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Persistent hyperplastic primary vitreous in male twins

Y S Yu¹, B L Chang

¹Department of Ophthalmology, Seoul National University Children's Hospital, Korea.

Korean Journal of Ophthalmology : KJO

|March 25, 1998

Summary

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Persistent hyperplastic primary vitreous (PHPV) in male twins, unassociated with other anomalies, suggests autosomal recessive inheritance. This rare condition required surgical intervention for glaucoma and amblyopia treatment.

Area of Science:

Ophthalmology
Medical Genetics

Background:

Persistent hyperplastic primary vitreous (PHPV) is a rare congenital eye disorder.
PHPV typically occurs sporadically, with limited reports of familial cases.

Observation:

This study details two male twins diagnosed with PHPV.
Notably, these cases presented without other congenital anomalies.

Findings:

One twin required a lensectomy to manage angle-closure glaucoma.
The other twin received treatment for amblyopia.

Implications:

These twin cases offer additional support for autosomal recessive inheritance of PHPV.
While genetic factors are suggested, the possibility of a sporadic developmental error remains.

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