Results 21 to 30 of about 431,670 (160)

Disturbed retinoid metabolism upon loss of rlbp1a impairs cone function and leads to subretinal lipid deposits and photoreceptor degeneration in the zebrafish retina

eLife, 2021
The RLBP1 gene encodes the 36 kDa cellular retinaldehyde-binding protein, CRALBP, a soluble retinoid carrier, in the visual cycle of the eyes. Mutations in RLBP1 are associated with recessively inherited clinical phenotypes, including Bothnia dystrophy ...
Domino K Schlegel, Srinivasagan Ramkumar, Johannes von Lintig, Stephan CF Neuhauss   +3 more
doaj   +1 more source

Clinical disorders affecting mesopic vision [PDF]

, 2006
Vision in the mesopic range is affected by a number of inherited and acquired clinical disorders. We review these conditions and summarize the historical background, describing the clinical characteristics alongside the genetic basis and molecular ...
Gordon T. Plant, Plant, GT, Petzold, A, Axel Petzold   +3 more
core   +1 more source

Unique Case of Bilateral Exudative Retinal Detachment following Creatine Supplementation in a Patient with Autosomal Dominant Bestrophinopathy

Case Reports in Ophthalmology, 2019
We report a case of bilateral serous retinal detachment in a patient with rod-cone dystrophy caused by mutation of BEST1. This followed creatine monohydrate use as a dietary supplement.
Konstantinos Kopsidas, Hedayat Javidi, Simon P. Kelly, Tariq Aslam, Graeme Black, Sajjad Mahmood   +5 more
doaj   +1 more source

Mutations in CNNM4 Cause Recessive Cone-Rod Dystrophy with Amelogenesis Imperfecta [PDF]

, 2009
Cone-rod dystrophies are inherited dystrophies of the retina characterized by the accumulation of deposits mainly localized to the cone-rich macular region of the eye. Dystrophy can be limited to the retina or be part of a syndrome.
Chouery, Eliane, Thilo, Bernard, Munier, Francis L, Nan, Francis, Munier, F.L., Ambresin, Aude, Ambresin, A., Nan, F., Mégarbané, André, Escher, Pascal, Polok, Bozena, Schorderet, D.F., Polok, B., Thilo, B., Mégarbané, A., Hamel, C., Escher, P., Meunier, Isabelle, Bolay, S., Hamel, Christian, Meunier, I., Schorderet, Daniel F., Munier, Francis L., Bolay, Sylvain, Schorderet, Daniel F, Escber, Pascal, Chouery, E.   +26 more
core   +2 more sources

A mouse model of cone photoreceptor function loss (cpfl9) with degeneration due to a mutation in Gucy2e

Frontiers in Molecular Neuroscience, 2023
During routine screening of mouse strains and stocks by the Eye Mutant Resource at The Jackson Laboratory for genetic mouse models of human ocular disorders, we identified cpfl9, a mouse model with cone photoreceptor function loss.
Anna S. E. N. Naggert, Gayle B. Collin, Jieping Wang, Mark P. Krebs, Bo Chang   +4 more
doaj   +1 more source

Low‐contrast visual acuity versus low‐luminance visual acuity in choroideremia

Clinical and Experimental Optometry, EarlyView., 2020
Clinical relevance Choroideremia is a progressive X‐linked inherited rod‐cone dystrophy. Patients present with nyctalopia and progressive visual field loss, but visual acuity remains well preserved early on. This study showed that low‐luminance visual acuity may be a useful clinical outcome measure during earlier disease stages.
Laura J Wood, Jasleen K Jolly, Colm D Andrews, Iain R Wilson, Doron Hickey, Jasmina Cehajic‐Kapetanovic, Robert E MacLaren   +6 more
wiley   +1 more source

Retinal cone photoreceptors of the deer mouse Peromyscus maniculatus : development, topography, opsin expression and spectral tuning [PDF]

, 2013
A quantitative analysis of photoreceptor properties was performed in the retina of the nocturnal deer mouse, Peromyscus maniculatus, using pigmented (wildtype) and albino animals.
Glösmann Martin, Martin Glösmann, Arbogast, Patrick, Leo Peichl, Arbogast Patrick, Peichl Leo, Peichl, Leo, Glösmann, Martin, Patrick Arbogast   +8 more
core   +2 more sources

Molecular characterization of MAP9 in the photoreceptor sensory cilia as a modifier in canine RPGRIP1-associated cone-rod dystrophy

Frontiers in Cellular Neuroscience, 2023
Photoreceptors possess a highly specialized primary cilium containing expanded ciliary membrane discs called the outer segment. The photoreceptor cilium is essential for the maintenance of the outer segment, and pathogenic variants in more than 50 cilia ...
Kei Takahashi, Jennifer C. Kwok, Yu Sato, Gustavo D. Aguirre, Keiko Miyadera   +4 more
doaj   +1 more source

Chromosome 19q cone-rod retinal dystrophy. Ocular phenotype

, 2022
OBJECTIVE: To describe the phenotype in a family with dominantly inherited cone-rod dystrophy with chromosome assignment to a 19q locus, and to correlate this with current classifications of this retinal dystrophy.
Arden, Geoffrey B., Evans, Kevin, Fitzke, Fred W., Bird, Alan C., Duvall-Young, Josephine, Bhattacharya, Shom Shanker   +5 more
core   +1 more source

Managing visual symptoms in cone-rod dystrophy with prosthetic soft contact lens: A case report

Indian Journal of Ophthalmology. Case Reports, 2023
This case demonstrates the utilization of a prosthetic type C contact lens to manage visual symptoms such as photophobia and glare in patients with cone-rod dystrophy.
Manju Balakrishnan, Asif Iqbal
doaj   +1 more source