Results 111 to 120 of about 189,868 (219)
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 +5 more
doaj +1 more source
Convergence of Human Genetics and Animal Studies: Gene Therapy for X-Linked Retinoschisis. [PDF]
, 2015 Retinoschisis is an X-linked recessive genetic disease that leads to vision loss in males. X-linked retinoschisis (XLRS) typically affects young males; however, progressive vision loss continues throughout life. Although discovered in 1898 by Haas in two
Bush, Ronald A +2 more
core +1 more source
Clinical Genetics, Volume 107, Issue 6, Page 600-611, June 2025.This study provides clinical practice guidelines to streamline genetic testing for inherited retinal dystrophies (IRDs), underscoring the critical role of molecular diagnosis in enhancing patient care. These recommendations aim to elevate diagnostic accuracy, guide therapeutic decisions, and ultimately improve patient outcomes, marking a significant ...
João Pedro Marques +6 more
wiley +1 more source
New symmetrical quinazoline derivatives selectively induce apoptosis in human cancer cells [PDF]
, 2006 In the search of new symmetrical derivatives with anticancer activity, we have looked for novel compounds able to induce a selective proapoptotic mechanism in cancer cells.
Bandres, E. (Eva) +8 more
core +1 more source
Acta Ophthalmologica, Volume 103, Issue 3, Page 313-326, May 2025.Abstract Purpose Understanding test–retest variability (TRV) of mesopic microperimetry is critical for defining meaningful treatment effects in retinitis pigmentosa (RP) trials. This study uniquely evaluates intra‐ and intervisit TRV and coefficients of repeatability (CoRs) for microperimetry parameters in RP patients with varying best‐corrected visual
Jessica S. Karuntu +3 more
wiley +1 more source
X-linked juvenile retinoschisis in a black South African: A case report
African Vision and Eye Health, 2019 X-linked juvenile retinoschisis (XLRS) has been well-documented in Finnish and other white populations. This case report illustrates a well-recognised condition in a rare population group.
Katherine Rafferty, Aubrey Makgotloe
doaj +1 more source
Protamine/DNA/Niosome Ternary Nonviral Vectors for Gene Delivery to the Retina: The Role of Protamine [PDF]
, 2015 The present study aimed to evaluate the incorporation of protamine into niosome/DNA vectors to analyze the potential application of this novel ternary formulation to deliver the pCMS-EGFP plasmid into the rat retina.
Agirre, Mireia +11 more
core +2 more sources
Acta Ophthalmologica, Volume 103, Issue 3, Page 327-338, May 2025.Abstract Purpose This study aimed to characterize clinical and genetic findings in a Swedish cohort with inherited retinal disease (IRD), identify predictors for achieving a molecular diagnosis and evaluate the effects of increased genetic testing over time.
Karl De Geer +4 more
wiley +1 more source
American Journal of Ophthalmology Case Reports, 2020 Purpose: We present a case of successful surgical management of an infant with X-linked retinoschisis with a giant retinal tear and retinal detachment of the right eye.
Homer Chiang +2 more
doaj +1 more source
The Association between Foveal Morphology and Macular Pigment Spatial Distribution: An Ethnicity Study [PDF]
, 2017 Purpose Macular pigment (MP) spatial distribution varies considerably among individuals. We investigated ethnic variations in MP spatial distribution in relation to foveal architecture.
Ctori, I., Huntjens, B.
core +3 more sources