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