Results 111 to 120 of about 2,525,884 (192)

Stem cell therapy as treatment for Stargardt disease

Therapeutic Advances in Ophthalmology
Stargardt disease or Juvenile Macular Degeneration is a rare genetic disorder caused by a mutation in the ABCA4 gene that results in degeneration of the macula and loss of central vision.
Erica Marks, Adith Anugu, Joseph Bisiani, Srinivas Pentyala   +3 more
doaj   +1 more source

A Subgroup of Age-Related Macular Degeneration is Associated With Mono-Allelic Sequence Variants in the ABCA4 Gene

, 2012
PURPOSE. Age-related macular degeneration (AMD) is a heterogeneous condition of high prevalence and complex etiology involving genetic as well as environmental factors. By fundus autofluorescence (FAF) imaging, AMD can be classified into several distinct
Weber, Bernhard H. F., Fritsche, L. G., Fiebig, B. S., Fleckenstein, M.   +3 more
core   +1 more source

Ophthalmic manifestations of ROSAH syndrome - A case report

Indian Journal of Ophthalmology. Case Reports
Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache (ROSAH) syndrome is an autosomal dominant disorder, and genome-wide sequencing has identified the ALPK1 gene as the cause of this rare systemic ocular disorder.[1] We report a ...
Sudha K Ganesh, A Anshukita, Saloni Desai, Muna Bhende, S Sripriya   +4 more
doaj   +1 more source

Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene.

, 2002
Item does not contain fulltextPURPOSE: To describe the phenotype of 12 patients with autosomal recessive or isolated cone-rod types of progressive retinal degeneration (CRD) caused by mutations in the ABCA4 gene.
Klevering, B.J., Maugeri, A., Blankenagel, A., Rohrschneider, K., Cremers, F.P.M., Hoyng, C.B.   +5 more
core  

Association of a homozygous nonsense mutation in the ABCA4 (ABCR) gene with cone-rod dystrophy phenotype in an Italian family

, 2004
Genetic variation in the ABCA4 (ABCR) gene has been associated with several distinct retinal phenotypes, including Stargardt disease/fundus flavimaculatus (STGD/FFM), cone-rod dystrophy (CRD), retinitis pigmentosa (RP) and age-related macular ...
Zernant J, ROSSI, Settimio, Rinaldi E, Nesti A, SIMONELLI, Francesca, Allikmets R., TESTA, Francesco   +6 more
core   +1 more source

Identification of a Novel Mutation in the ABCA4 Gene in a Chinese Family with Retinitis Pigmentosa Using Exome Sequencing. [PDF]

Biosci Rep, 2018
Huang X, Yuan L, Xu H, Zheng W, Cao Y, Yi J, Guo Y, Yang Z, Li Y, Deng H.   +9 more
europepmc   +1 more source

Association between genotype and phenotype in families with mutations in the ABCA4 gene.

Molecular vision, 2014
To investigate the genotype and phenotype in families with adenosine triphosphate-binding cassette, sub-family A, member 4 (ABCA4)-associated retinal degeneration.Three families with at least one family member with known homozygous or compound heterozygote mutations in the ABCA4 gene were studied.
openaire   +1 more source

Generation of a compound heterozygous ABCA4 rat model with pathological features of STGD1

International audienceThe ABCA4 protein plays an essential role in mammalian vision, ensuring the correct localization of all-trans-retinal within the visual cycle.
Veziers, Joëlle, Anegon, Ignacio, Morival, Clément, Libeau, Lyse, Provost, Nathalie, Cronin, Therese, Remy, Séverine, Mendes-Madeira, Alexandra, Tesson, Laurent, Croyal, Mikaël, Isiegas, Carolina, Mortier, Elodie, Adjali, Oumeya, Demilly, Joanna   +13 more
core   +1 more source

Loss of ABCA4 from photoreceptor discs is associated with glial transcriptomic changes in retinal organoids. [PDF]

Stem Cells
Valenzano R, McDonald A, Gallego C, Andriessen CA, Moustakas I, Mulder AA, Mikkers HMM, Koning RI, Mei H, Wijnholds J.   +9 more
europepmc   +1 more source

Retinal Phenotypes in Patients Homozygous for the G1961E Mutation in theABCA4Gene

Investigative Opthalmology & Visual Science, 2013
David S M, Burton, Manir, Ali, Martin, McKibbin   +2 more
openaire   +2 more sources