Bilateral Retinal Dysplasia and Secondary Glaucoma Associated with Homozygous Protein C Deficiency

• 발행기관: 대한안과학회
• 저자명: Un Chul Park Ho Kyung Choung Seong Joon Kim Young Suk Yu
• 간행물 정보: 『The Korean Journal of Ophthalmology』Vol.19 No.2, 112~115쪽, 전체 4쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2005.06.30

영문 초록

Purpose: Protein C deficiency is an autosomal recessive disorder, which predisposes the patient to potentially blinding and widespread lethal thromboembolic complications, especially in the homozygous type. We here report the first Korean case of ophthalmic involvement and its surgical treatment in homozygous protein C deficiency. Methods: A 3.4kg, full term girl was born by normal delivery but showed bilateral leukocoria on day 2. Laboratory results disclosed a very low protein C activity level (10%) in the patient and moderately decreased levels in the other family members. Ophthalmic examination showed bilateral corneal opacity and shallow anterior chamber. B-scan ultrasonography which showed intravitreal mass lesions without microphthalmos and a funnel-shaped retinal detachment suggested bilateral retinal dysplasia. Results: As the eyes were under progression of secondary glaucoma, bilateral lensectomies were performed at 2 months old and corneal opacity was regressed to some degree. However, at 14 months old, the left eye showed moderate corneal opacity with a band keratopathy. Conclusions: Although visual outcome was very poor after surgery, we could impede or slow down the progression of secondary glaucoma and save the eyeballs in the infant with homozygous protein C deficiency. Korean Journal of Ophthalmology 19(2):112-115, 2005

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Case Report

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키워드

Corneal opacity Homozygous protein C deficiency Retinal dysplasia Secondary glaucoma