J Korean Ophthalmol Soc.
2006 Apr;47(4):672-677.
Ophthalmologic Findings in Cohen Syndrome
- Affiliations
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- 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.
Abstract
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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.
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