Results 51 to 60 of about 5,586 (206)

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

Prenatal Diagnosis, Volume 46, Issue 9, Page 1374-1384, August 2026.
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

Optical Coherence Tomography Findings in Patients with Degenerative Retinoschisis and Symptomatic Retinal Detachment

, 2010
This article describes the optical coherence tomography (OCT) findings in 4 patients with degenerative retinoschisis and symptomatic retinal detachment. All patients underwent pars plana vitrectomy, fluid gas exchange, and endolaser treatment.
Harry W. Flynn, Smiddy, William E, Gaitan, Jaime R, Negrao, Silvana, Jaime R. Gaitan, William E. Smiddy, Flynn, Jr, Harry W, Silvana Negrao   +7 more
core   +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

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

High-Resolution Optical Coherence Tomography in Late-Stage Familial Foveal Retinoschisis

, 2012
A 35-year-old male patient with blurred vision in both eyes since childhood has been diagnosed with foveaschisis at the age of 14. The patient had 5 brothers, all reported to have similar retinal problems.
Murat Karaçorlu, Hakan Özdemir, Serra Arf, Fevzi Şentürk   +3 more
core   +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

X-linked retinoschisis: an update [PDF]

Journal of Medical Genetics, 2006
X-linked retinoschisis is the leading cause of macular degeneration in males and leads to splitting within the inner retinal layers leading to visual deterioration. Many missense and protein truncating mutations have now been identified in the causative retinoschisis gene (RS1) which encodes a 224 amino acid secreting retinal protein, retinoschisin ...
Sikkink, Stephen K., Biswas, Susmito, Parry, Neil R A, Stanga, Paulo E., Trump, Dorothy   +4 more
openaire   +3 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

A hybrid coloboma and optic disc pit associated with macular retinoschisis

BMC Ophthalmology, 2019
Background To report and describe an unusual case of a patient with optic disc pit in one eye and optic disc coloboma with a focal pit associated with macular retinoschisis in the other eye. Case presentation A 21-year-old woman presented with optic disc
Ricardo Yuji Abe, Camila Ishii Iguma, Lorena Campos Wen   +2 more
doaj   +1 more source

Retinoschisis and Norrie disease: a missing link

BMC Research Notes, 2021
Objective Retinoschisis and Norrie disease are X-linked recessive retinal disorders caused by mutations in RS1 and NDP genes respectively. Both are likely to be monogenic and no locus heterogeneity has been reported.
Rahini Rajendran, Dhandayuthapani Sudha, Subbulakshmi Chidambaram, Hemavathy Nagarajan, Umashankar Vetrivel, Jayamuruga Pandian Arunachalam   +5 more
doaj   +1 more source