Results 71 to 80 of about 6,473 (203)

A hybrid coloboma and optic disc pit associated with macular retinoschisis

BMC Ophthalmology, 2019
Background To report and describe an unusual case of a patient with optic disc pit in one eye and optic disc coloboma with a focal pit associated with macular retinoschisis in the other eye. Case presentation A 21-year-old woman presented with optic disc
Ricardo Yuji Abe, Camila Ishii Iguma, Lorena Campos Wen   +2 more
doaj   +1 more source

Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort

Clinical Genetics, Volume 108, Issue 5, Page 532-552, November 2025.
This study analyzes 94 IRD patients from a Turkish cohort using a 141‐gene NGS panel, achieving a 74% diagnostic yield. The identification of 28 novel variants highlights the genetic diversity of IRDs in Türkiye and underscores the value of population‐specific molecular testing.
Şenol Demir, Esra Arslan Ateş, Orkun Sevik, Bengisu Sözer, Tuğba Köse, Özlem Şahin, Ahmet Arman, Bilgen Bilge Geçkinli   +7 more
wiley   +1 more source

Retinoschisis and Norrie disease: a missing link

BMC Research Notes, 2021
Objective Retinoschisis and Norrie disease are X-linked recessive retinal disorders caused by mutations in RS1 and NDP genes respectively. Both are likely to be monogenic and no locus heterogeneity has been reported.
Rahini Rajendran, Dhandayuthapani Sudha, Subbulakshmi Chidambaram, Hemavathy Nagarajan, Umashankar Vetrivel, Jayamuruga Pandian Arunachalam   +5 more
doaj   +1 more source

Cellular Imaging Of The Tapetal-like Reflex In Carriers Of RPGR-associated Retinopathy [PDF]

, 2017
PURPOSE: To examine the features of the tapetal-like reflex (TLR) in female carriers of RPGR-associated retinopathy by means of adaptive optics scanning light ophthalmoscopy (AOSLO) and spectral domain optical coherence tomography.
Carroll, J, Dubra, A, Kalitzeos, A, Kasilian, M, Langlo, C, Michaelides, M, Samra, R, Strampe, M, Tee, JJL, Webster, AR   +9 more
core   +1 more source

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

Advanced 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, Wuhui He, Yun Xiao, Qiong Wu, Qing Zhang, Tiesong Zhang, Lei Xu, Xinyi Pang   +7 more
wiley   +1 more source

Adaptive optics imaging of inherited retinal diseases. [PDF]

, 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, Dubra, A, Georgiou, M, Kalitzeos, A, Michaelides, M, Patterson, EJ   +5 more
core   +1 more source

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

Acta 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, Peilun Dai, Jonathan Hensman, Peter Kiraly, Beau J. Fenner, Yong Liu, Rick S. M. Goh, Ian C. Han, Daniel S. W. Ting, Camiel J. F. Boon, M. Dominik Fischer   +10 more
wiley   +1 more source

Distinguishing features of microvascular abnormalities in high myopia retinoschisis via multimodal imaging

Photodiagnosis and Photodynamic Therapy
Purpose: To report the differences between microvascular abnormalities (MVAs) and retinal vasculitis in patients with high myopia (HM) and retinoschisis and discuss the efficacy of treatments, including corticosteroids, and posterior vitreous detachment (
Yunhan Tao, Xuhui Chen, Tao Li, Xian Zhang, Xufang Sun   +4 more
doaj   +1 more source

Deep learning model for detecting cystoid fluid collections on optical coherence tomography in X‐linked retinoschisis patients

Acta Ophthalmologica, Volume 103, Issue 6, Page 707-714, September 2025.
Abstract Purpose To validate a deep learning (DL) framework for detecting and quantifying cystoid fluid collections (CFC) on spectral‐domain optical coherence tomography (SD‐OCT) in X‐linked retinoschisis (XLRS) patients. Methods A no‐new‐U‐Net model was trained using 112 OCT volumes from the RETOUCH challenge (70 for training and 42 for internal ...
Jonathan Hensman, Yasmine el Allali, Hind Almushattat, Coen de Vente, Clara I. Sánchez, Camiel J. F. Boon   +5 more
wiley   +1 more source

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

, 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