We present a case of retinopathy in a 4-year-old girl with DYRK1A syndrome. On external examination, she had short stature, cognitive delay, microcephaly, and iris coloboma of the right eye. On fundus examination of both eyes, she was found to have lattice degeneration and areas of avascularity in the retinal periphery, with overlying hyaloidal organization. Widefield fluorescein angiography showed vascular pruning and vascular arborization with leakage. Given the risk for progression to retinal detachment, laser photocoagulation was applied to areas of peripheral avascular retina. To our knowledge, this is the first detailed phenotypic analysis of anomalous retinal vasculature in this syndrome.
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DYRK1A retinopathy.
J AAPOS
April 2023
Pediatric Ophthalmology and Strabismus Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania. Electronic address:
We present a case of retinopathy in a 4-year-old girl with DYRK1A syndrome. On external examination, she had short stature, cognitive delay, microcephaly, and iris coloboma of the right eye. On fundus examination of both eyes, she was found to have lattice degeneration and areas of avascularity in the retinal periphery, with overlying hyaloidal organization.
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Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
Background: DYRK1A-Related Intellectual Disability Syndrome is a rare autosomal dominant condition characterized by intellectual disability, speech and language delays, microcephaly, facial dysmorphism, and feeding difficulties. Affected individuals represent simplex cases that result from de novo heterozygous pathogenic variants in DYRK1A (OMIM 614104), or chromosomal structural rearrangements involving the DYRK1A locus. Due to the rarity of DYRK1A-Related Intellectual Disability Syndrome, the spectrum of symptoms associated with this disease has not been completely defined.
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