Results 61 to 70 of about 8,320 (263)

Axial length, myopia progression, and myopic maculopathy in Stickler syndrome

Acta Ophthalmologica, Volume 104, Issue 4, Page 423-430, June 2026.
Abstract Purpose We lack knowledge on the potentially progressive nature of and the prevalence of complications to myopia as a characteristic trait of Stickler syndrome. Methods This cross‐sectional study combines ophthalmic examination and medical record data on Danish patients with genetically confirmed Stickler syndrome type 1 (COL2A1) and type 2 ...
Kirstine B. Boysen, Mette Bertelsen, Nanna D. Rendtorff, Stense Farholt, Line Kessel   +4 more
wiley   +1 more source

Bilateral diffuse choroidal hemangioma in Sturge Weber syndrome: a case report highlighting the role of multimodal imaging and a brief review of the literature [PDF]

, 2019
Purpose: The purpose of this paper is to present a patient with bilateral choroidal hemangioma in Sturge-Weber syndrome (SWS) and highlight multimodal imaging techniques for early detection and management of ocular alterations.
Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Amirikia, Anand, Arora, Avery, Barbazetto, Boltshauser, Comi, Comi, Cruciani, Cunha e Sá, Curcio, Fenicia, Ferry, Gass, Giovannini, Gottlieb, Griffiths, Gunduz, Harris, Iwach, Kardon, Kashani, Kaushik, Kissel, Kivela, Kjeka, Kranemann, Lambiase, Lindsey, Linsenmeier, Luke, Madreperla, Mannino, Mantelli, Marana Perez, Maruyama, Muci Mendoza, Nema, Parsa, Patrianakos, Paulus, Pearce, Phelps, Recupero, Riley, Rodriguez Bujaldon, Schirmer, Scott, Scott, Sharan, Shields, Shields, Shin, Shirley, Singh, Sturge, Sujansky, Sullivan, Tanwar, Thomas-Sohl, Waelchli, Walter, Witschel, Wong, Worster Drought, Zallmann, Ziemssen, Zografos, Zografos   +76 more
core   +1 more source

Recurrent Macular Detachment and Retinoschisis Associated with Intrachoroidal Cavitation in a Normal Eye

Case Reports in Ophthalmology, 2012
Purpose: To describe a patient with intrachoroidal cavitation in the normal eye that caused self-limiting recurrent macular detachment and retinoschisis.
Masayuki Akimoto, Tadamichi Akagi, Kazushiro Okazaki, Etsuo Chihara   +3 more
doaj   +1 more source

Stellate nonheritable idiopathic foveomacular retinoschisis in juveniles: case report

BMC Ophthalmology, 2023
Background Stellate nonhereditary idiopathic foveomacular retinoschisis (SNIFR) is a rare type of retinoschisis with a spoke-like splitting that occurs in the outer plexus layer.
Jianan Liu, Yanhui Wang, Lifei Wang
doaj   +1 more source

Макуларна ретиношиза и нејзината семиотска важност [PDF]

, 2015
Вовед. Поимот ретиношиза означува раздвојување во слоевите на неуроретината. Може да се случи во периферните делови на ретината, но исто така и во регионот на макула лутеа кога зборуваме за макуларна ретиношиза.
Blazevska, Karolina, Golubovik, Milena, Isjanovski, Igor, Tatesi, Bekim   +3 more
core  

Vitreoretinal complications and surgical outcomes in patients with X‐linked retinoschisis

Acta Ophthalmologica, Volume 104, Issue 4, Page 410-422, June 2026.
Abstract Purpose X‐linked retinoschisis (XLRS) is an inherited vitreoretinal disorder characterized by macular retinoschisis. In a subgroup of patients, peripheral retinoschisis can occur, potentially leading to complications such as vitreous haemorrhage (VH) and retinal detachment (RD).
Jonathan Hensman, Leo C. Hahn, Mary J. van Schooneveld, Roselie M. H. Diederen, Filip van den Broeck, Jacoline B. Ten Brink, Alberta A. Thiadens, Maria M. van Genderen, L. Ingeborgh van den Born, Bart P. Leroy, Carel B. Hoyng, Camiel J. F. Boon   +11 more
wiley   +1 more source

Clinical features of a toddler with bilateral bullous retinoschisis with a novel RS1 mutation

American Journal of Ophthalmology Case Reports, 2017
Purpose: To report the clinical and genetic findings of a male toddler who presented bilateral bullous retinoschisis with a novel RS1 mutation. Observations: This is an observational case report of a patient referred to our hospital with esotropia.
Satoshi Katagiri, Shin Tanaka, Tadashi Yokoi, Takaaki Hayashi, Emiko Matsuzaka, Kazuko Ueda, Tomoyo Yoshida-Uemura, Akira Arakawa, Sachiko Nishina, Kazuaki Kadonosono, Noriyuki Azuma   +10 more
doaj   +1 more source

A review of the role of ultrasound biomicroscopy in glaucoma associated with rare diseases of the anterior segment [PDF]

, 2016
Ultrasound biomicroscopy is a non-invasive imaging technique, which allows high-resolution evaluation of the anatomical features of the anterior segment of the eye regardless of optical media transparency.
Abdolrahimzadeh, B, Anselmi, G, Calafiore, S, Lambiase, A, Mannino, C, Mannino, G   +5 more
core   +2 more sources

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation [PDF]

, 2006
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been identified in patients with Rett syndrome, West syndrome, and X-linked infantile spasms sharing the common features of generally intractable early seizures and mental ...
Badaracco G., Bertani I., Bolognese F., Conca B., De Monte L., Forlani G., Kilstrup-Nielsen C., Landsberger N., Rusconi L.   +8 more
core   +1 more source