Results 161 to 170 of about 189,868 (219)

X-linked Retinoschisis With Point Mutations in the XLRS1 Gene [PDF]

イノウエ, ユミコ, 井上, 由美子   +1 more
core  

Intravitreal injection of new adeno-associated viral vector: Enhancing retinoschisin 1 gene transduction in a mouse model of X-linked retinoschisis. [PDF]

Biochem Biophys Rep
Sun Y, Xiao D, Li Z, Xu D, Zhang D, An Y, Xue J, Ren Y, Liu S, Wang D, Li J, Wang Z, Pang J.   +12 more
europepmc   +1 more source

Positional Cloning of the Mulibrey Nanism Gene (MUL) [PDF]

, 2000
Avela, Kristiina
core  

Vitreoretinal complications and surgical outcomes in patients with X-linked retinoschisis.

Acta Ophthalmologica, EarlyView.
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
John A. Hensman, Leo C. Hahn, M. V. van Schooneveld, R. Diederen, Filip van den Broeck, J. T. ten Brink, A. Thiadens, M. V. van Genderen, L. I. van den Born, Bart P. Leroy, C. Hoyng, C. J. Boon   +11 more
semanticscholar   +2 more sources

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X-linked congenital retinoschisis

Graefe's Archive for Clinical and Experimental Ophthalmology, 1990
The natural history and electrophysiological findings of 52 patients with X-linked congenital retinoschisis with a follow-up of up to 26 years are described. The mean visual acuity was reduced to 0.24 +/- 0.2 and remained unchanged in most patients during this time. If visual loss occurred, it usually happened in the first decennium.
U, Kellner, S, Brümmer, M H, Foerster, A, Wessing   +3 more
openaire   +2 more sources

X-linked Juvenile Retinoschisis

2018
X-linked juvenile retinoschisis (XLRS) occurs exclusively in males and is characterized by visual loss that begins in early childhood; patients are usually school-age and are experiencing visual disturbances, especially in reading. The prevalence is estimated to be 1 in 5000-25,000 men, worldwide. XLRS has complete penetrance but variable expressivity.
Stephen H, Tsang, Tarun, Sharma
openaire   +3 more sources

Typical and atypical clinical presentations of X-Linked retinoschisis: A case series and literature review.

Survey of ophthalmology, 2023
X-linked retinoschisis (XLRS) is an X-linked inherited retinal dystrophy characterized by mild-to-severe visual impairment, splitting of the retinal layers, and a reduction in the dark-adapted b-wave amplitude on the electroretinogram.
Taku Wakabayashi, E. Chang, E. Nudleman, Ehab N El-Rayes, Y. Yonekawa   +4 more
semanticscholar   +1 more source

Identification and molecular characterization of two recurrent missense mutations in RS1 gene in two families with X-linked retinoschisis from North India.

American Journal of Medical Genetics. Part A, 2023
X-linked retinoschisis (XLR) is a rare medical condition that involves in the splitting of neurosensory layers and the impairment of vision in the retina.
Souradip Chatterjee, Shashank Gupta, Laxmi Kirola, A. Chandra, A. Mukherjee, M. Mutsuddi   +5 more
semanticscholar   +1 more source

SYMPTOMATIC EARLY-ONSET X-LINKED RETINOSCHISIS

Retina, 2023
X-linked retinoschisis is a common pediatric retinal dystrophy that is usually diagnosed at school age but can be also present much earlier. We describe clinical characteristics and outcomes of patients with symptomatic X-linked retinoschisis diagnosed ...
G. Piquin, Y. Abdelmassih, Gilles C. Martin, C. Edelson, F. Metge, G. Caputo, T. Chapron   +6 more
semanticscholar   +1 more source

Retinal Detachments in Pediatric Patients With X-Linked Retinoschisis: Characteristics and Surgical Outcomes.

Ophthalmic Surgery Lasers and Imaging Retina, 2023
BACKGROUND AND OBJECTIVE Retinal detachments (RDs) are a complication of X-linked retinoschisis (XLRS) with a poor prognosis. This study aims to report outcomes of XLRS-RD repair in pediatric patients. MATERIALS AND METHODS The study is a retrospective
Jesse D. Sengillo, Hasenin Al-khersan, L. Rohowetz, Marissa K. Shoji, Hailey K. Robles-Holmes, Natasha Ferreira Santos da Cruz, Catherin I. Negron, Nicolas A. Yannuzzi, Nimesh A. Patel, A. Berrocal   +9 more
semanticscholar   +1 more source