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481 results
  1. Danon Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK554742
    ... these issues are directly related to Danon disease. Retinopathy. The retinopathy described in variable detail in earlier ... language eval Eval for early intervention/special education Retinopathy Retinal exam for evidence of cone-rod dystrophy ...
  2. 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 Review Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. ... and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital ...
  3. Primary Coenzyme Q10 Deficiency Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK410087
    ... loss Audiometry w/particular attention to possible SNHL Retinopathy Ophthalmologic eval & electroretinogram in all persons Particular attention ... Hearing Loss Overview . Cardiomyopathy Per standard treatment protocols Retinopathy Per treating ophthalmologist & low vision services Other Neurologic ...
  4. Additional Background and Contextual Questions - Screening for Prediabetes and Type 2 Diabetes Mellitus in Children and ... 
    https://www.ncbi.nlm.nih.gov/books/NBK584386
    ... level, 2-hour glucose tolerance test results, subclinical retinopathy, microalbuminuria, or subclinical neuropathy for children and adolescents? ... level, 2-hour glucose tolerance test results, subclinical retinopathy, microalbuminuria, or subclinical neuropathy? Summary Among those recently ...
  5. Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK546576
    ... individuals with RVCL-S [ Stam et al ... retinopathy, nephropathy and stroke syndrome. Clin Exp Ophthalmol. 2005; ...
  6. Health economics - Cataracts in adults: management - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK536591
    ... Yes 2.28 (1.87, 2.77) Diabetic retinopathy  No 1.00  Yes 1.73 (1.16, ... cataract surgery by HRG code and activity - NHS Reference Costs 2014–15 View in own window Phacoemulsification ...
  7. Single Large-Scale Mitochondrial DNA Deletion Syndromes - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1203
    ... hearing loss , see Genetic Hearing Loss Overview ; Pigmentary retinopathy , see Nonsyndromic Retinitis Pigmentosa Overview ; Sensorineural hearing loss ... posted live 17 July 2003 (sdm) Original submission References Literature Cited Al-Gadi IS, Haas RH, Falk ...
  8. Joubert Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1325
    ... with a Y-shaped metacarpal. Joubert syndrome with retinal disease (JS-Ret) is characterized by a pigmentary retinopathy ... posted live 27 January 2003 (mp) Original submission References Published Guidelines / Consensus Statements Parisi MA, Doherty D, ...
  9. Spastic Paraplegia 15 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK570772
    ... with bradykinesia, rigidity, tremor, and postural instability. Pigmentary retinopathy, classically described as part of Kjellin syndrome, may ... posted live 22 February 2021 (def) Original submission References Literature Cited Araujo FMM, Junior WM, Tomaselli PJ, ...
  10. Sickle Cell Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1377
    ... ACS or clinical manifestations of pulmonary disease 3 Retinopathy Ophthalmologist exam for proliferative retinopathy Annually beginning at ... posted live 21 April 2003 (ev) Original submission References Published Guidelines / Consensus Statements American College of Emergency ...
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