title: Peripheral Avascular Retina in a Term Male Neonate With Microvillus Inclusion Disease and Pancreatic Insufficiency.
abstract: The authors present the first case of peripheral avascular retina in a term male neonate with pancreatic exocrine insufficiency, atypical microvillus inclusion disease, flat tympanograms, and recurrent urinary tract infections. Clinical examination showed avascular peripheral retina to posterior zone II temporally, with a flat stage 1-like demarcation line, and no plus disease. Genetic testing results were normal. The patient developed peripheral neovascularization and underwent panretinal photocoagulation. This case likely represents mild Norrie disease, familial exudative vitreoretinopathy, or incontinentia pigmenti due to a Wnt signaling abnormality. While these conditions are usually more severe, a variable spectrum of Wnt abnormalities exists throughout the body.
authors.forename: Yannis M
authors.initials: YM
authors.lastname: Paulus
authors.forename: Deborah M
authors.initials: DM
authors.lastname: Alcorn
authors.forename: Michael
authors.initials: M
authors.lastname: Gaynon
authors.forename: Darius M
authors.initials: DM
authors.lastname: Moshfeghi
mesh_terms: D001724:Birth Weight; D010188:Exocrine Pancreatic Insufficiency / Q000175:diagnosis*; D005451:Fluorescein Angiography; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D008286:Malabsorption Syndromes / Q000175:diagnosis*; D008297:Male; D008871:Microvilli / Q000473:pathology*; D009081:Mucolipidoses / Q000175:diagnosis*; D012164:Retinal Diseases / Q000175:diagnosis*; D012171:Retinal Vessels / Q000002:abnormalities*; D047929:Term Birth