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[Eye developmental defects in Patau's syndrome (trisomy 13)]
Oftalmologicheskii Zhurnal
|January 1, 1990
Summary
Patau syndrome (trisomy 13) frequently causes severe ocular malformations, including microphthalmia and cataracts. This study details the specific eye abnormalities observed in affected fetuses and newborns.
Area of Science:
- Ophthalmology
- Genetics
- Pathology
Context:
- Patau syndrome (trisomy 13) is a severe genetic disorder associated with multiple congenital anomalies.
- Ocular abnormalities are common but often under-documented in Patau syndrome.
- Pathomorphologic examination provides detailed insights into the spectrum of ocular defects.
Purpose:
- To analyze the pathomorphologic features of ocular malformations in fetuses and newborns with Patau syndrome.
- To identify the most frequent and characteristic ocular defects associated with trisomy 13.
Summary:
- A study of 28 fetuses and newborns with Patau syndrome revealed ocular malformations in 89% of cases.
- Common findings included microphthalmia, uveal colobomas, retinal dysplasia, persistent hyperplastic primary vitreous, cataracts, and lens luxation.
- These findings highlight the significant ocular impact of trisomy 13.
Impact:
- Provides detailed ocular pathology data for Patau syndrome.
- Aids in understanding the developmental mechanisms of ocular defects in trisomy 13.
- Informs genetic counseling and clinical management for families affected by Patau syndrome.