Sclerochoroidal Calcification in Hepatocyte Nuclear Factor-1β Deficiency Syndrome: A Novel Association

Abstract

Purpose: To describe a previously unreported association between sclerochoroidal calcification and hepatocyte nuclear factor-1β deficiency syndrome. Methods: A single case was reviewed. Results: A 66-year-old man with a history of diabetes mellitus, chronic kidney disease, renal cysts, and prior prostate cancer was found to have bilateral superotemporal placoid sclerochoroidal lesions during routine follow-up. Fundus autofluorescence demonstrated corresponding hyperautofluorescent foci, and optical coherence tomography revealed hyperreflective scleral elevations with posterior shadowing and focal ellipsoid zone disruption. Previous genetic testing identified a pathogenic hepatocyte nuclear factor-1β stop codon variant. The lesions remained stable over 2 years, without evidence of choroidal neovascularization. Conclusions: This case broadens the spectrum of systemic associations with bilateral sclerochoroidal calcification and suggests hepatocyte nuclear factor-1β deficiency syndrome as a potential underlying etiology in patients presenting with bilateral sclerochoroidal calcification and concurrent renal or metabolic abnormalities.