Results 91 to 100 of about 15,997 (234)

Tapetal-like sheen as a key phenotypical feature in TTLL5-associated cone dystrophy caused by a novel variant

American Journal of Ophthalmology Case Reports
Purpose: To report a patient with cone dystrophy and a striking tapetal reflex caused by a novel variant in TTLL5, which was initially missed by a local retinal specialist due to inaccurate phenotyping of macular dystrophy.
Yi Zhai, Rita Kodida, Brian G. Ballios
doaj   +1 more source

Ocular hypertension in myopia: analysis of contrast sensitivity [PDF]

, 2018
Purpose: we evaluated the evolution of contrast sensitivity reduction in patients affected by ocular hypertension and glaucoma, with low to moderate myopia.
Arrico, L, Bianchini, D, Migliorini, R, Nebbioso, M., Quercia, A   +4 more
core   +1 more source

Representation, medical examination, and the effectiveness of underwriting: Evidence from a life and health insurance company

Risk Management and Insurance Review, EarlyView.
Abstract This study examines whether underwriting methods—representation, medical examination, extra premiums, and coverage—effectively mitigate adverse selection using data from an insurance company. Regarding representation, we focus on statements disclosing pre‐existing medical conditions.
Chia‐Ling Ho, Gene Lai, Chen‐Hsu Liao, Zifen Zeng   +3 more
wiley   +1 more source

Giant Cyst of Dermis-Fat Graft in a Child with MRSA—Case Report

Children
Background/Objectives: This case report presents a unique case of multiple postoperative complications, including sterile silicone implant extrusion, symblepharon formation, and the development of a giant cyst, following extensive multimodal chemotherapy
Biljana Kuzmanović Elabjer, Mirjana Bjeloš, Ana Ćurić, Daliborka Miletić, Mladen Bušić   +4 more
doaj   +1 more source

A nonhuman primate model of inherited retinal disease. [PDF]

, 2019
Inherited retinal degenerations are a common cause of untreatable blindness worldwide, with retinitis pigmentosa and cone dystrophy affecting approximately 1 in 3500 and 1 in 10,000 individuals, respectively.
Artemyev, Nikolai O, Boyd, Kimberly, Cameron, Ashley, Chen, Rui, Davis, Sarah, Garzel, Laura, Gopalakrishna, Kota N, Harris, R Alan, Huang, Yijun, Kim, Soohyun, Li, Yumei, Liang, Qingnan, Moshiri, Ala, Murphy, Christopher J, Pomerantz, Ori, Raveendran, Muthuswamy, Roberts, Jeffrey, Rogers, Jeffrey, Stout, J Timothy, Thomasy, Sara M, Wang, Jun, Yiu, Glenn   +21 more
core  

Long-term rearrangement of retinal structures in a novel mutation of X-linked retinoschisis [PDF]

, 2017
The aim of the present study was to report a novel mutation in the retinoschisin 1 (RS1) gene in a Caucasian family affected by X-linked juvenile retinoschisis (XLRS) and to describe the long-term modification of retinal structure.
Colavito, Davide, Giudice Elda, Del, Leon, Alberta, Maritan, Veronica, Miotto, Stefania, Patrizia Tormene, Alma, Piermarocchi, Rita, Piermarocchi, Stefano   +7 more
core   +1 more source

Optical Coherence Tomography in Inherited Macular Dystrophies: A Review

Diagnostics
Macular dystrophies (MDs) constitute a collection of hereditary retina disorders leading to notable visual impairment, primarily due to progressive macular atrophy.
Alba Gómez-Benlloch, Xavier Garrell-Salat, Estefanía Cobos, Elena López, Anna Esteve-Garcia, Sergi Ruiz, Meritxell Vázquez, Laura Sararols, Marc Biarnés   +8 more
doaj   +1 more source

Techniques for subretinal injections in animals

Veterinary Ophthalmology, Volume 28, Issue 2, Page 506-518, March 2025.
Abstract Subretinal injections are not commonly performed during clinical treatment of animals but are frequently used in laboratory animal models to assess therapeutic efficacy and safety of gene and cell therapy products. Veterinary ophthalmologists are often employed to perform the injections in the laboratory animal setting, due to knowledge of ...
Ryan F. Boyd, Simon M. Petersen‐Jones
wiley   +1 more source

Histoire d'une famille de deux générations atteinte par la forme dominante de la maladie de Stargardt, due à une mutation sur le gène ELOVL4 : Case report [PDF]

, 2015
Un patient de 22 ans et les membres de sa famille se soumettent à un examen ophtalmique complet, comprenant un examen du fond d'oeil, une autofluorescence, une tomographie à cohérence optique (OCT), un champ visuel et un électrorétinogramme (ERG).
MORET, E.
core  

Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options [PDF]

, 2016
Stargardt disease (STGD1; MIM 248200) is the most prevalent inherited macular dystrophy and is associated with disease-causing sequence variants in the gene ABCA4 Significant advances have been made over the last 10 years in our understanding of both the
Fujinami, K, Michaelides, M, Strauss, RW, Tanna, P   +3 more
core   +1 more source