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Atypical Peters' anomaly associated with partial trisomy 5p
A Dichtl1, J B Jonas, G O Naumann
1Department of Ophthalmology and Eye Hospital, Friedrich-Alexander-University, Erlangen, Germany.
Insights
This study reports a case of atypical Peters anomaly in a child with partial trisomy 5p. Genetic evaluation is recommended for children diagnosed with Peters anomaly to identify potential chromosomal abnormalities.
Area of Science:
- Ophthalmology
- Genetics
- Developmental Biology
Background:
- Peters' anomaly is a rare congenital corneal defect.
- Partial trisomy 5p is a chromosomal abnormality.
- The association between Peters' anomaly and chromosomal disorders is increasingly recognized.
Observation:
- An 11-week-old infant presented with bilateral corneal opacities and iridocorneal adhesions.
- The infant was diagnosed with multiple developmental malformations and partial trisomy 5p.
- The corneal opacities extended centrally to the paralimbal region.
Findings:
- The case highlights an atypical presentation of Peters' anomaly.
- A strong association was observed between Peters' anomaly and partial trisomy 5p.
- Partial trisomy 5p can manifest with ocular abnormalities.
Implications:
- Genetic evaluation, including chromosomal analysis, is crucial for children with Peters' anomaly.
- Early diagnosis of partial trisomy 5p can guide clinical management and genetic counseling.
- This case expands the understanding of the phenotypic spectrum of partial trisomy 5p.
Purpose:
We examined a child who had atypical Peters' anomaly and partial trisomy 5p.
Methods:
An 11-week-old female infant with multiple developmental malformations and a partial trisomy 5p had bilateral corneal opacities extending from the center of the cornea to the paralimbal region and bilateral iridocorneal adhesions in the areas of the corneal opacities.
Results:
In addition to association with several other chromosomal disorders, Peters' anomaly may be associated with partial trisomy 5p.
Conclusions:
Since partial trisomy 5p can be diagnosed by genetic evaluation, a chromosomal analysis should be performed for children with Peters' anomaly.