Bilateral retinal dysplasia and secondary glaucoma associated with homozygous protein C deficiency.
OBJECTIVE
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.
Department of Ophthalmology, Seoul National University Children's Hospital, Seoul, Korea.
Un Chul
UC
Park
Ho Kyung
HK
Choung
Seong Joon
SJ
Kim
Young Suk
YS
Yu
D000867:Anterior Chamber / Q000000981:diagnostic imaging; D002386:Cataract / Q000209:etiology; D005260:Female; D005901:Glaucoma / Q000209:etiology*; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D007908:Lens, Crystalline / Q000601:surgery; D020151:Protein C Deficiency / Q000150:complications* / Q000235:genetics*; D012164:Retinal Diseases / Q000209:etiology*; D014463:Ultrasonography