Results 71 to 80 of about 189,868 (219)

Cellular Imaging Of The Tapetal-like Reflex In Carriers Of RPGR-associated Retinopathy [PDF]

, 2017
PURPOSE: To examine the features of the tapetal-like reflex (TLR) in female carriers of RPGR-associated retinopathy by means of adaptive optics scanning light ophthalmoscopy (AOSLO) and spectral domain optical coherence tomography.
Carroll, J, Dubra, A, Kalitzeos, A, Kasilian, M, Langlo, C, Michaelides, M, Samra, R, Strampe, M, Tee, JJL, Webster, AR   +9 more
core   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

Of men and mice: Human X-linked retinoschisis and fidelity in mouse modeling.

Progress in retinal and eye research, 2021
X-linked Retinoschisis (XLRS) is an early-onset transretinal dystrophy, often with a prominent macular component, that affects males and generally spares heterozygous females because of X-linked recessive inheritance. It results from loss-of-function RS1
C. Vijayasarathy, S. P. B. Sardar Pasha, P. Sieving   +2 more
semanticscholar   +1 more source

Adaptive optics imaging of inherited retinal diseases. [PDF]

, 2017
Adaptive optics (AO) ophthalmoscopy allows for non-invasive retinal phenotyping on a microscopic scale, thereby helping to improve our understanding of retinal diseases.
Carroll, J, Dubra, A, Georgiou, M, Kalitzeos, A, Michaelides, M, Patterson, EJ   +5 more
core   +1 more source

Bullous X linked retinoschisis: clinical features and prognosis [PDF]

, 2018
BACKGROUND/AIMS: A subset of patients with X linked retinoschisis (XLRS) have bullous schisis cavities in the peripheral retina. This study describes the characteristics and prognosis of the bullous form of XLRS.
Fahim, A, Hinds, A-M, Michaelides, M, Moore, AT, Wong, SC   +4 more
core  

The oscillatory response of the electroretinogram and neuronal adaptation

Acta Ophthalmologica, EarlyView.
Abstract After more than 50 years, there still remains a challenge and an interest to know more as well as extend and deepen our understanding of the small rapid wavelets, the oscillatory potentials (OPs), of the electroretinogram (ERG) and the neuronal adaptation of the retina.
Lillemor Wachtmeister, Anders Eklund
wiley   +1 more source

Retinal detachment associated with the splice site mutation c.53-1G>A in the gene: A case report and review of the literature

SAGE Open Medical Case Reports
Retinoschisin protein is mainly produced in the retina, with minimal expression in other tissues. It is located on the surface of the photoreceptor inner segments and bipolar cells.
Jia Meng, Shanjun Cai, Gang Su
doaj   +1 more source

Acute Vitreous and Intraretinal Hemorrhage with Multifocal Subretinal Fluid in Juvenile X-Linked Retinoschisis

Case Reports in Ophthalmological Medicine, 2020
Purpose. To report a rare case of spontaneous vitreous and intraretinal hemorrhage in a patient with juvenile X-linked retinoschisis which was managed conservatively. Methods. Single patient case report. Introduction.
Sidra Ibad, Carl S. Wilkins, Alexander Pinhas, Vincent Sun, Matthew S. Wieder, Avnish Deobhakta   +5 more
doaj   +1 more source

Cog-Wheel Octameric Structure of RS1, the Discoidin Domain Containing Retinal Protein Associated with X-Linked Retinoschisis. [PDF]

PLoS ONE, 2016
RS1, also known as retinoschisin, is a disulphide-linked, discoidin domain containing homo-oligomeric protein that plays a crucial role in maintaining the cellular and synaptic organization of the retina.
Martin Bush, Dheva Setiaputra, Calvin K Yip, Robert S Molday   +3 more
doaj   +1 more source

Clinical disorders affecting mesopic vision [PDF]

, 2006
Vision in the mesopic range is affected by a number of inherited and acquired clinical disorders. We review these conditions and summarize the historical background, describing the clinical characteristics alongside the genetic basis and molecular ...
Abramowicz M., Ahmed F., Ahmed F., Al-Kubaisy W., Asrat Y., Ayyagari R., Baillie I., Bergen H. R., Berson E., Bloem M., Bordley J., Bret-Dibat C., Brink E., Burstedt M., Burstedt M., Capon M., Carr R., Carr R., Chisholm C., Christian P., Cunier F., de Pee S., DOG, Donnen P., Duke-Elder S., Fishman G., Fuchs A., Fuchs A., Gross-Jendroska M., Guy J., Haidar J., Hartmann E., Hayashi T., Hayashi T., Heckenlively J., Kalloniatis M., Kamei M., Kellner U., Kolling G., Lauber H., Lei B., Lorenz B., Main A., Marmor M., Marmor M., McBain V., Mele L., Milam A., Miyake Y., Miyake Y., Miyake Y., Mizuo A., Morimura H., Nabakwe E., Nettleship E., Oguchi C., Onder C., Parker W., Perlman I., Pesudovs K., Phelan J., Polans A., Polkinghorne P., Ramalho R., Reiner J., Resnikoff S., Ripps H., Rosen D., Rosen D., Rougier M., Ruiz-Martin M., Saunders C., Sawyer R., Schaumberg D., Schemann J., Schlote T., Schubert G., Sharp D., Shaw C., Skinner H., Smith R. A. J., Sommer A., Somner A., Sorsby A., Souied E., Spalton D., Stephenson S., Stockman A., Tabata Y., Takeuchi T., Taren D., Thirkill C., Tielsch J., Underwood B., Uyemura M., Weinstein J., Weiss J., Weiss N., Wolf G., Wolf G., Wolfe J. E.   +100 more
core   +1 more source