Results 51 to 60 of about 10,187 (227)

Clinical Outcomes and Correlation With Biochemical Control in Hydroxocobalamin‐Treated Patients With Early‐Onset Cobalamin C Disease

JIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT Cobalamin C (cblC) disease is the most common disorder of Vitamin B12 activation. The early‐onset form presents within the first few months of life, with some patients identified through newborn screening (NBS). However, despite early detection and optimal treatment, patient outcomes remain poor, with intellectual impairment and progressive ...
Arthavan Selvanathan, Ashley Hertzog, Jacqui Russell, Rosie Junek, Carolyn Ellaway, Kate Lichkus, Adviye Ayper Tolun, Kaustuv Bhattacharya   +7 more
wiley   +1 more source

Outcome of Esotropia Surgery in 2 Tertiary Hospitals in Cameroon

Clinical Ophthalmology, 2020
Viola Andin Dohvoma,1,2 Stève Robert Ebana Mvogo,1 Jean Audrey Ndongo,1 Caroline Tsimi Mvilongo,2 Côme Ebana Mvogo1,2 1Faculty of Medicine and Biomedical Sciences, University of Yaoundé I, Yaoundé, Cameroon; 2Yaoundé ...
Dohvoma VA, Ebana Mvogo SR, Ndongo JA, Mvilongo CT, Ebana Mvogo C   +4 more
doaj  

A Case Report of Nystagmus with Acute Comitant Esotropia Secondary to Heroin Withdrawal: A Novel Presentation

Case Reports in Ophthalmology, 2015
Background: Acute comitant esotropia secondary to heroin withdrawal is a rarely reported phenomenon that has never been described with nystagmus. Adverse effects of heroin on eye alignment were first reported in soldiers returning from Vietnam, yet no ...
Richard L. Rabin
doaj   +1 more source

Treatment of 0.01% atropine eye drops induced convergence excess esotropia and rebound myopia managed with 1% atropine eye drops

Indian Journal of Ophthalmology. Case Reports, 2021
We report a case of progressive childhood myopia who developed rebound myopia and convergence excess esotropia after switching from 1% atropine eye drops to 0.01% atropine eye drops.
Shairin Jahan, Mihir Kothari, Meghna Solanki   +2 more
doaj   +1 more source

Novel LAMA1 Mutations in a Pedigree With Poretti‐Boltshauser Syndrome: Implications for Hypomyelination

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
This study reports novel compound heterozygous LAMA1 variants in two siblings with Poretti‐Boltshauser syndrome presenting with cerebral hypomyelination. It provides the first clinical evidence linking LAMA1 to CNS dysmyelination, expanding the phenotypic spectrum and offering mechanistic insights into this rare association. ABSTRACT Background Poretti‐
Si Huang, Yiyang Li, Jing Xin, Wenhui Mo, Xiuwen Lin, Bingbin Mai, Junbin He, Xiaoli Zhong, Jiaxin Xu   +8 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

Clinical Characteristics and Outcomes after Augmented Medial Rectus Muscle Recession in Patients with Acute Acquired Comitant Esotropia [PDF]

, 2023
Young-Eun Kim, Haeng‐Jin Lee
openalex   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 937-946, April 2026.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

Orthotropic Outcome With Spectacle Correction in a Pediatric Case of Refractive Esotropia and Anisometropic Amblyopia

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Early and accurate spectacle correction in children with refractive esotropia and anisometropic amblyopia can restore orthotropia, improve visual acuity, and prevent long‐term amblyopia. Timely diagnosis, careful refractive assessment, and individualized management are crucial.
Nabila Al‐Tamimi, Meher Wali Khan, Mohammed Amer Ali, Fadila Graini   +3 more
wiley   +1 more source

Lateral rectus muscle differentiation potential in paralytic esotropia patients [PDF]

, 2021
Qing Xia, Xiangtian Ling, Zhonghao Wang, Tao Shen, Minghao Chen, Danyi Mao, Xinqi Ma, Jie Ning, Han Zhang, Dongli Chen, Qiong Gu, Huangxuan Shen, Jianhua Yan   +12 more
openalex   +1 more source