Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus · 2026
Ophthalmic phenotype and strabismus surgery in Angelman syndrome: genotype-specific risks and uniform surgical efficacy.
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Xu Kai, Chen Xin, Li Xinyue, Lu Zupeng, Zhou Xiaoting, Fang Wangyi, Du Xiaodong, Shahraki Kourosh, Suh Donny W, Qiao Tong
Аннотация
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 [n = 27]) and nondeletion (UBE3A mutations/UPD15pat/imprinting defects [n = 13]). Outcomes included refractive errors, iris hypopigmentation (novel grading on a scale of 0-4 adapted from albinism criteria), and surgical efficacy.
RESULTS: High astigmatism (≥2.00 DC) was significantly more prevalent in deletion patients (54% vs 19% [P = 0.004]). High myopia (> -6.00 D) occurred exclusively in deletion patients (n = 2). Severe iris hypopigmentation (grades 3-4) was unique to the deletion subgroup (33% vs. 0%; P = 0.013), linked to OCA2 codeletion. Surgical success (exodeviation ≤8Δ/esodeviation ≤5Δ at 1 year) was comparable (70% vs 77%; P > 0.05), with minimal exodrift (deletion, -14.9Δ; nondeletion, -12.3Δ) and no reoperations.
CONCLUSIONS: The 15q11.2-q13 deletions confer a distinct oculoalbinism phenotype mediated by OCA2 haploinsufficiency, featuring high myopia, severe astigmatism, and iris hypopigmentation. Standardized strabismus surgery achieves stable alignment across genotypes, supporting genotype-guided refractive surveillance and validating exotropia correction as an effective AS intervention.
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 [n = 27]) and nondeletion (UBE3A mutations/UPD15pat/imprinting defects [n = 13]). Outcomes included refractive errors, iris hypopigmentation (novel grading on a scale of 0-4 adapted from albinism criteria), and surgical efficacy.
RESULTS: High astigmatism (≥2.00 DC) was significantly more prevalent in deletion patients (54% vs 19% [P = 0.004]). High myopia (> -6.00 D) occurred exclusively in deletion patients (n = 2). Severe iris hypopigmentation (grades 3-4) was unique to the deletion subgroup (33% vs. 0%; P = 0.013), linked to OCA2 codeletion. Surgical success (exodeviation ≤8Δ/esodeviation ≤5Δ at 1 year) was comparable (70% vs 77%; P > 0.05), with minimal exodrift (deletion, -14.9Δ; nondeletion, -12.3Δ) and no reoperations.
CONCLUSIONS: The 15q11.2-q13 deletions confer a distinct oculoalbinism phenotype mediated by OCA2 haploinsufficiency, featuring high myopia, severe astigmatism, and iris hypopigmentation. Standardized strabismus surgery achieves stable alignment across genotypes, supporting genotype-guided refractive surveillance and validating exotropia correction as an effective AS intervention.