Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Ophthalmic phenotype and strabismus surgery in Angelman syndrome: genotype-specific risks and uniform surgical efficacy.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Apr 2026

Xu Kai, Chen Xin, Li Xinyue, Lu Zupeng, Zhou Xiaoting, Fang Wangyi, Du Xiaodong, Shahraki Kourosh, Suh Donny W, Qiao Tong

Abstract excerpt

BACKGROUND: Ophthalmic manifestations in Angelman syndrome (AS)-particularly strabismus surgical outcomes and genotype-phenotype correlations-remain inadequately characterized due to limited cohort sizes in prior studies. METHODS: This 6-year (2018-2024) retrospective cohort study analyzed 40 genetically confirmed AS patients undergoing strabismus surgery, stratified by molecular subtype: deletion (15q11.2-q13del...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Angelman Syndrome
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Infant

Share to Oculomotor Muscles

Share to Strabismus

Share to Treatment Outcome

Share to Visual Acuity

Source

Identifiers

PMID: 41905512
DOI: 10.1016/j.jaapos.2026.104811

Genes

OCA2
UBE3A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Ophthalmic phenotype and strabismus surgery in Angelman syndrome: genotype-specific risks and uniform surgical efficacy.PMID 41905512Read ↗

Ophthalmic findings in Angelman syndrome.Semantic proximity Read ↗

BEST1 associated bestrophinopathies with angle closure and post-surgical malignant glaucoma.Semantic proximity Read ↗

Ophthalmic manifestations of NAA10-related and NAA15-related neurodevelopmental syndromes: Analysis of cortical visual impairment and refractive errors.Semantic proximity Read ↗

Optic Atrophy in Wolfram Syndrome Type 1: A Retrospective Analysis of Visual Outcomes and Biomarker Correlates.Semantic proximity Read ↗

Ophthalmic Manifestations of NAA10-Related and NAA15-Related Neurodevelopmental Syndrome: Analysis of Cortical Visual Impairment and Refractive ErrorsSemantic proximity Read ↗

Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations.Semantic proximity Read ↗

Spectrum of Ophthalmic Disorders in Prader-Willi Syndrome: Implications for Early Screening and Multidisciplinary ManagementSemantic proximity Read ↗

[Clinical and molecular genetic analysis of Angelman syndrome with oculocutaneous albinism type 2: A case report and literature review].Semantic proximity Read ↗

Clinical albinism score, presence of nystagmus and optic nerves defects are correlated with visual outcome in patients with oculocutaneous albinism.Semantic proximity Read ↗

Strabismus genetics across a spectrum of eye misalignment disordersSemantic proximity Read ↗

Extreme Myopia Caused by Alport SyndromeSemantic proximity Read ↗

Neurofibromatosis Type 2-Related Eye Disease Correlated With Genetic Severity Type.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.