PURPOSE: An unusual retinal vascular morphology in an enucleated eye from a @entity1 with @entity26000 ( @entity26000 ) has been associated with a mutation in @entity32307 . The @entity32307 protein is expressed in the pineal gland and retinal photoreceptors. In the retina, @entity32307 is expressed in both developing cone and rod photoreceptors, but it is restricted to rod photoreceptors in the adult @entity1 retina. Therefore, this study was conducted to determine the photoreceptor phenotype in this @entity26000 @entity1 to determine if photoreceptors were differentially affected. METHODS: Additional genetic screening was performed and the consequences of the @entity68150 @entity535 substitution characterized in an in vitro assay of @entity16930 modulation. The morphology of the photoreceptors was examined by light and electron microscopy. Immunohistochemistry and immunofluorescent confocal microscopy was performed using a range of retinal photoreceptor markers. RESULTS: Transfection of the @entity68150 mutant @entity32307 in SK-N-SH cells revealed a normal subcellular localization and solubility but resulted in an increased ability of @entity32307 to redistribute @entity16930 to the cytoplasm and resolve @entity16930 fragment inclusion formation. Morphologically, the @entity26000 appeared to be cone-dominant with a single layer of cone-like cells remaining in the central retina. Photoreceptor outer segments were absent and the surviving residual inner segments were severely shortened. @entity528 was associated with upregulation of @entity538 ( @entity538 ). No signal was detected for @entity32307 , @entity8695 , or L/M and S cone opsins in the @entity26000 . Double labeling with peanut agglutinin (PNA) and @entity3505 germ agglutinin (WGA) supported a cone-dominant phenotype for the surviving photoreceptors in the @entity26000 , as did double labeling for cone arrestin, and rod and cone @entity24739 . The cone arrestin signal was restricted to the residual photoreceptor inner segments and was not detected in the cell bodies, axons, or axon terminals of the surviving photoreceptors. @entity24739 immunoreactivity was most intense in the residual photoreceptor inner segments. CONCLUSIONS: The phenotype in this @entity1 suggests that although @entity32307 is required for the development of normal rod and cone photoreceptor function, it might only be essential for rod and not cone survival in the adult.

Predominant rod photoreceptor degeneration in XXXX .

@entity1 :: ('9606', 'Species') :: ['human', 'patient'] @entity68150 :: ('p|SUB|H|82|Y', 'ProteinMutation') :: ['H82Y'] @entity535 :: ('CHEBI:33704', 'Chemical') :: ['amino acid'] @entity8695 :: ('6010', 'Gene') :: ['rhodopsin'] @entity32307 :: ('23746', 'Gene') :: ['AIPL1'] @entity538 :: ('2670', 'Gene') :: ['GFAP', 'glial fibrillary acidic protein'] @entity16930 :: ('51667', 'Gene') :: ['NUB1', 'GFP-NUB1'] @entity24739 :: ('5957', 'Gene') :: ['recoverin', 'Recoverin'] @entity26000 :: ('MESH:D057130', 'Disease') :: ['Leber congenital amaurosis', 'LCA retina', 'LCA'] @entity3505 :: ('4565', 'Species') :: ['wheat'] @entity528 :: ('MESH:D009410', 'Disease') :: ['Severe degeneration of the LCA retina']
@entity26000 :: (MESH:D057130,Disease) :: ['Leber congenital amaurosis']
