Results 91 to 100 of about 8,320 (263)

Retinitis pigmentosa, retinoskiisi ja Usherin oireyhtymä : systemaattinen kirjallisuuskatsaus periytyvien verkkokalvorappeumien uusimmista hoitokäytännöistä [PDF]

open access: yes, 2017
Opinnäytetyön tarkoituksena on koota systemaattinen kirjallisuuskatsaus suomalaisessa väestössä esiintyvistä yleisimmistä perinnöllisistä verkkokalvorappeumista ja niiden viimeaikaisista hoitoihin liittyvistä tutkimuksista. Opinnäytetyö käsittelee kolmea
Ahokas, Aino, Haavisto, Annika
core  

Exploring AAV‐Mediated Gene Therapy for Inner Ear Diseases: from Preclinical Success to Clinical Potential

open access: yesAdvanced Science, Volume 12, Issue 33, September 4, 2025.
Current preclinical studies of AAV‐mediated gene therapy explore different strategies based on the characteristics of inner ear diseases. For genetic hearing loss, approaches include the replacement of a “good gene,” removal of a “bad gene,” or direct correction of mutations through base editing.
Fan Wu   +7 more
wiley   +1 more source

Adaptive optics imaging of inherited retinal diseases. [PDF]

open access: yes, 2017
Adaptive optics (AO) ophthalmoscopy allows for non-invasive retinal phenotyping on a microscopic scale, thereby helping to improve our understanding of retinal diseases.
Carroll, J   +5 more
core   +1 more source

Artificial intelligence‐quantified schisis volume as a structural endpoint for gene therapy clinical trials in X‐linked retinoschisis

open access: yesActa Ophthalmologica, Volume 103, Issue 6, Page 715-724, September 2025.
Abstract Purpose To use artificial intelligence (AI) for quantifying schisis volume (ASV) in X‐linked retinoschisis (XLRS) for use as a structural endpoint in gene therapy clinical trials. Methods We used data from Singapore, the United Kingdom, the Netherlands, and the United States. The AI model was developed on 250 optical coherence tomography (OCT)
Tien‐En Tan   +10 more
wiley   +1 more source

Expression Profiling Analysis Reveals Key MicroRNA– mRNA Interactions in Early Retinal Degeneration in Retinitis Pigmentosa [PDF]

open access: yes, 2018
PURPOSE. The aim of this study was to identify differentially expressed microRNAs (miRNAs) that might play an important role in the etiology of retinal degeneration in a genetic mouse model of retinitis pigmentosa (rd10 mice) at initial stages of the ...
Anasagasti, Ander   +7 more
core   +2 more sources

Identifying rhegmatogenous detachments in bullous retinoschisis with optical coherence tomography studies

open access: yesAmerican Journal of Ophthalmology Case Reports, 2017
Purpose: To demonstrate a novel technique for capturing optical coherence tomography images of peripheral retina and its application in identifying rhegmatogenous retinal detachments within bullous retinoschisis.
Josh O Wallsh, Ron P. Gallemore
doaj   +1 more source

Clinical course of focal choroidal excavation in Vogt-Koyanagi-Harada disease [PDF]

open access: yes, 2014
We describe focal choroidal excavation (FCE) in a case of Vogt–Koyanagi–Harada (VKH) disease and compare the findings with different chorioretinal conditions. A 55-year-old man was diagnosed with VKH based on panuveitis and exudative retinal detachments.
Akiyama, K   +5 more
core   +1 more source

Distinctive Mechanisms and Patterns of Exudative Versus Tractional Intraretinal Cystoid Spaces as Seen With Multimodal Imaging. [PDF]

open access: yes, 2020
PurposeTo determine clear-cut distinctions between tractional and exudative intraretinal cystoid spaces subtypes.DesignRetrospective, multicenter, observational case series.MethodsA cohort of patients diagnosed with intraretinal cystoid spaces and imaged
Au, Adrian   +9 more
core  

Clinical disorders affecting mesopic vision [PDF]

open access: yes, 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 ...
Abramowicz M.   +100 more
core   +1 more source

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