Korean J Ophthalmol.  2005 Jun;19(2):112-115. 10.3341/kjo.2005.19.2.112.

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

• Park UC
• Choung HK
• Kim SJ
• Yu YS

• KMID: 754407
• DOI: http://doi.org/10.3341/kjo.2005.19.2.112

Abstract

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.

Keyword

Corneal opacity; Homozygous protein C deficiency; Retinal dysplasia; Secondary glaucoma

MeSH Terms

Anterior Chamber/ultrasonography
Cataract/etiology
Female
Glaucoma/*etiology
*Homozygote
Humans
Infant, Newborn
Lens, Crystalline/surgery
Protein C Deficiency/*complications/*genetics
Retinal Diseases/*etiology

Figure

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  Fig. 1 Preoperative photograph of the left eye (A) and B-scan ultrasonography of the left eye on day 41 (B) : Corneal opacity and shallow anterior chamber were caused by pupillary block angle closure glaucoma secondary to vitreoretinopathy, which suggested retinal dysplasia. Arrowheads indicate the artifact.

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  Fig. 2 Postoperative photograph of both eyes at 14 months old, 1 year after bilateral lensectomy: The right eye (A) shows clear cornea and deep anterior chamber, but the left eye (B) shows newly developed band keratopathy with remaining corneal opacity.

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