코헨증후군에서의 안과적 소견

Ophthalmologic Findings in Cohen Syndrome

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.