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Trisomy 4q with morning glory disc anomaly
P Nucci1, M B Mets, E B Gabianelli
1Department of Ophthalmology, University of Milan, Scientific Institute S. Raffaele Hospital, Italy.
Ophthalmic Paediatrics and Genetics
|June 1, 1990
Summary
This study reports a rare case of trisomy 4q, a genetic disorder, associated with a unilateral morning glory disc anomaly, an unusual eye condition. This finding expands the known spectrum of ocular manifestations in trisomy 4q syndrome.
Area of Science:
- Genetics
- Ophthalmology
- Medical Case Reports
Background:
- Trisomy 4q is a rare chromosomal abnormality with variable clinical features.
- Ocular manifestations are reported in some cases of trisomy 4q, but are not fully characterized.
- The morning glory disc anomaly is a rare congenital abnormality of the optic nerve.
Observation:
- A case of trisomy 4q is presented with a unilateral morning glory disc anomaly.
- This specific ocular manifestation has not been previously reported in association with trisomy 4q.
- The patient's clinical presentation and diagnostic findings are detailed.
Findings:
- The case establishes a novel association between trisomy 4q and the morning glory disc anomaly.
- A review of previously documented ocular involvements in trisomy 4q cases is provided.
- This finding contributes to the understanding of the phenotypic variability of trisomy 4q.
Implications:
- This report expands the differential diagnosis for morning glory disc anomaly.
- It highlights the importance of comprehensive ophthalmologic examination in patients with trisomy 4q.
- Further research may elucidate the underlying mechanisms connecting this chromosomal abnormality and ocular development.