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Results 1 - 9 of 9 for Leber congenital amaurosis 2
  1. Leber congenital amaurosis 
    ... Registry: Leber congenital amaurosis 18 Genetic Testing Registry: Leber congenital amaurosis 2 Genetic Testing Registry: Leber congenital amaurosis 3 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, Durlu YK, ...
    https://medlineplus.gov/genetics/gene/gucy2d - Genetics
  3. Senior-Løken syndrome 
    ... syndrome: revisited. Pediatrics. 1994 Jul;94(1):111-2. No abstract available. Citation on PubMed
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome - Genetics
  4. CRB1 gene 
    ... Stone EM. Mutations in the CRB1 gene cause Leber congenital amaurosis. Arch ... Genet. 2006 Oct 15;15 Spec No 2:R235-43. doi: 10.1093/hmg/ddl195. Citation ...
    https://medlineplus.gov/genetics/gene/crb1 - 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. RPE65 gene 
    ... the RPE65 gene have been found to cause Leber congenital amaurosis. This condition is an eye disorder that primarily ... visual impairment beginning very early in life in Leber congenital amaurosis. More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/rpe65 - Genetics
  7. 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
  8. 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
  9. 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