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Leber congenital amaurosis 15
- ... Registry: Leber congenital amaurosis 14 Genetic Testing Registry: Leber congenital amaurosis 15 Genetic Testing Registry: Leber congenital amaurosis 16 Genetic ...
- ... afterward. Variants in the CEP290 gene account for 15 to 22 percent of all cases of Leber congenital amaurosis. A particular genetic change, written as 2991+1655A> ...
- ... Stone EM. Mutations in the CRB1 gene cause Leber congenital amaurosis. Arch ... retinal dystrophies. Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R235-43. doi: 10. ...
- Retinitis Pigmentosa (Foundation Fighting Blindness)Retinal Disorders/Specifics ... Retinal Disorders ... Usher Syndrome/Learn More ... Usher Syndrome ... Foundation Fighting Blindness ... What is Retinitis Pigmentosa? Learn about ...
- Choroideremia (Foundation Fighting Blindness)Retinal Disorders/Specifics ... Retinal Disorders ... Eye Diseases/Specifics ... Eye Diseases ... Foundation Fighting Blindness ... What is Choroideremia? Learn about the signs ...
- Bardet-Biedl Syndrome (Foundation Fighting Blindness)Retinal Disorders/Specifics ... Retinal Disorders ... Birth Defects/Specifics ... Birth Defects ... Foundation Fighting Blindness ... What is Bardet Biedl Syndrome? Learn about ...
- ... pattern of vision loss resembling a condition called Leber congenital amaurosis. In other people with Mainzer-Saldino syndrome, the ...
- Optic Nerve Hypoplasia (American Association for Pediatric Ophthalmology and Strabismus)Optic Nerve Disorders/Specifics ... Optic Nerve Disorders ... American Association for Pediatric Ophthalmology and Strabismus ... GLOSSARY, TERMS, ACRONYMS, PHRASES, ...