Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus۲۰۲۵گزارش موردنمایه شده در PubMed
Nitya Raghu, Hennaav Kaur Dhillon
چکیده
We report 3 siblings born to consanguineous parents who presented with visual loss secondary to bilateral optic atrophy, along with consistent systemic features, such as dysmorphic facies, sensorineural hearing loss, skeletal anomalies, and global developmental delay. Imaging revealed severe optic…
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DOI: 10.1016/j.jaapos.2025.104699