Photoreceptor Layer Topography in Children with Leber Congenital Amaurosis Caused byRPE65Mutations
نویسندگان
چکیده
منابع مشابه
Predominant rod photoreceptor degeneration in Leber congenital amaurosis.
PURPOSE An unusual retinal vascular morphology in an enucleated eye from a patient with Leber congenital amaurosis (LCA) has been associated with a mutation in AIPL1. The AIPL1 protein is expressed in the pineal gland and retinal photoreceptors. In the retina, AIPL1 is expressed in both developing cone and rod photoreceptors, but it is restricted to rod photoreceptors in the adult human retina....
متن کاملLeber congenital amaurosis
Key words Disease name /synonyms Definition / Diagnostic criteria Differential diagnosis Etiology Clinical description Diagnostic methods Epidemiology Genetic counseling Prenatal diagnosis Management including treatment Unresolved questions References Abstract Leber congenital amaurosis (LCA) is a retinal dystrophy and/or dysplasia of prenatal onset. About 10 to 20% of blind children are though...
متن کاملLeber congenital amaurosis caused by mutations in RPGRIP1.
Recessive null mutations in retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) gene are the cause of LCA6 and account for 5% to 6% of the total patient population. RPGRIP1 has an essential role in the photoreceptor connecting cilia, and photoreceptors lacking RPGRIP1 are unable to maintain the light sensing outer segments. As a result, patients lose retinal functions at an ea...
متن کاملDisc oedema in congenital amaurosis of Leber.
Since it was first described by Theodor Leber as 'pigmentary retinitis with congenital amaurosis' (Leber, I867), the entity which bears his name has been the subject of sporadic reports defining its clinical and pathological characteristics. It accounted for about io per cent of the blindness in Sweden (Alstrom and Olsen, 1957) and i8 per cent among children in a series in Holland (SchappertKim...
متن کاملThe expression of the Leber congenital amaurosis protein AIPL1 coincides with rod and cone photoreceptor development.
PURPOSE The Leber congenital amaurosis (LCA) protein AIPL1 is present only in the rod photoreceptors of the adult human retina and is excluded from the cone photoreceptors. LCA, however, is characterized by an absence of both rod and cone function at birth or shortly thereafter. Therefore, this study was conducted to determine whether AIPL1 is present in the rod and cone photoreceptors of the d...
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ژورنال
عنوان ژورنال: Investigative Opthalmology & Visual Science
سال: 2008
ISSN: 1552-5783
DOI: 10.1167/iovs.08-2121