Results 171 to 180 of about 5,408 (199)

ULTRAWIDEFIELD AUTOFLUORESENCE IN ABCA4 STARGARDT DISEASE

Retina, 2018
Purpose: To report the ultrawidefield fundus autofluorescence (UWF-FAF) patterns in ABC4A Stargardt disease. Methods: A retrospective cohort study of patients with a clinical diagnosis of Stargardt disease, confirmed ABCA4 genotype, and ultrawidefield fundus autofluorescence imaging
Michael A, Klufas, Irena, Tsui, SriniVas R, Sadda, Hamid, Hosseini, Steven D, Schwartz   +4 more
openaire   +2 more sources

Genotype–Phenotype Association in ABCA4-Associated Retinopathy

2023
Stargardt disease (STGD1) is the most common inherited retina degeneration. It is caused by biallelic ABCA4 variants, and no treatment is available to date. STGD1 shows marked phenotypic variability, especially regarding the age of onset. The underlying genotype can partially explain this variability.
Maximilian, Pfau, Wadih M, Zein, Laryssa A, Huryn, Catherine A, Cukras, Brett G, Jeffrey, Robert B, Hufnagel, Brian P, Brooks   +6 more
openaire   +2 more sources

Cycloplegic refractions in a cohort with ABCA4-related retinopathy

Ophthalmic Genetics, 2020
To the Editor:ABCA4 (ATP-binding cassette, subfamily A, member 4) encodes a protein localized to photoreceptor outer segment disk margins that transports vitamin A derivatives necessary for the vis...
Eman M, Al-Sharif, Arif O, Khan
openaire   +2 more sources

Stargardt/ABCA4 disease in African Americans

2023
Disease-associated variation in the ABCA4 gene has emerged as the most prevalent cause of Mendelian retinal disease affecting an estimated 50,000 people in the United States. The extensive clinical heterogeneity of ABCA4-associated retinopathy, in short ABCA4-RD, which includes >40 clinical phenotypes entities (most often called Stargardt disease ...
openaire   +1 more source

Age matters?thoughts on a grading system for ABCA4 mutations

Graefe's Archive for Clinical and Experimental Ophthalmology, 2004
The current issue presents a paper in which Klevering et al. see DOI 10.1007/s00417-004-1079-4 report on further cases to support a grading system of ABCA4 mutations previously suggested by the same group [12]. This grading system judges ABCA4 mutations as mild, moderate, or severe with a spectrum of phenotypes ranging from age-related macular ...
Birgit, Lorenz, Markus N, Preising
openaire   +2 more sources

Clinical polymorphism of splice site mutations in the ABCA4 gene

Vestnik oftal'mologii, 2018
ABCA4 is one of the main genes whose mutations are associated with various inherited retinal diseases (IRD) such as Stargardt disease, cone dystrophy, cone-rod dystrophy, and retinitis pigmentosa. The severity of retinal dystrophy phenotype may be related to the degree of mutation pathogenicity, which depends on the localization in various regulatory ...
N L, Sheremet, I G, Grushke, N V, Zhorzholadze, I A, Ronzina, A A, Mikaelyan, A S, Tanas, V V, Strelnikov   +6 more
openaire   +2 more sources

Pharmakotherapie von ABCA4-assoziierten Netzhautdystrophien

Klinische Monatsblätter für Augenheilkunde
Zusammenfassung ABCA4-assoziierte Netzhautdystrophien, einschließlich des von Stargardt erstmals beschriebenen Morbus Stargardt umfassen eine heterogene Gruppe erblicher Netzhauterkrankungen, die durch Mutationen im ABCA4-Gen verursacht werden und rezessiv vererbt werden.
Maximilian Gerhardt, Katarina Stingl, Milda Reith   +2 more
openaire   +1 more source

Stargardt Disease: Gene Therapy Strategies for ABCA4

International Ophthalmology Clinics, 2021
Cristy A, Ku, Paul, Yang
openaire   +2 more sources

ABCA4

2018
Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively, Thiran Jayasundera   +6 more
openaire   +1 more source

Structure and function of ABCA4 and its role in the visual cycle and Stargardt macular degeneration

Progress in Retinal and Eye Research, 2022
Robert S Molday, Jessica Fernandes Scortecci, Fabian A Garces   +2 more
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