Results 51 to 60 of about 1,654 (162)

Multiple Mitochondrial Dysfunction Syndrome Caused by IBA57 Gene Mutation: A Case Report and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
We report a novel IBA57 variant in a pediatric case, with pathogenicity confirmed through familial segregation analysis, Sanger sequencing, 3D protein modeling, and evolutionary conservation studies. Mitochondrial complex activity assays demonstrated functional impairment. A comprehensive review of literature further elucidates the genotypic‐phenotypic
Jia Xu, Xin Zhang, Ying Hua, Li Yang, Dongyu Shi, Shiyan Qiu   +5 more
wiley   +1 more source

Current concepts on esotropia

Kerala Journal of Ophthalmology
The management of esotropia differs fundamentally from that of exotropia. Humans possess strong innate fusional convergence, allowing even large exodeviations to remain intermittent with preserved high-grade stereopsis. In contrast, natural divergence is
Kenneth W. Wright
doaj   +1 more source

Correlation between the axial length and the effect of recession of horizontal rectus muscles

Journal of the Egyptian Ophthalmological Society, 2017
Purpose The aim of this study is to determine whether the axial length (AxL) measurement would be useful in predicting the effect of horizontal rectus muscles recession.
Manar A Ghali
doaj   +1 more source

Alterations in Corpus Callosum Subregion Microstructure Associated With Visual Dysfunction in Individuals With Cerebral Visual Impairment

Behavioural Neurology, Volume 2026, Issue 1, 2026.
Background Cerebral/cortical visual impairment (CVI) is among the leading causes of visual impairment in children. Yet, identifying the neural correlates of CVI remains challenging due to the heterogeneous underlying etiologies and visual manifestations.
Marie Drottar, Chan-Mi Kim, Howard J. Cabral, Corinna M. Bauer, Nikhat Kaura   +4 more
wiley   +1 more source

Intestinal Atresia in PPP1R12A ‐Related Urogenital and Brain Malformation Syndrome

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes, Sanjana Karamcheti, Álvaro Martín Rodriguez, Anna‐Kaisa Niemi, Lynne M. Bird   +4 more
wiley   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Long-term motor and sensory outcomes after surgery for infantile esotropia [PDF]

Vojnosanitetski Pregled, 2016
Background/Aim. Infantile esotropia (ET), entitled as congenital ET, is defined as an alternating, cross-fixational ET that occurs within the first 6 months of life. The aim of this study was to determine the long-term motor and sensory outcomes
Altınsoy Halil Ibrahim, Gokce Gokcen, Ceylan Osman Melih, Mutlu Fatih Mehmet   +3 more
doaj   +1 more source

Cerebral visual impairment (CVI) overlooked: A retrospective review of missed opportunities to diagnose CVI

Ophthalmic and Physiological Optics, Volume 45, Issue 7, Page 1622-1629, November 2025.
Abstract Purpose Cerebral Visual Impairment (CVI) is the leading cause of paediatric visual impairment in developed countries. Earlier diagnosis provides access to early intervention, which may improve visual function, functional vision and developmental outcomes.
Melissa L. Rice, Terry L. Schwartz, Jillian Bulman, Li Lin, Karen Harpster   +4 more
wiley   +1 more source

Infantile Cerebellar‐Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model

Clinical Genetics, Volume 108, Issue 3, Page 266-278, September 2025.
Our Translational Loop integrates patient genetic data with Drosophila models to study disease mechanisms. We identified ACO2 variants in a patient linked to ICRD and show that our animal model mirrors key aspects of the disease. These insights help pinpoint therapeutic targets, advancing research toward treatments for rare genetic disorders.
Edgar Buhl, Suchika Garg, Marie Monaghan, Amy Preston, Marcus Likeman, Julianne Dare, Julie Evans, Lucie S. Taylor, Ian Berry, Kathryn Urankar, Paul G. D. Spry, Cathy Williams, Robert W. Taylor, Charlotte L. Alston, James J. L. Hodge, Anirban Majumdar   +15 more
wiley   +1 more source

Retrospective Study of Clinical and Genetic Profiles of Alpha‐Mannosidosis Patients From the UAE

JIMD Reports, Volume 66, Issue 2, March 2025.
ABSTRACT Alpha‐mannosidosis (AM; OMIM 248500) is a rare autosomal recessive lysosomal storage disorder caused by mutations in MAN2B1, which codes for the lysosomal alpha‐mannosidase enzyme (LAMAN; EC:3.2.1.24). Clinical characteristics include developmental delay, hearing impairment, and recurrent infections.
Ali K. Saad, Tasneem Al‐Hammadi, Shaikha Al‐Ameri, Aisha Al‐Shamsi, Noura Al‐Dhaheri, Amal Al Tenaiji, Fatma Al Jasmi   +6 more
wiley   +1 more source