Journal article

PERIPHERAL RETINAL DRUSEN-LIKE DEPOSITS IN GUCY2C CONGENITAL SECRETORY DIARRHEA SYNDROME.

Dean Cugley, Nicholas Brislane, Robyn Guymer, Susan Carden

Retin Cases Brief Rep | Published : 2021

Abstract

PURPOSE: To report the presence of drusen in infancy, in a patient with Type 1 retinopathy of prematurity and a rare congenital sodium diarrhea secondary to a sporadic GUCY2C mutation. METHODS: A case report generated by review of clinical course, with imaging of 1 patient and literature review. RESULTS: A 1.075-kg infant born at gestation age 27 weeks was admitted to our institution with respiratory distress and secretory diarrhea. During screening for retinopathy of prematurity, peripheral drusen-like subretinal deposits were identified. There were no similar findings in either parent or family history of ocular pathologies. Their distribution is atypical for that seen in other causes of e..

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