Results 121 to 130 of about 19,671 (241)

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1716-1718, July 2026.
ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill, Cindy Bayer, Emily McQuillen, Erica D. Smith, Meghan Towne, Dallas Reed   +5 more
wiley   +1 more source

Short-Term Morpho-Functional Changes before and after Strabismus Surgery in Children Using Structural Optical Coherence Tomography: A Pilot Study

Vision
Purpose: To evaluate the immediate alterations in the thickness of the macular ganglion cell–inner plexiform layer (mGCIPL), peripapillary retinal nerve fiber layer (RNFL), inner retinal layer (IRL), and outer retinal layer (ORL) using spectral domain ...
Pasquale Viggiano, Marida Gaudiomonte, Ugo Procoli, Luisa Micelli Ferrari, Enrico Borrelli, Giacomo Boscia, Andrea Ferrara, Fabio De Vitis, Gemma Scalise, Valeria Albano, Giovanni Alessio, Francesco Boscia   +11 more
doaj   +1 more source

A 3‐year‐old girl with a left optic nerve tumor

Brain Pathology, EarlyView.
Samuel López Muñoz, Alberto Berjón, Carlos Rodríguez Antolín, Claudia Sánchez Lara, Marta Mendiola, Victoria Heredia Soto, Álvaro Lassaletta, Carlos González Pérez, Pedro Rubio Aparicio, Jorge Zamorano, Isabel Esteban Rodríguez   +10 more
wiley   +1 more source

From Behavioral and Sleep Disturbances to Genetic Diagnosis: Smith–Magenis Syndrome and the Importance of the Diagnostic Pathway

Developmental Neurobiology, Volume 86, Issue 3, July 2026.
ABSTRACT Smith–Magenis syndrome (SMS) is a rare multisystem genetic disorder caused by a 17p11.2 microdeletion or pathogenic variants in the retinoic acid‐induced 1 (RAI1) gene. It is characterized by developmental delay, distinctive craniofacial features, behavioral dysregulation, and inverted sleep–wake rhythm.
Fethiye Kılıçaslan, Ayşe Rümeysa Olgar Çetin, Özlem Öz, Mert Coşkun, Mehmet Burak Mutlu, Berna Polat Tüysüz   +5 more
wiley   +1 more source

Clinical and Genetic Spectrum of Filippi Syndrome: A Systematic Review of Published Case Reports and Case Series

Health Science Reports, Volume 9, Issue 7, July 2026.
ABSTRACT Background and Aims Filippi syndrome is a very rare autosomal recessive craniodigital disorder primarily caused by mutations in the gene CKAP2L, characterized by syndactyly, microcephaly, growth retardation, distinctive craniofacial features, and intellectual disability.
Muhammad Anas Faheem, Laraib Ghanghro, Ayesha Khan, Maryam Khalid, Salwa Bashir, Dania Iqbal, Adan Ali, Hussain Haider Shah, Sameer Abdul Rauf, Humaira Kalam   +9 more
wiley   +1 more source

Automated detection of steps in videos of strabismus surgery using deep learning

BMC Ophthalmology
Background Learning to perform strabismus surgery is an essential aspect of ophthalmologists’ surgical training. Automated classification strategy for surgical steps can improve the effectiveness of training curricula and the efficient evaluation of ...
Ce Zheng, Wen Li, Siying Wang, Haiyun Ye, Kai Xu, Wangyi Fang, Yanli Dong, Zilei Wang, Tong Qiao   +8 more
doaj   +1 more source

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source

Current concepts in concomitant strabismus management

Background: Strabismus is the term used to describe a misalignment of the eyes. It results from an abnormality of the neuromuscular control of eye movements. However, our current understanding of this anomaly remains incomplete. Although strabismus is a
Paduca, Ala
core   +1 more source

Body sway increases immediately after strabismus surgery.

, 2006
The purposes of this study were to examine whether body sway is altered immediately after strabismus surgery in children and to find preoperative clinical factors associated with body sway.
Narita, Akiko, Hiroshi Ohtsuki, Masuo Senda, Toshihiko Matsuo, Matsuo, Toshihiko, Senda, Masuo, Hasebe, Satoshi, Ohtsuki, Hiroshi, Satoshi Hasebe, Akiko Narita   +9 more
core   +1 more source

Strabismus management in retinoblastoma survivors

BMC Ophthalmology
Purpose To report the result of strabismus surgery in eye-salvaged retinoblastoma (Rb) patients. Methods A retrospective case series including 18 patients with Rb and strabismus who underwent strabismus surgery after completing tumor treatment by a ...
Babak Masoomian, Carol L. Shields, Hamid Riazi Esfahani, Atefeh Khalili, Fariba Ghassemi, Pukhraj Rishi, Mohammad Reza Akbari, Masoud Khorrami-Nejad   +7 more
doaj   +1 more source