Results 41 to 50 of about 5,586 (206)
Cold Spring Harbor Perspectives in Medicine, 2023 X-linked retinoschisis (XLRS) is an inherited vitreoretinal dystrophy causing visual impairment in males starting at a young age with an estimated prevalence of 1:5000 to 1:25,000. The condition was first observed in two affected brothers by Josef Haas in 1898 and is clinically diagnosed by characteristic intraretinal cysts arranged in a petaloid ...
Ku, Cristy A. +2 more
openaire +2 more sources
Clinical manifestations of dual‐gene variants in retinitis pigmentosa
Acta Ophthalmologica, EarlyView.Abstract Purpose Retinitis pigmentosa (RP) is an inherited retinal disease (IRD), whereby each affected individual typically harbours pathogenic variants in a single causative gene, yet the disorder exhibits marked genetic heterogeneity, with more than 100 genes reported to underlie RP.
Lasse Wolfram +11 more
wiley +1 more source
Case report: Autosomal recessive bestrophinopathy with macular cysts and MNV over 13-year follow-up
Frontiers in Genetics, 2022 Purpose: To describe the phenotype and genotype of a patient with autosomal recessive bestrophinopathy (ARB) over a 13-year follow-up period.Methods: The phenotype of the subject was described after a complete ophthalmological examination, which included
Lei Zhang +5 more
doaj +1 more source
Autosomal juvenile retinoschisis without foveal retinoschisis. [PDF]
British Journal of Ophthalmology, 1989 We describe hereditary retinoschisis without foveal retinoschisis in a girl (the product of a consanguineous marriage) and her father. The father had peripheral retinoschisis with dendritic changes of the retina and good visual acuity. The daughter had peripheral retinoschisis complicated by vitreous haemorrhage and retinal detachment.
K, Yamaguchi, S, Hara
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Retinal Imaging in Perimacular Degenerative Retinoschisis
, 2014 Macula-threatening degenerative retinoschisis is a rare clinical problem. In the current report, imaging of three patients with asymptomatic and nonprogressive retinoschisis is presented.
Harry W. Flynn +3 more
core +1 more source
The oscillatory response of the electroretinogram and neuronal adaptation
Acta Ophthalmologica, Volume 104, Issue 6, Page 616-637, September 2026.Abstract After more than 50 years, there still remains a challenge and an interest to know more as well as extend and deepen our understanding of the small rapid wavelets, the oscillatory potentials (OPs), of the electroretinogram (ERG) and the neuronal adaptation of the retina.
Lillemor Wachtmeister, Anders Eklund
wiley +1 more source
American Journal of Ophthalmology Case Reports, 2020 Purpose: To report a carefully studied case of high voltage electrical injury of the retina and optic nerve with anatomically reversible retinoschisis. Methods: Observational case report.
Aleksey Mishulin +3 more
doaj +1 more source
X-linked Juvenile Retinoschisis in a Young Female
Journal of Nepal Health Research Council, 2022 X-linked juvenile retinoschisis has recessive inheritance which occurs due to RS1 gene mutation. We report an instance in a female managed with systemic and topical carbonic-anhydrase inhibitors.
Sudha Ranabhat +2 more
doaj +1 more source
Acta Ophthalmologica, Volume 104, Issue 6, Page e709-e717, September 2026.Abstract Purpose To explore whether threshold perimetry can predict fulfilment of the current Swedish and current Norwegian Esterman perimetry standards for Group 1 driver's licence, and differences in compliance between the former and current Swedish visual field standards.
Wid Saadi, Tomas Bro, Susanna Sagerfors
wiley +1 more source
Retinal layers (A) and circular extent (B) involved in retinoschisis.
, 2014 (A) Involvement of only the RNFL was most frequent (13 retinoschisis). The RNFL was involved together with other layers in 12 retinoschisis. RNFL = retinal nerve fiber layer, GCL = ganglion cell layer, IPL = inner plexiform layer, INL = inner nuclear ...
Eun Ji Lee (528748) +3 more
core +1 more source