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Results 1 - 8 of 8 for Leber congenital amaurosis 6
  1. Leber congenital amaurosis 
    ... Registry: Leber congenital amaurosis 5 Genetic Testing Registry: Leber congenital amaurosis 6 Genetic Testing Registry: Leber congenital amaurosis 7 Genetic ...
    https://medlineplus.gov/.../condition/leber-congenital-amaurosis - Genetics
  2. GUCY2D gene 
    ... cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA). Invest Ophthalmol Vis Sci. 2001 May;42(6):1190-2. Citation on PubMed Ugur Iseri SA, ...
    https://medlineplus.gov/genetics/gene/gucy2d - Genetics
  3. RPE65 gene 
    ... in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. Proc Natl Acad Sci U S A. 1998 Mar 17;95(6):3088-93. doi: 10.1073/pnas.95.6. ...
    https://medlineplus.gov/genetics/gene/rpe65 - Genetics
  4. Senior-Løken syndrome 
    ... called nephronophthisis and an eye condition known as Leber congenital amaurosis.Nephronophthisis causes fluid-filled cysts to develop in ... fluids and waste products from the body effectively.Leber congenital amaurosis primarily affects the retina, which is the specialized ...
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome - Genetics
  5. CEP290 gene 
    ... the CEP290 gene have been found to cause Leber congenital amaurosis. Leber congenital amaurosis is an eye disorder that primarily affects the ... 15 to 22 percent of all cases of Leber congenital amaurosis. A particular genetic change, written as 2991+1655A> ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  6. Mainzer-Saldino syndrome 
    ... pattern of vision loss resembling a condition called Leber congenital amaurosis. In other people with Mainzer-Saldino syndrome, the ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
  7. Keratoconus 
    ... be a feature of genetic syndromes, such as Leber congenital amaurosis and arterial tortuosity syndrome. When it is part ...
    https://medlineplus.gov/genetics/condition/keratoconus - Genetics
  8. CRX gene 
    ... This Health Condition MedlinePlus Genetics provides information about Leber congenital amaurosis More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/crx - Genetics