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DYRK1A retinopathy.

Louis Cai¹, Taku Wakabayashi¹, Yoshihiro Yonekawa¹

¹Wills Eye Hospital, Mid Atlantic Retina, Thomas Jefferson University, Philadelphia, Pennsylvania.

Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus

|February 3, 2023

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This study details retinopathy in a child with DYRK1A syndrome, revealing anomalous retinal vasculature. Early detection and laser treatment are crucial for managing this rare condition and preventing vision loss.

Area of Science:

Ophthalmology
Genetics
Pediatrics

Background:

DYRK1A syndrome is a rare genetic disorder associated with intellectual disability and distinctive facial features.
Retinopathy has not been previously well-characterized in individuals with DYRK1A syndrome.

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