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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.
Insights
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.
Abstract:
The authors report a 15-month-old white male and his 30-year-old mother who both have persistent hyperplastic primary vitreous (PHPV) unassociated with other congenital anomalies. Although there are two previous reports of PHPV in siblings suggesting autosomal recessive inheritance, this is the first report compatible with autosomal dominant inheritance.