title: Bilateral persistent hyperplastic primary vitreous: an Egyptian family supporting a rare autosomal dominant inheritance.
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 not associated with other diseases. Normal developmental milestones were reported. Family pedigree analysis revealed a similarly affected father, grandfather, 2 aunts, 1 paternal uncle and a grand uncle with 2 affected daughters. On examination the height, weight and skull circumference were on the 5th percentile. Bilateral B&A eye scan ultrasonography (B mode is two dimensional brightness mode ultrasonography, while A mode is one dimensional where echoes are represented by spikes of variable amplitude and timing) of both the patient and the father revealed a picture suggestive of persistent hyperplastic primary vitreous. Cytogenetics study by conventional culture technique using the CTG banding technique revealed a normal male karyotype 46, XY for both of them. Review of the 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 not associated with other anomalies.
authors: Department of Ophthalmogenetics, Research Institute of Ophthalmology, Cairo, Egypt. nassaram@hotmail.com
authors: A H
authors: AH
authors: Galal
authors: A I S
authors: AI
authors: Kotoury
authors: A A
authors: AA
authors: Azzab
mesh_terms: D002675:Child, Preschool; D025063:Chromosome Disorders / Q000235:genetics*; D003241:Consanguinity; D004534:Egypt; D006801:Humans; D006965:Hyperplasia / Q000473:pathology; D008297:Male; D010375:Pedigree; D014463:Ultrasonography; D014822:Vitreous Body / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology*