Results 1 to 10 of about 7,532,788 (147)

Transient Resolution of Foveal Schisis Following Macula-Involving Retinal Detachment in Juvenile X-Linked Retinoschisis [PDF]

Case Reports in Ophthalmological Medicine
We present the case of a 9-year-old boy with X-linked retinoschisis (XLRS) who experienced transient resolution of foveal schisis after developing macula-involving retinal detachment. Following successful scleral buckling surgery and retinal reattachment,
Mohammad Zarei, Nazanin Ebrahimiadib, Parichehr Ghahari, Zohre Ebrahimi   +3 more
doaj   +3 more sources

Morphological and Molecular Defects in Human Three-Dimensional Retinal Organoid Model of X-Linked Juvenile Retinoschisis [PDF]

Stem Cell Reports, 2019
Summary: X-linked juvenile retinoschisis (XLRS), linked to mutations in the RS1 gene, is a degenerative retinopathy with a retinal splitting phenotype. We generated human induced pluripotent stem cells (hiPSCs) from patients to study XLRS in a 3D retinal
Kang-Chieh Huang, Mong-Lien Wang, Shih-Jen Chen, Jean-Cheng Kuo, Won-Jing Wang, Phan Nguyen Nhi Nguyen, Karl J. Wahlin, Jyh-Feng Lu, Audrey A. Tran, Michael Shi, Yueh Chien, Aliaksandr A. Yarmishyn, Ping-Hsing Tsai, Tien-Chun Yang, Wann-Neng Jane, Chia-Ching Chang, Chi-Hsien Peng, Thorsten M. Schlaeger, Shih-Hwa Chiou   +18 more
doaj   +4 more sources

Editorial: X-linked retinoschisis: mechanisms and therapies [PDF]

Frontiers in Medicine
Alina V. Dumitrescu, Mary Elizabeth Hartnett, Arlene V. Drack, Arlene V. Drack   +3 more
doaj   +4 more sources

Carbonic anhydrase inhibitors limit complications in X-linked retinoschisis [PDF]

Frontiers in Medicine, 2023
PurposeCarbonic anhydrase inhibitors (CAIs) reduce macular schisis in patients with X-linked retinoschisis (XLRS). The purpose of this study was to determine if CAIs reduce the incidence of complications from XLRS, including macular atrophy, retinal ...
Stephanie Wey, Stephanie Wey, Stephanie Wey, Daniel A. Brill, Daniel A. Brill, Daniel A. Brill, Virginia Miraldi Utz, Virginia Miraldi Utz, Robert A. Sisk, Robert A. Sisk, Robert A. Sisk   +10 more
doaj   +2 more sources

Vitreous hemorrhage in X-linked retinoschisis [PDF]

American Journal of Ophthalmology Case Reports, 2022
Purpose: To report a case of preretinal hemorrhage from extraretinal neovascularization related to capillary non-perfused retina within a large schisis in a pediatric patient with X-linked retinoschisis (XLRS). Observations: A 4-year old male with an RS1
M. Margarita Parra, M. Elizabeth Hartnett   +1 more
doaj   +2 more sources

Mizuo–Nakamura phenomenon in X-linked retinoschisis [PDF]

American Journal of Ophthalmology Case Reports, 2022
Purpose: To determine whether the Mizuo–Nakamura phenomenon, which is an important diagnostic sign of Oguchi's disease, also occurs in patients with genetically proven X-linked retinoschisis (XLRS). Methods: We examined three patients with a clinical and
Kenji Wakabayashi, Yuka Sakai-Wakabayashi, Chie Ishigami   +2 more
doaj   +2 more sources

Immune landscape in children with X-linked retinoschisis [PDF]

BMC Immunology
Background X-linked retinoschisis is a retinovitreal disorder primarily affecting males, starting in childhood. Over time, patients experience deterioration of vision due to the lack of retinoschisin-1 function. In clinical trials performing intravitreal
Ying Hsu, Giulia Del Valle, Sarah Stanley, Brianna Lobeck, Sergei I. Syrbu, Christine Sinkey, Christopher R. Fortenbach, Alina Dumitrescu, Arlene V. Drack   +8 more
doaj   +2 more sources

X-linked recessive ichthyosis with X-linked retinoschisis in two brothers: a case report [PDF]

Frontiers in Genetics
BackgroundX-linked ichthyosis (XLI) and X-linked retinoschisis (XLRS) are both inherited in an X-linked recessive manner. To date, no prior reports document both conditions’ simultaneous occurrence. This case presents two brothers who were diagnosed with
Kou Liu, Kou Liu, Xiaojun Du, Xiaohan Yang, Chunli Chen   +4 more
doaj   +2 more sources

Optical coherence tomography findings of the peripheral retina in patients with congenital X-linked retinoschisis [PDF]

Frontiers in Medicine, 2023
IntroductionCongenital X-linked retinoschisis (XLRS) presents as macular retinoschisis/degeneration in almost all patients and as peripheral retinoschisis in half the patients.
Ayaka Nakajima, Ayaka Nakajima, Kazuki Kuniyoshi, Chiharu Iwahashi, Fukutaro Mano, Takaaki Hayashi, Hiroyuki Kondo, Kei Mizobuchi, Itsuka Matsushita, Akiko Suga, Kazutoshi Yoshitake, Kazutoshi Yoshitake, Tadashi Nakano, Takeshi Iwata, Chota Matsumoto, Shunji Kusaka   +15 more
doaj   +2 more sources

Genotypic and phenotypic diversity in X-linked retinoschisis: Findings from a South Indian patient cohort [PDF]

Indian Journal of Ophthalmology
Purpose: Retinoschisis is a distinctive condition characterized by intraretinal layer clefts, primarily associated with X-linked recessive inheritance due to RS1 gene mutations.
Susmita Chowdhury, Prakash Chermakani, Girish Baliga, Rupa Anjanamurthy, Periasamy Sundaresan   +4 more
doaj   +2 more sources