Article in Japanese

A case of 22q11.2 duplication syndrome with chorioretinal defects due to congenital cytomegalovirus infection

Chihiro Kawakami^1）, Aya Okahashi^1）, Yuki Sato^1）, Hidetoshi Go^1）, Takayuki Imaizumi^1）, Kazumasa Fuwa^1）, Midori Hijikata^1）, Nobuhiko Nagano^1）, Ichiro Morioka^1）

This study reports the case of a newborn with congenital cytomegalovirus infection with rare ocular complications including posterior scleral calcifications and a chorioretinal defect （coloboma） in the macular region. Postnatal examinations revealed central nervous system impairment and mild hearing loss, leading to a diagnosis of symptomatic congenital cytomegalovirus infection. Treatment with valganciclovir was initiated. Following treatment, the newborn’s hearing improved, but ocular findings remained unchanged and were considered fixed lesions. Tests performed to differentiate the cause of the macular choroidal defect revealed 22q11.2 duplication syndrome. The association between 22q11.2 duplication syndrome and the ocular lesions seemed unlikely, thus concluding this case as highly likely to represent necrotizing cytomegalovirus retinitis with calcification. This report presents a valuable case illustrating the clinical significance of specific ocular lesions in congenital cytomegalovirus infection and the difficulty in determining the appropriate treatment criteria.

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1）Department of Pediatrics and Child Health, Nihon University School of Medicine

Key words	congenital cytomegalovirus infection, chorioretinal defect, intraocular calcification, 22q11.2 duplication syndrome
Received	October 18, 2025
Accepted	February 11, 2026

38 (1)：33─39,2026