253 Genetic eye disorders in children: five practice pearls

Virginia Miraldi Utz; Elias Traboulsi; Arif Khan; Jennifer Rossen; Alex Levin; Jose Cijin Puthussery; Gerald Zaidman; Emily McCourt; Alina Dumitrescu; Laryssa Huryn; Giulia Steuernagel Del Valle

doi:10.1016/j.jaapos.2026.105166

Purpose/Relevance Genetic eye disorders constitute a significant proportion of pediatric ophthalmology practices. While advances in molecular diagnosis and therapies are accelerating, many clinicians feel underprepared to recognize systemic associations, order and interpret genetic testing, and counsel families. A 2024 survey found that over 90% of pediatric ophthalmologists desired education on clinical trials and referral pathways. This workshop uses case-based scenarios to highlight practical skills in caring for patients with suspected or confirmed genetic eye disorders. Target Audience Pediatric ophthalmologists, comprehensive ophthalmologists, and trainees. Current Practice Clinicians frequently encounter patients with inherited ocular and systemic conditions, but often feel uncertain about optimal patient work-up, providing anticipatory guidance to patients, and the referral pathways for treatment or clinical trials. Best Practice Through interactive illustrative cases, this workshop emphasizes: (1) Recognizing systemic disease clues from the ocular findings and imaging, (2) Learning high-yield, validated resources on ophthalmic manifestations of genetic syndromes (3) Collaborating with genetics specialists for genetic testing and interpretation, (4) Delivering results with empathy, realism and hope, and (5) Navigating both clinical trial and treatment referral pathways. Expected Outcomes Attendees will gain confidence in diagnosing and managing patients with genetic eye disorders through illustrative cases that highlight clinical pearls and best practices. Attendees will strengthen their understanding of referral standards for genetic counseling and testing, delivering difficult news while connecting families to support, treatment, and research opportunities. Format Case-based workshop with multimodal imaging, molecular case resolution, panel discussion of best practices, and referral algorithms. Summary This session will enhance the pediatric ophthalmologist’s knowledge in the field of ophthalmic genetics, utilizing practical, case-based strategies to manage patients with genetic eye disorders. Attendees will learn to recognize systemic associations, gain a deeper understanding of genetic testing processes, counsel families with a balance of hope and realism, and navigate the evolving treatment and clinical trial landscape.

253 Genetic eye disorders in children: five practice pearls

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