Results 31 to 40 of about 6,924 (184)

A case of bilateral horizontal gaze palsy and concurrent esotropia

American Journal of Ophthalmology Case Reports, 2023
Purpose: To report a unique case of bilateral horizontal pontine gaze palsy with concurrent esotropia, surgical management, and post-operative follow-up. Observations: A 39-year-old male presented with diplopia and a history of neurocysticercosis. He was
Mina Ghobrial, Edward Kuwera
doaj   +1 more source

Human CNTNAP1 Variants Associated With Severe Neurological Deficits: Additional Cases and Literature Review

Muscle &Nerve, Volume 73, Issue 4, Page 517-526, April 2026.
ABSTRACT CNTNAP1 encodes the Contactin‐Associated Protein 1 (CNTNAP1), also known as Caspr1, which is a transmembrane protein critical for nervous system function. CNTNAP1 is localized to the paranodal regions of all myelinated axons, flanking either side of the node of Ranvier.
Lacey B. Sell, Derek Garcia, Alexandra Hollá, Ilana Chilton, Seth DeVries, Ana María Gómez‐Moreno, Manuel Lubián‐Gutiérrez, Qian Shi, Manzoor A. Bhat   +8 more
wiley   +1 more source

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 642-652, March 2026.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Convergence excess accommodative esotropia: a descriptive review of patients presenting over a period of 10 years

British and Irish Orthoptic Journal, 2011
Aim: Convergence excess accommodative esotropia describes an esotropia on accommodation at near fixation that is controlled to an esophoria/orthophoria at distance fixation with binocular single vision.
Tess Garretty
doaj   +1 more source

Cranial Nerve Involvement With Diplopia as Presenting Feature of CMT1H Caused by Recurring FBLN5 Variant

Journal of the Peripheral Nervous System, Volume 31, Issue 1, March 2026.
ABSTRACT Background and Aims CMT1H is a rare, autosomal dominant, demyelinating subtype of CMT caused by variants in FBLN5. Symptomatic cranial nerve involvement has never been reported in patients with CMT1H. Case Report We report a 45‐year‐old woman with a history of long‐standing diplopia.
Georgios Koutsis, Zoi Kontogeorgiou, Charalampos Tzempetzis, Nikolaos Ragazos, Evgenia Efthymiou, Chrisoula Kartanou, Chrysoula Koniari, Nikolaos Giagkou, Klio Chatzistefanou, Georgios Velonakis, Georgia Karadima, Vasiliki Zouvelou   +11 more
wiley   +1 more source

Acute acquired comitant esotropia associated with Lhermitte–Duclos disease: a case report

Journal of Medical Case Reports
Background Acute acquired comitant esotropia caused by prolonged near work, such as the use of digital devices, has been frequently reported in recent years.
Junya Ota, Ryo Ando, Hiroaki Motegi, Hirokazu Sugino, Tomoko Mitsuhashi, Susumu Ishida   +5 more
doaj   +1 more source

Assessment of pattern of refractive errors in infantile esotropia- A single-center cross-sectional study

Liaquat Medical Research Journal, 2021
This was a cross-sectional study conducted to explore the patterns of refractive errors found in infantile esotropia patients from newborns to the age of 15 years, attending the Pediatric clinic of Al-Ibrahim Eye Hospital, Karachi, Sindh, Pakistan.
Muhammad Asif Memon, Naman Akhtar, Mehak Nazeer, Nabila Noor, Kanwal Parveen, Izmal Urooj   +5 more
doaj   +1 more source

Expanded Phenotype of PAX2‐Related Papillorenal Syndrome: A Case Featuring FSGS, Atypical Retinopathy, Cerebellar Hypoplasia, and ADHD

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Papillorenal syndrome (PAPRS), or renal coloboma syndrome, is a rare autosomal dominant disorder caused by PAX2 mutations. It classically manifests with renal hypodysplasia and optic nerve anomalies. However, recent literature suggests an expanding phenotypic spectrum.
Nadira Sultana, Abdullah Al Mamun, Afroza Begum   +2 more
wiley   +1 more source

A Conservative Approach by Unilateral Maximal Single-Muscle Recession Surgery for the Treatment of Cyclic Esotropia

Case Reports in Ophthalmological Medicine, 2023
Purpose. Cyclic esotropia (alternate-day squint) is a poorly understood form of strabismus that mostly occurs at younger pediatric ages. It demonstrates classically a 48-hour cycle with 24 hours of manifest esotropia and 24 hours of orthotropia, which is
Cem Evereklioglu, Fatih Horozoğlu, Hidayet Sener, Osman Ahmet Polat   +3 more
doaj   +1 more source

Cyclic Esotropia: Surgical Treatment Results of Two Cases

Türk Oftalmoloji Dergisi, 2014
Cyclic esotropia is a rare form of strabismus characterized by alternating periods of esotropia and orthophoric (or almost orthophoric) eye position. Herein, we discuss two children with cyclic esotropia and their surgical treatment results.
Serpil Akar, Birsen Gökyiğit, Çiğdem Altan, Pelin Kaynak, Ahmet Demirok   +4 more
doaj   +1 more source