Causes and consequences of inherited cone disorders
S Roosing, AAHJ Thiadens, CB Hoyng… - Progress in retinal and …, 2014 - Elsevier
Hereditary cone disorders (CDs) are characterized by defects of the cone photoreceptors or
retinal pigment epithelium underlying the macula, and include achromatopsia (ACHM), cone …
retinal pigment epithelium underlying the macula, and include achromatopsia (ACHM), cone …
Voltage-and calcium-gated ion channels of neurons in the vertebrate retina
In this review, we summarize studies investigating the types and distribution of voltage-and
calcium-gated ion channels in the different classes of retinal neurons: rods, cones …
calcium-gated ion channels in the different classes of retinal neurons: rods, cones …
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders
AAHJ Thiadens, AI den Hollander, S Roosing… - The American journal of …, 2009 - cell.com
Cone photoreceptor disorders form a clinical spectrum of diseases that include progressive
cone dystrophy (CD) and complete and incomplete achromatopsia (ACHM). The underlying …
cone dystrophy (CD) and complete and incomplete achromatopsia (ACHM). The underlying …
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia
S Kohl, F Coppieters, F Meire, S Schaich… - The American Journal of …, 2012 - cell.com
Achromatopsia (ACHM) is an autosomal-recessive retinal dystrophy characterized by color
blindness, photophobia, nystagmus, and severely reduced visual acuity. Its prevalence has …
blindness, photophobia, nystagmus, and severely reduced visual acuity. Its prevalence has …
Adult human Müller glia cells are a highly efficient source of rod photoreceptors
SG Giannelli, GC Demontis, G Pertile, P Rama… - Stem …, 2011 - academic.oup.com
There is growing evidence that Müller glia cells (MGCs) might act as regenerative elements
in injured retinas of fishes and amniotes. However, their differentiation potential in humans is …
in injured retinas of fishes and amniotes. However, their differentiation potential in humans is …
[HTML][HTML] Insight into the molecular genetics of myopia
J Li, Q Zhang - Molecular vision, 2017 - ncbi.nlm.nih.gov
Myopia is the most common cause of visual impairment worldwide. Genetic and
environmental factors contribute to the development of myopia. Studies on the molecular …
environmental factors contribute to the development of myopia. Studies on the molecular …
Clinical course, genetic etiology, and visual outcome in cone and cone–rod dystrophy
AAHJ Thiadens, TML Phan, RC Zekveld-Vroon… - Ophthalmology, 2012 - Elsevier
OBJECTIVE: To evaluate the clinical course, genetic etiology, and visual prognosis in
patients with cone dystrophy (CD) and cone–rod dystrophy (CRD). DESIGN: Clinic-based …
patients with cone dystrophy (CD) and cone–rod dystrophy (CRD). DESIGN: Clinic-based …
Homeostatic plasticity in the retina
MJ Fitzpatrick, D Kerschensteiner - Progress in Retinal and Eye Research, 2023 - Elsevier
Vision begins in the retina, whose intricate neural circuits extract salient features of the
environment from the light entering our eyes. Neurodegenerative diseases of the retina (eg …
environment from the light entering our eyes. Neurodegenerative diseases of the retina (eg …
Current status of clinical trials design and outcomes in retinal gene therapy
B Rosin, E Banin, JA Sahel - Cold Spring …, 2024 - perspectivesinmedicine.cshlp.org
With the rapid expansion of methods encompassed by the term gene therapy, new trials
exploring the safety and efficacy of these methods are initiated more frequently. As a result …
exploring the safety and efficacy of these methods are initiated more frequently. As a result …
[HTML][HTML] RP1L1 and inherited photoreceptor disease: A review
NCL Noel, IM MacDonald - Survey of Ophthalmology, 2020 - Elsevier
Abstract Retinitis pigmentosa 1–like 1 (RP1L1) is a component of the photoreceptor cilium.
Pathogenic variants in RP1L1 lead to photoreceptor disease, suggesting an important role …
Pathogenic variants in RP1L1 lead to photoreceptor disease, suggesting an important role …