Egyptian study of a rare autosomal dominant bilateral persistent hyperplastic primary vitreous

ABSTRACT

Persistent hyperplastic primary vitreous [PHPV] is an idiopathic congenital malformation confined to the eye that has no obvious cause and that is usually unilateral and sporadic. The clinical features of the classic PHPV syndrome include white, vascularized tissue covering some or all of the posterior surface of the lens; centrally dragged ciliary processes; secondary glaucoma caused by swelling of the lens or caused by contracture of the retrolental tissue, with anterior shifting of the lens-iris diaphragm; extensive intravitrael hemorrhaging; persistence of the hyaloid artery; and occasionally retinal detachment. In the present study we describe a patient with bilateral PHPV unassociated with other diseases. A normal milestone of development was reported. Family pedigree analysis revealed similarly affected father, grandfather, 2 aunts, 1 uncle from paternal side, also a grand uncle with 2 affected daughters. On examination; height, weight, skull circumference were in 5[th] percentile. Bilateral B and A eye scan ultrasonography for both the patient and the father revealed picture suggestive of persistent hyperplastic primary vitreous. Cytogenetics study by conventional culture technique using CTG banding technique revealed normal male karyotype [46, XY] for both of them. Review of London Dysmorphology Data Base [LDDB], OMIM, and recent medical literature revealed that this case to our knowledge represents the second report supporting autosomal dominant inheritance of PHPV unassociated with other anomalies