Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Martin Lindeman"'
Publikováno v:
Retina. 31:949-958
Purpose To correlate the degree of functional loss with structural changes in patients with Stargardt disease. Methods Eighteen eyes of 10 patients with Stargardt disease were studied. Scanning laser ophthalmoscope infrared images were compared with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::38b4c65afde26f4bb3446267ebf2ce6c
https://doi.org/10.1097/iae.0b013e3181f441f6
https://doi.org/10.1097/iae.0b013e3181f441f6
Publikováno v:
Retina. 30:1726-1733
Purpose: The purpose of this study was to identify the functional and structural characteristics in three female obligate carriers of X-linked retinitis pigmentosa from the same family by using spectral domain optical coherence tomography, fundus aut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8d638dde86848c56442310512a32d06
https://doi.org/10.1097/iae.0b013e3181dde629
https://doi.org/10.1097/iae.0b013e3181dde629
Publikováno v:
Ophthalmic Genetics. 31:66-72
Purpose: Fundus albipunctatus is a form of congenital stationary night blindness characterized by an early onset and nonprogressive impairment of night vision and the presence of numerous dull-white punctate lesions scattered throughout the fundus, w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f079109a366eb3dd175abf3481a818a3
https://doi.org/10.3109/13816810903584971
https://doi.org/10.3109/13816810903584971
Publikováno v:
Documenta Ophthalmologica. 119:229-233
To report a successfully treated case of acquired night blindness associated with fundus white spots secondary to vitamin A deficiency. An ocular examination, electrophysiologic testing, as well as visual field and OCT examinations were obtained on a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7d7e4525cae19f190a764ae56a09a08
https://doi.org/10.1007/s10633-009-9200-y
https://doi.org/10.1007/s10633-009-9200-y
Autor:
Martin Lindeman, Edwin M. Stone, Robert K. Koenekoop, Sirichai Pasadhika, Irma Lopez, Mahnaz Shahidi, Ruth Zelkha, Gerald A. Fishman
Leber congenital amaurosis (LCA) is clinically described as a group of early-onset photoreceptor cell degenerations. It is usually inherited in an autosomal recessive fashion and characterized by severe impairment of visual function and nystagmus ear
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed058af669973a381748150bea5c9f14
https://europepmc.org/articles/PMC2868490/
https://europepmc.org/articles/PMC2868490/
Publikováno v:
Documenta ophthalmologica. Advances in ophthalmology. 118(3)
We report a case of an 11-year old Caucasian female with nyctalopia since early childhood with an atypical clinical presentation of fundus albipunctatus (FA), and a novel mutation in the RDH5 gene. In addition to white spots in the fundus, patchy are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dc15ce893e6944f885054f367791581
https://pubmed.ncbi.nlm.nih.gov/18949499
https://pubmed.ncbi.nlm.nih.gov/18949499
Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene
Autor:
Mohammad Othman, Kari Branham, Saloni Walia, Martin Lindeman, Richard G. Weleber, Gerald A. Fishman, Anand Swaroop
Publikováno v:
Archives of ophthalmology (Chicago, Ill. : 1960). 126(3)
Objective: To report discordant phenotypes, resulting from the same mutation in exon ORF15 (GenBank AF286472) of the retinitis pigmentosa GTPase regulator gene (RPGR) (GenBank U57629), in 2 presumed dizygotic twin brothers with X-linked retinal disea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc39c37c69601c48b5d131a5cce2b076
https://pubmed.ncbi.nlm.nih.gov/18332319
https://pubmed.ncbi.nlm.nih.gov/18332319
Autor:
Gerald A. Fishman, Martin Lindeman, Edwin M. Stone, David A. Eliason, Deborah J. Derlacki, Chris M. Taylor
Publikováno v:
Archives of Ophthalmology. 121:851
Objective To identify sequence variations in theABCA4gene in a cohort of patients with autosomal recessive cone-rod dystrophy. Methods The coding sequences of theABCA4gene were analyzed in 30 unrelated probands. In those patients with plausible disea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f643826f7ba91311ea62d5ee45b38999
https://doi.org/10.1001/archopht.121.6.851
https://doi.org/10.1001/archopht.121.6.851
Publikováno v:
Documenta Ophthalmologica; Dec2009, Vol. 119 Issue 3, p229-233, 5p
Publikováno v:
Documenta Ophthalmologica; Jun2009, Vol. 118 Issue 3, p233-238, 6p