C11.270. ... Cone-Rod Dystrophies C11.768.585.658.500 Retinitis Pigmentosa C11.768.585.658.500.627 Kearns-Sayre ...
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