May 25, 2026 · Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus · DOI: 10.1016/j.jaapos.2026.104865

Posterior microphthalmia related to PRSS56 variants in a Saudi cohort: a longitudinal study of visual function

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The authors aimed to investigate the clinical, genetic, and long-term visual function characteristics of patients with posterior microphthalmia (PM) in a Saudi cohort. Their study revealed consistent PM features, stable best-corrected visual acuity over time, and identified pathogenic PRSS56 variants, emphasizing the importance of early diagnosis and genetic testing in managing this condition, particularly in consanguineous populations.

Faeeqah Almhmoudi, Abdulrahman Musaad Almatrafi, Waleed Talib Batais, Osama S Zamzami, Ahmed Saad Al Zomia, Abdulaziz Bamusa

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