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  1. Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK583531
    ... neuropathy. Long-term complications include peripheral neuropathy and retinopathy. Diagnosis/testing. The diagnosis of LCHAD/TFP deficiency is ... but may not completely prevent this complication. 5 ... ophthalmologist Early diagnosis & strict dietary therapy may delay onset or slow ...
  2. Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1169
    ... al [2014] 1. Biallelic variants are associated with retinal disease. Differential Diagnosis The differential diagnosis of autosomal dominant sleep-related ...
  3. Diabetes and eye disease 
    https://medlineplus.gov/ency/article/001212.htm
    Most often, diabetic retinopathy has no symptoms until the damage to your eyes is severe. This is because damage to much of the retina can occur ... seeing at night Many people with early diabetic retinopathy have no symptoms before bleeding occurs in the eye. This is ...
  4. Diabetic Retinopathy | Diabetic Eye Disease | MedlinePlus 
    https://medlineplus.gov/diabeticeyeproblems.html
    ... in Spanish Diabetic Retinopathy (National Eye Institute) Diabetic Retinopathy: Causes, Symptoms, Treatment (American Academy of Ophthalmology) Also in Spanish ...
  5. Werner Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1514
    ... lamp exam for cataracts; eval for glaucoma & diabetic retinopathy At diagnosis Cardiovascular Use of a 10-yr risk calculator & ...
  6. Meet the NLM Investigators: Dr. Michael Chiang is Working to Eliminate Vision Loss – NLM Musings from the Mezzanine 
    https://nlmdirector.nlm.nih.gov/...-working-to-eliminate-vision-loss
    ... work to develop and validate telemedicine systems for retinopathy prematurity diagnosis. And now what we’re starting to do ...
  7. NLM Digital Collections - AIDS bibliography, 1986-1987 
    Publication: [Bethesda, Md.] : Reference Section, Public Services Division, National Library of Medicine, U.S. Department of Health and Human Services, Public Health Service, National Institutes of Health, 1987
    resource.nlm.nih.gov/101036956
    ... Lymphoma-DIAGNOSIS/ Meningitis- -DIAGNOSIS/ Myelitis-DIAGNOSIS/ ♦Neurologic Manifestations/ Retinal Diseases-DIAGNOSIS/ Review/ Toxoplasmosis-DIAGNOSIS Kesselring J ; Schmid M ; Pirovino ...
  8. Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK546576
    ... glaucoma may develop as a complication of vascular retinopathy. Neurologic Features Symptoms Focal neurologic symptoms were reported in 40/72 ... leukoencephalopathy and systemic manifestations (RVCL-S), the differential ... and vascular retinopathy seen in RVCL-S. For other inherited disorders ...
  9. NLM Digital Collections - Voretigene neparvovec for biallelic RPE65-mediated retinal disease : effectiveness and value :... 
    Publication: [Boston, Massachusetts] : Institute for Clinical and Economic Review, February 14, 2018
    resource.nlm.nih.gov/101744949
    ... that alter the natural history of RPE65-mediated retinal disease. Clinical diagnosis for biallelic RPE65-mediated retinal disease is difficult ... issued eye care guidelines for patients with inherited retinal disease. These ... on the diagnosis and screening of IRDs. Genetic testing and screening ...
  10. CTNNB1 Neurodevelopmental Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK580527
    ... are shown in Table 3 . Table 3. Pediatric Retinal Diseases in the Differential Diagnosis of CTNNB1 Neurodevelopmental Disorder and Exudative Vitreoretinopathy View ...
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