[HTML][HTML] Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations

FPM Cremers, W Lee, RWJ Collin… - Progress in retinal and eye …, 2020 - Elsevier
The ABCA4 protein (then called a “rim protein”) was first identified in 1978 in the rims and
incisures of rod photoreceptors. The corresponding gene, ABCA4, was cloned in 1997, and …

Vision restoration after brain and retina damage: the “residual vision activation theory”

BA Sabel, P Henrich-Noack, A Fedorov, C Gall - Progress in brain research, 2011 - Elsevier
Vision loss after retinal or cerebral visual injury (CVI) was long considered to be irreversible.
However, there is considerable potential for vision restoration and recovery even in …

[HTML][HTML] Macular function in macular degenerations: repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials

AV Cideciyan, M Swider, TS Aleman… - … & visual science, 2012 - tvst.arvojournals.org
Purpose.: To measure macular visual function in patients with unstable fixation, to define the
photoreceptor source of this function, and to estimate its test-retest repeatability as a …

Allelic and phenotypic heterogeneity in ABCA4 mutations

TR Burke, SH Tsang - Ophthalmic genetics, 2011 - Taylor & Francis
Since the discovery of the ABCA4 gene as the cause of autosomal recessive Stargardt
disease/fundus flavimaculatus much has been written of the phenotypic variability in ABCA4 …

Retinoblastoma and vision

O Warda, Z Naeem, KA Roelofs, MS Sagoo, MA Reddy - Eye, 2023 - nature.com
The assessment of vision has a growing importance in the management of retinoblastoma in
the era of globe-conserving therapy, both prior to and after treatment. As survival rates …

Macular function and morphologic features in juvenile stargardt disease: longitudinal study

F Testa, P Melillo, V Di Iorio, A Orrico, M Attanasio… - Ophthalmology, 2014 - Elsevier
Purpose To evaluate disease progression in a cohort of patients with a clinical and genetic
diagnosis of Stargardt disease. Design Longitudinal cohort study. Participants A total of 56 …

Effectiveness of low vision rehabilitation using microperimetric acoustic biofeedback training in patients with central scotoma

E Sahli, D Altinbay, P Bingol Kiziltunc… - Current Eye …, 2021 - Taylor & Francis
Purpose To evaluate the efficacy of visual rehabilitation with microperimeter biofeedback in
patients with central scotoma. Materials and Methods 35 consecutive patients with central …

Low vision and plasticity: implications for rehabilitation

GE Legge, STL Chung - Annual review of vision science, 2016 - annualreviews.org
Low vision is any type of visual impairment that affects activities of daily living. In the context
of low vision, we define plasticity as changes in brain or perceptual behavior that follow the …

Fixation location and stability using the MP-1 microperimeter in Stargardt disease: ProgStar Report No. 3

EM Schönbach, MA Ibrahim, RW Strauss, DG Birch… - Ophthalmology …, 2017 - Elsevier
Purpose To determine fixation location and fixation stability in Stargardt disease (STGD1)
and their association with best-corrected visual acuity (BCVA). Design Cross-sectional …

Microstructural and microperimetric comparison of internal limiting membrane peeling and insertion in large idiopathic macular hole

L Liu, Z Wang, Y Yu, X Yang, B Qi, K Zhang, W Liu - BMC ophthalmology, 2023 - Springer
Background The internal limiting membrane (ILM) insertion technique was widely used to
treat large macular hole (MH) for the high closure rate. However, the prognosis of closed MH …