Results 71 to 80 of about 4,867,114 (192)

CHOROIDAL THICKNESS IN PATIENTS WITH STARGARDT DISEASE

, 2018
Purpose: To investigate the relationship between choroidal thicknesses (CT), central foveal thicknesses, multifocal electroretinography (mf-ERG) responses, and best-corrected visual acuity levels in patients with Stargardt disease (STGD)
Seckin Aykas, Esra Vural, Erdurmus, Mesut, Vural, Esra, Sevinc, Mehmet K., Aykas, Seckin, Gungor Sobaci, SOBACI, GÜNGÖR, Mesut Erdurmus, Mehmet K. Sevinc, ACAR, UĞUR, Ugur Acar, KÜÇÜK, BEKİR, Bekir Kucuk   +13 more
core   +1 more source

Colour Vision in Stargardt Disease

Ophthalmic Research, 2015
<b><i>Purpose:</i></b> To investigate the type and severity of acquired colour vision deficiencies (CVDs) in molecularly proven Stargardt disease (STD) and to establish whether a relationship exists between best-corrected visual acuity (BCVA) and full-field electroretinography (ffERG), and the degree of CVD.
Tine Vandenbroucke, Ronald Buyl, Julie De Zaeytijd, Miriam Bauwens, André Uvijls, Elfride De Baere, Bart P. Leroy   +6 more
openaire   +3 more sources

Identification and functional validation of a novel disease‐causing variant in the noncoding region of NYX

Acta Ophthalmologica, Volume 104, Issue 5, Page e555-e564, August 2026.
Abstract Purpose Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia.
Filip Spanic, Christelle Michiels, Julien Navarro, Aline Antonio, Christel Condroyer, Camille Andrieu, Billy Gipsy, Sylvie Berthémy‐Pellet, Mathilde Gallice, Isabelle Audo, Christina Zeitz   +10 more
wiley   +1 more source

Advances in Imaging of Stargardt Disease [PDF]

, 2009
Stargardt disease (STGD1) is an autosomal-recessively inherited condition often associated with mutations in ABCA4 and characterized by accumulation of autofluorescent lipofuscin deposits in the retinal pigment epithelium (RPE). Non-invasive imaging techniques including fundus autofluorescence (FAF), spectral domain optical coherence tomography (SD-OCT)
Y, Chen, A, Roorda, J L, Duncan
openaire   +2 more sources

ABCA4-Associated Stargardt Disease

Klinische Monatsblätter für Augenheilkunde, 2020
AbstractAutosomal recessive Stargardt disease (STGD1) is associated with variants in the ABCA4 gene. The phenotypes range from early-onset STGD1, that clinically resembles severe cone-rod dystrophy, to intermediate STGD1 and late-onset STGD1. These different phenotypes can be correlated with different combinations of ABCA4 variants which can be ...
Khan, M., Cremers, F.
openaire   +4 more sources

The relevance of genetic counseling in various forms of hereditary retinal dystrophies

Офтальмохирургия, 2016
Purpose. Retrospective genetic counseling analysis of patients with hereditary retinal diseases.Material and methods. The study is based on an analysis of genetic counseling and molecular genetic studies of DNA samples of 82 patients: Stargardt disease ...
B. E. Malyugin, S. A. Borzenok, O. V. Khlebnikova, M. F. Shurygina, P. M. Arbukhanova, A. N. Loginova, P. L. Volodin, S. A. Zubareva   +7 more
doaj   +1 more source

Inferred retinal sensitivity in recessive Stargardt disease using machine learning

Scientific Reports, 2021
Spatially-resolved retinal function can be measured by psychophysical testing like fundus-controlled perimetry (FCP or ‘microperimetry’). It may serve as a performance outcome measure in emerging interventional clinical trials for macular diseases as ...
Philipp L. Müller, Alexandru Odainic, Tim Treis, Philipp Herrmann, Adnan Tufail, Frank G. Holz, Maximilian Pfau   +6 more
doaj   +1 more source

ABCA4‐Associated Retinal Degeneration in 8 Families From the Three Provinces of Northeast China: Identification and Characterization of Potentially Novel Variants

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
This study reports the documented case of ABCA4‐associated early‐onset severe retinal dystrophy in China, broadens the mutational spectrum of ABCA4 in this population, and highlights distinct genotype–phenotype correlations that may inform clinical management and genetic counseling.
Nian Li, Linlin Su, Yue Ren, Ye Liu, Jiayuan Ge, Henan Sun, Zhuoshi Wang   +6 more
wiley   +1 more source

Stargadt’s disease in two Nigerian siblings

International Medical Case Reports Journal, 2013
Tunji S Oluleye, Akinsola Sunday Aina, Tarela Frederick Sarimiye, Segun Isaac Olaniyan Retinal and Vitreous Unit, University College Hospital, Ibadan, Nigeria Abstract: Stargardt’s disease is an inherited macular dystrophy that is transmitted in an
Oluleye TS, Aina AS, Sarimiye TF, Olaniyan SI   +3 more
doaj  

Unveiling the Power of Deuterium in Drug Discovery: A Comprehensive Overview

MedComm, Volume 7, Issue 6, June 2026.
The role of deuterium replacement in drug discovery, its progress, opportunities, and challenges. ABSTRACT Deuterium, the heavy isotope of hydrogen, has unfolded as a cornerstone in modern drug discovery due to its potential to influence metabolic stability and pharmacokinetic behavior.
Mukta Lele, Ajit Manchare, Swapnali Parit, Amol D. Gholap, Krishna Jadhav, Navnath Hatvate, Keshav Raj Paudel, Satish Rojekar   +7 more
wiley   +1 more source