IMI risk factors for myopia

IG Morgan, PC Wu, LA Ostrin… - … & visual science, 2021 - iovs.arvojournals.org
Risk factor analysis provides an important basis for develo** interventions for any
condition. In the case of myopia, evidence for a large number of risk factors has been …

Control of myopia using diffusion optics spectacle lenses: 12-month results of a randomised controlled, efficacy and safety study (CYPRESS)

J Rappon, C Chung, G Young, C Hunt… - British Journal of …, 2023 - bjo.bmj.com
Background Mutations in the L/M cone opsin gene array cause abnormally high perceived
retinal contrast and the development of myopia. Environmental factors may also lead to high …

[HTML][HTML] Intermixing the OPN1LW and OPN1MW Genes Disrupts the Exonic Splicing Code Causing an Array of Vision Disorders

M Neitz, J Neitz - Genes, 2021 - mdpi.com
Light absorption by photopigment molecules expressed in the photoreceptors in the retina is
the first step in seeing. Two types of photoreceptors in the human retina are responsible for …

Applications of genomics and transcriptomics in precision medicine for myopia control or prevention

L Jiang, DX Goh, JHZ Koh, X Chan, NA Brennan… - Biomolecules, 2023 - mdpi.com
Myopia is a globally emerging concern accompanied by multiple medical and socio-
economic burdens with no well-established causal treatment to control thus far. The study of …

Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA

L Haer-Wigman, A den Ouden… - NPJ Genomic …, 2022 - nature.com
Pathogenic variants in the OPN1LW/OPN1MW gene cluster are causal for a range of mild to
severe visual impairments with color deficiencies. The widely utilized short-read next …

Splicing mutations in inherited retinal diseases

N Weisschuh, E Buena-Atienza, B Wissinger - Progress in retinal and eye …, 2021 - Elsevier
Mutations which induce aberrant transcript splicing represent a distinct class of disease-
causing genetic variants in retinal disease genes. Such mutations may either weaken or …

[HTML][HTML] The association between L: M cone ratio, cone opsin genes and myopia susceptibility

LA Hagen, S Arnegard, JA Kuchenbecker, SJ Gilson… - Vision Research, 2019 - Elsevier
In syndromic forms of myopia caused by long (L) to middle (M) wavelength (L/M)
interchange mutations, erroneous contrast signals from ON-bipolar cells activated by cones …

ON and OFF receptive field processing in the presence of optical scattering

K Breher, A Neumann, D Kurth, F Schaeffel… - Biomedical Optics …, 2023 - opg.optica.org
The balance of ON/OFF pathway activation in the retina plays a role in emmetropization. A
new myopia control lens design uses contrast reduction to down-regulate a hypothesized …

Blue cone monochromacy and gene therapy

ER Sechrest, K Chmelik, WD Tan, WT Deng - Vision research, 2023 - Elsevier
Blue cone monochromacy (BCM) is a congenital vision disorder characterized by complete
loss or severely reduced long-and middle-wavelength cone function, caused by mutations in …

Molecular Mechanisms Governing Sight Loss in Inherited Cone Disorders

C Brotherton, R Megaw - Genes, 2024 - mdpi.com
Inherited cone disorders (ICDs) are a heterogeneous sub-group of inherited retinal
disorders (IRDs), the leading cause of sight loss in children and working-age adults. ICDs …