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Persistent hyperplastic primary vitreous with vertical transmission.

A E Lin1, A W Biglan, K L Garver

  • 1Department of Medical Genetics, West Penn Hospital, Pittsburgh, PA 15224.

Ophthalmic Paediatrics and Genetics
|June 1, 1990
PubMed
Summary
This summary is machine-generated.

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This study presents a mother and son with persistent hyperplastic primary vitreous (PHPV), a rare eye condition. Their case suggests a potential autosomal dominant inheritance pattern for PHPV, differing from previous sibling reports.

Area of Science:

  • Ophthalmology
  • Medical Genetics

Background:

  • Persistent hyperplastic primary vitreous (PHPV) is a congenital developmental anomaly of the eye.
  • Previous familial cases of PHPV have suggested autosomal recessive inheritance.

Purpose of the Study:

  • To report a familial case of PHPV.
  • To investigate the inheritance pattern of PHPV.

Main Methods:

  • Clinical case report.
  • Review of existing literature on PHPV inheritance.

Main Results:

  • A 15-month-old male and his mother were diagnosed with PHPV without other congenital anomalies.
  • This mother-son presentation is inconsistent with autosomal recessive inheritance.

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Conclusions:

  • The reported familial PHPV case is compatible with autosomal dominant inheritance.
  • This finding expands the understanding of PHPV's genetic basis.