Results 61 to 70 of about 10,317 (215)

Identifying mutations in Tunisian families with retinal dystrophy. [PDF]

, 2016
Retinal dystrophies (RD) are a rare genetic disorder with high genetic heterogeneity. This study aimed at identifying disease-causing variants in fifteen consanguineous Tunisian families. Full ophthalmic examination was performed.
Allaman-Pillet, N., Chebil, A., El Matri, L., Falfoul, Y., Habibi, I., Kort, F., Schorderet, D.F.   +6 more
core   +3 more sources

PERIPAPILLARY ATROPHY IN STARGARDT DISEASE [PDF]

Retina, 2009
To demonstrate that Stargardt disease (STGD) can present with peripapillary atrophy.Retrospective case series. The medical records of 150 consecutive patients (300 eyes) were reviewed retrospectively from a STGD database from January 1999 to May 2007 at Columbia University's Harkness Eye Institute. STGD patients demonstrating peripapillary atrophy were
John C, Hwang, Jana, Zernant, Rando, Allikmets, Gaetano R, Barile, Stanley, Chang, R Theodore, Smith   +5 more
openaire   +2 more sources

Organoids for Metabolic Disease Modeling

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic diseases (IMDs) are a diverse group of rare genetic disorders that disrupt metabolic pathways, leading to severe clinical manifestations. Disease models ranging from complex animal models to simple in vitro systems have provided insights into IMDs, but each has limitations.
Arif Ibrahim Ardisasmita, Edward Eelco Salomon Nieuwenhuis, Sabine Annemijn Fuchs   +2 more
wiley   +1 more source

Vitamin A Transport Mechanism of the Multitransmembrane Cell-Surface Receptor STRA6. [PDF]

, 2015
Vitamin A has biological functions as diverse as sensing light for vision, regulating stem cell differentiation, maintaining epithelial integrity, promoting immune competency, regulating learning and memory, and acting as a key developmental morphogen ...
Kassai, Miki, Kawaguchi, Riki, Sun, Hui, Ter-Stepanian, Mariam, Zhong, Ming   +4 more
core   +2 more sources

Bioptic driving: Historical milestones, current landscape, and future directions

Optometry and Vision Science, Volume 103, Issue 3, March 2026.
ABSTRACT A bioptic telescope is a small telescope mounted in the upper portion of a pair of eyeglasses that, when used for driving, allows a driver with central vision loss to briefly spot through the telescope to gain a magnified view of the roadway scene ahead.
Rebecca A. Deffler, Thomas W. Raasch, Bradley E. Dougherty   +2 more
wiley   +1 more source

The role of multimodal imaging and vision function testing in -related retinopathies and their relevance to future therapeutic interventions

Therapeutic Advances in Ophthalmology, 2021
The aim of this review article is to describe the specific features of Stargardt disease and ABCA4 retinopathies (ABCA4R) using multimodal imaging and functional testing and to highlight their relevance to potential therapeutic interventions ...
Saoud Al-Khuzaei, Mital Shah, Charlotte R. Foster, Jing Yu, Suzanne Broadgate, Stephanie Halford, Susan M. Downes   +6 more
doaj   +1 more source

Histoire d'une famille de deux générations atteinte par la forme dominante de la maladie de Stargardt, due à une mutation sur le gène ELOVL4 : Case report [PDF]

, 2015
Un patient de 22 ans et les membres de sa famille se soumettent à un examen ophtalmique complet, comprenant un examen du fond d'oeil, une autofluorescence, une tomographie à cohérence optique (OCT), un champ visuel et un électrorétinogramme (ERG).
MORET, E.
core  

Ordered subset linkage analysis supports a susceptibility locus for age-related macular degeneration on chromosome 16p12 [PDF]

, 2004
Background Age-related macular degeneration (AMD) is a complex disorder that is responsible for the majority of central vision loss in older adults living in developed countries. Phenotypic and genetic heterogeneity complicate the analysis of genome-wide
Agarwal Anita, De La Paz Monica A, Gilbert John R, Gorin Michael B, Haines Jonathan L, Hauser Elizabeth R, Pericak-Vance Margaret A, Postel Eric A, Schmidt Silke, Scott William K, Weeks Daniel E   +10 more
core   +3 more sources

Case series: The value of fundus autofluorescence in inherited macular disease

Optometry and Vision Science, Volume 103, Issue 3, March 2026.
ABSTRACT Purpose To evaluate the diagnostic utility of fundus autofluorescence (FAF) imaging in identifying and characterizing phenotypically classified inherited macular dystrophies. In this way, we aim to provide methods by which eye care practitioners can link FAF imaging and other clinical results or imaging modalities to aid their clinical ...
Marina Guro, Henrietta Wang, Jack Phu, Nimesh B. Patel, Kaitlyn A. Sapoznik, Hamza Shah, Michael Kalloniatis   +6 more
wiley   +1 more source

Visual rehabilitation using video game stimulation for Stargardt disease

Therapeutic Advances in Ophthalmology, 2019
Background: Stargardt disease, a common form of heredomacular degeneration, leads to severe vision loss. Video game play can act as a positive biofeedback to reinforce visual rehabilitation and fixation training.
Dhanashree Ratra, Archayeeta Rakshit, Vineet Ratra   +2 more
doaj   +1 more source