Adult-onset Vitelliform Macular Dystrophy
Last Posted: Mar 07, 2023
- ADULT-ONSET VITELLIFORM MACULAR DYSTROPHY SECONDARY TO A NOVEL IMPG2 GENE VARIANT.
Shah Saumya M, et al. Retinal cases & brief reports 2018 0 (4) 356-358
- Investigating the role of BEST1 and PRPH2 variants in the molecular aetiology of adult-onset vitelliform macular dystrophies.
Çavdarli Cemal, et al. Ophthalmic genetics 2020 0 (6) 585-590
- Novel BEST1 Mutations and Special Clinical Features of Best Vitelliform Macular Dystrophy.
Liu Jingshu, et al. Ophthalmic research 2016 4
- Adult-onset vitelliform macular dystrophy
From NCATS Genetic and Rare Diseases Information Center
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Feb 1, 2023
- Page last updated:Mar 25, 2023
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