-Case Reports-

Prenatal Detection of Peters' Plus Syndrome in a Patient with No Known Family History

Yoshio Shima¹ and Makoto Migita²

¹Department of Neonatal Medicine, Nippon Medical School Musashi Kosugi Hospital, Kanagawa, Japan
²Department of Pediatrics, Nippon Medical School Musashi Kosugi Hospital, Kanagawa, Japan

Peters' plus syndrome is a rare autosomal recessive condition characterized by a combination of typical ocular defects and other systemic abnormalities. We present a case of this uncommon syndrome that we diagnosed during a fetal ultrasonographical examination. Because the patient exhibited microcephaly and anterior staphyloma of the right eye and because impending rupture was feared, we performed ophthalmectomy during the neonatal period. Fetal ophthalmological anomalies are often detected during ultrasonographic examination targeting other systemic abnormalities, with positive family histories providing important diagnostic clues. This case is, to our knowledge, the first to be reported of prenatally diagnosed Peters' plus syndrome in a patient with no known family history in whom total blindness was prevented with an early referral to specialists.

J Nippon Med Sch 2016; 83: 130-132

Keywords
Peters' plus syndrome, prenatal diagnosis

Correspondence to
Yoshio Shima, MD, Department of Neonatal Medicine, Nippon Medical School Musashi Kosugi Hospital, 1-396 Kosugi-cho, Nakahara-ku, Kawasaki, Kanagawa 211-8533, Japan
shima-p@nms.ac.jp

Received, July 1, 2015
Accepted, February 3, 2016