Functional architecture of the retina: development and disease

M Hoon, H Okawa, L Della Santina… - Progress in retinal and eye …, 2014 - Elsevier
Abstract Structure and function are highly correlated in the vertebrate retina, a sensory tissue
that is organized into cell layers with microcircuits working in parallel and together to encode …

Biology and therapy of inherited retinal degenerative disease: insights from mouse models

S Veleri, CH Lazar, B Chang… - Disease models & …, 2015 - journals.biologists.com
Retinal neurodegeneration associated with the dysfunction or death of photoreceptors is a
major cause of incurable vision loss. Tremendous progress has been made over the last two …

[HTML][HTML] X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms

RS Molday, U Kellner, BHF Weber - Progress in retinal and eye research, 2012 - Elsevier
X-linked juvenile retinoschisis (XLRS, MIM 312700) is a common early onset macular
degeneration in males characterized by mild to severe loss in visual acuity, splitting of retinal …

A comprehensive review of retinal gene therapy

SE Boye, SL Boye, AS Lewin, WW Hauswirth - Molecular therapy, 2013 - cell.com
Blindness, although not life threatening, is a debilitating disorder for which few, if any
treatments exist. Ocular gene therapies have the potential to profoundly improve the quality …

Gene therapy for visual loss: Opportunities and concerns

JH Lee, JH Wang, J Chen, F Li, TL Edwards… - Progress in retinal and …, 2019 - Elsevier
Many clinical trials using gene therapy have shown significant therapeutic benefits and
exceptional safety records. Increasing evidence is verifying the long sought-after promise …

Intravitreal delivery of AAV8 retinoschisin results in cell type-specific gene expression and retinal rescue in the Rs1-KO mouse

TK Park, Z Wu, S Kjellstrom, Y Zeng, RA Bush… - Gene therapy, 2009 - nature.com
X-linked juvenile retinoschisis (XLRS) is a neurodevelopmental abnormality caused by
retinoschisin gene mutations. XLRS is characterized by splitting through the retinal layers …

Synaptic pathology and therapeutic repair in adult retinoschisis mouse by AAV-RS1 transfer

J Ou, C Vijayasarathy, L Ziccardi… - The Journal of …, 2015 - Am Soc Clin Investig
Strategies aimed at invoking synaptic plasticity have therapeutic potential for several
neurological conditions. The human retinal synaptic disease X-linked retinoschisis (XLRS) is …

Advances in understanding the molecular structure of retinoschisin while questions remain of biological function

JB Heymann, C Vijayasarathy, RN Fariss… - Progress in Retinal and …, 2023 - Elsevier
Retinoschisin (RS1) is a secreted protein that is essential for maintaining integrity of the
retina. Numerous mutations in RS1 cause X-linked retinoschisis (XLRS), a progressive …

Gene and cell‐based therapies for inherited retinal disorders: An update

JD Sengillo, S Justus, YT Tsai… - American Journal of …, 2016 - Wiley Online Library
Retinal degenerations present a unique challenge as disease progression is irreversible
and the retina has little regenerative potential. No current treatments for inherited retinal …

Retinoschisin gene therapy in photoreceptors, Müller glia or all retinal cells in the Rs1h−/− mouse

LC Byrne, BE Öztürk, T Lee, C Fortuny, M Visel… - Gene therapy, 2014 - nature.com
X-linked retinoschisis, a disease characterized by splitting of the retina, is caused by
mutations in the retinoschisin gene, which encodes a putative secreted cell adhesion …