Workshop 22

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AAPOS Genetic Task Force Workshop: Does This Patient Have a Genetic Eye Disease? Should I Refer?

Arlene V. Drack; Brian P. Brooks; Deborah M. Costakos; Natario L. Couser; Elias I. Traboulsi; Alex V. Levin; Christopher Lloyd; Virginia Miraldi Utz; Melanie A. Schmitt; Debroah Alcorn; Elise Heon; Mary C. Whitman
AAPOS Genetic Eye Disorder Task Force

Purpose/Relevance: Recent molecular genetic advances, including FDA approval of the first gene therapy for an inherited retinal disorder, RPE65 LCA,  compel pediatric ophthalmologists to take increasing responsibility for accurately identifying, counseling or referring patients with genetic eye diseases. Understanding the role of genetic testing and interpretation of results is complex and updated guidelines are needed.

Target Audience: Pediatric ophthalmologists, residents and fellows

Current Practice: Pediatric ophthalmologists have varying levels of experience with evaluating genetic eye diseases. Many are concerned that during a busy clinic, a patient with underlying genetic disease identifiable by testing and amenable to treatment could be missed. For others, their confidence in management may not reflect the current standard of care.

Best Practice: Establishing pathways for coordination of care with a genetic eye disease specialist, genetic counselor or medical geneticist is vital. Understanding benefits and limitations of genetic diagnostic testing in relation to clinical phenotype helps to ensure correct diagnosis, counseling, and prompt referral for clinical trial enrollment or treatment interventions.

Expected Outcomes: (1) Clinicians will develop a systematic approach to identify patients with genetic eye disorders. (2) Clinicians will be able to devise pathways for comprehensive care, including differentiating between disorders appropriate for work-up by pediatric ophthalmologists versus those which require referral.

Format: Case-based presentations that focus on algorithms for specific categories of genetic eye disorders, for example, work-up or refer patients who have: Coloboma? Congenital nystagmus?  Early-onset cataract? Poor vision in infancy?  Multi-systemic disorders? Early-onset high myopia? Atypical strabismus? Optic nerve anomalies?  Congenital glaucoma?  Photophobia?

Summary: In a rapidly changing field, it is essential that clinicians utilize algorithms to confidently provide the best care for patients with genetic eye disorders.

References: Stone EW, Aldave AJ, Drack AV, MAccumber MW, Sheffield VC, Traboulsi E, Weleber al., Recommendations for Genetic Testing of Inherited Eye Diseases. Ophthalmology 2012;119:2408–2410.

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