Results 81 to 90 of about 189,868 (219)
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 +5 more
wiley +1 more source
Frontiers in PharmacologyX-linked retinoschisis (XLRS) is an inherited retinal disease caused by mutations in the RS1 gene, which encodes retinoschisin, a protein essential for maintaining the retinal structure during development.
Yue Ren +16 more
doaj +1 more source
En face swept-source optical coherence tomographic analysis of X-linked juvenile retinoschisis
American Journal of Ophthalmology Case Reports, 2016 Purpose: To clarify the area of retinoschisis by X-linked juvenile retinoschisis (XLRS) using swept-source optical coherence tomography (SS-OCT) en face images. Observations: We report two cases of XLRS in the same family.
Shinji Ono +4 more
doaj +1 more source
Case report: Autosomal recessive bestrophinopathy with macular cysts and MNV over 13-year follow-up
Frontiers in Genetics, 2022 Purpose: To describe the phenotype and genotype of a patient with autosomal recessive bestrophinopathy (ARB) over a 13-year follow-up period.Methods: The phenotype of the subject was described after a complete ophthalmological examination, which included
Lei Zhang +5 more
doaj +1 more source
Expression Profiling Analysis Reveals Key MicroRNA– mRNA Interactions in Early Retinal Degeneration in Retinitis Pigmentosa [PDF]
, 2018 PURPOSE. The aim of this study was to identify differentially expressed microRNAs (miRNAs) that might play an important role in the etiology of retinal degeneration in a genetic mouse model of retinitis pigmentosa (rd10 mice) at initial stages of the ...
Anasagasti, Ander +7 more
core +2 more sources
BMEMat, Volume 4, Issue 1, March 2026.Efficient drug delivery to the posterior segment of the eye has long been a challenging issue due to the complex ocular barriers. The review focuses on the promise held by nanoplatforms for barrier penetration and the key mechanisms involved, also highlighting their advantages in achieving efficient drug delivery and superior treatment of PSEDs ...
Yifan Shen +7 more
wiley +1 more source
Juvenile X-Linked retinoschisis: Response to topical dorzolamide therapy
TNOA Journal of Ophthalmic Science and Research, 2018 We report clinical course of a 22-year-old Indian male patient presenting with bilateral Juvenile X-linked retinoschisis (JXLRS) in response to topical 2% dorzolamide hydrochloride treatment.
Krati Gupta +5 more
doaj +1 more source
Experience of more than 100 preimplantation genetic diagnosis cycles for monogenetic diseases using whole genome amplification and linkage analysis in a single centre [PDF]
, 2015 published_or_final_versio
Chow, JFC +5 more
core +1 more source
Investigating the Role of Zebrafish Retinoschisin Homologs Rs1a and Rs1b During Retinal Development
Developmental Neurobiology, Volume 86, Issue 1, January 2026.ABSTRACT Deficiency in the retinoschisin protein (RS1) causes X‐linked juvenile retinoschisis (XLRS), a retinal degenerative disease that disrupts retinal layers and forms cystic cavities. In addition to its structural function, RS1 is believed to play a role in retinal development.
Isa van der Veen +4 more
wiley +1 more source
Detailed Retinal Imaging In Carriers Of Ocular Albinism [PDF]
, 2017 BACKGROUND: Albinism refers to a group of disorders primarily characterized by hypopigmentation. Affected individuals usually manifest both ocular and cutaneous features of the disease, but occasionally hair and skin pigmentation may appear normal. This
Ali, M +12 more
core +2 more sources