Ophthalmologic Findings in Cohen Syndrome.

Park, Chang Hyun; Choi, Kyung Seek; Lee, Dong Hwan

Case Report

Journal of the Korean Ophthalmological Society 2006;47(4):672-677.
Published online April 30, 2006.

Ophthalmologic Findings in Cohen Syndrome.

Chang Hyun Park, Kyung Seek Choi, Dong Hwan Lee

¹Department of Ophthalmology, Soonchunhyang University, College of Medicine, Seoul, Korea. ckseek@hosp.sch.ac.kr
²Department of Pediatrics, Soonchunhyang University, College of Medicine, Seoul, Korea.

코헨증후군에서의 안과적 소견

박창현¹,최경식¹,이동환²

Department of Ophthalmology, Soonchunhyang University, College of Medicine¹, Seoul, Korea Department of Pediatrics, Soonchunhyang University, College of Medicine², Seoul, Korea

Correspondence: Chang Hyun Park, M.D.¹

Abstract

PURPOSE
We report two cases of Cohen syndrome associated with ophthalmologic findings, which is the first such report from Korea. METHODS: A 14-year-old boy and a 13-year-old girl, a brother and sister, who had visited the department of pediatrics for evaluation of developmental disorders was transferred to the department of ophthalmology due to evidence of nyctalopia and decreased visual acuity. There, refraction, ultrasonography, and fundus examinations were performed. RESULTS: The children had high myopia, and refractive astigmatism. Bull's eye maculopathy with a pale disc was found on the fundus examination. There were characteristic facial appearances including wave-shaped, down-slanting palpebral fissures and short philtrum. They also had grimacing expressions upon smiling. Neutropenia was identified in the female patient. CONCLUSIONS: Cohen syndrome should be suspected and considered in the differential diagnosis of patients with high myopia, nyctalopia, and decreased visual acuity.

Key Words: Bull's eye maculopathy;Cohen syndrome;Myopia