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  1. RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK549574
    ... Disorders View in own window Gene MOI Disorder Reference RPE65 AR Typical retinitis pigmentosa (RP type 20) 1 Nonsyndromic Retinitis Pigmentosa Overview ...
  2. Nonsyndromic Retinitis Pigmentosa Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1417
    ... Retinitis Pigmentosa in a Proband Management of Nonsyndromic Retinitis Pigmentosa Genetic Risk Assessment Resources Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  3. Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1169
    ... View in own window Gene Disorder(s) GeneReview / Reference CABP4 1 Cone rod dystrophy Retinitis pigmentosa Leber congenital amaurosis Leber Congenital Amaurosis / Early-Onset ...
  4. Oral-Facial-Digital Syndrome Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1188
    ... males with Joubert syndrome, primary ciliary dyskinesia, and retinitis pigmentosa (see Table 3 ; reviewed in [ Pezzella et al 2022 ]). Table 3. OFD1 Allelic Disorders View in own window Disorder References OFD1 -related Joubert syndrome Coene et al [2009] , ...
  5. Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK531510
    ... Review Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. Weleber RG, Francis PJ, Trzupek KM, Beattie C. GeneReviews(®). 1993 Review Nonsyndromic Retinitis Pigmentosa Overview. [GeneReviews(®). 1993] Review Nonsyndromic Retinitis Pigmentosa Overview. ...
  6. Usher Syndrome | MedlinePlus 
    https://medlineplus.gov/ushersyndrome.html
    ... on Deafness and Other Communication Disorders Learn More Retinitis Pigmentosa (Foundation Fighting Blindness) ... (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
  7. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Faroe Islander .... 
    https://www.ncbi.nlm.nih.gov/books/NBK551090
    ... AR = autosomal recessive; MOI = mode of inheritance; RP = retinitis pigmentosa 1. Does not conform to standard HGVS ... Bull LN, van Eijk MJT, Pawlikowska L, DeYoung ...
  8. Usher Syndrome Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1265
    ... Khateb et al 2012 ] HL = hearing loss; RP = retinitis ... See Quick Reference for an explanation of nomenclature. 1. Genes from ...
  9. Retinal Disorders 
    https://medlineplus.gov/retinaldisorders.html
    The retina is a layer of tissue in the back of your eye. It senses light and sends images to your brain. Learn about retinal disorders and treatments. ...
  10. Joubert Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1325
    ... Genome Variation Society ( varnomen ​.hgvs.org ). See Quick Reference for an ... (retinitis pigmentosa GTPase regulator) interacting domain, and a centrosomal protein- ...
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