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Bilateral ocular malformations in a newborn with normal karyotype: histologic findings
Irene Pecorella1, Vincenzo Novacco, Stefano Dadalt
1Department of Experimental Medicine and Pathology and the Institute of Opththalmology, University La Sapienza, Rome, Italy.
Annals of Diagnostic Pathology
|October 12, 2002
Summary
Microphthalmos with cyst is a rare bilateral condition affecting otherwise healthy children. This report details a unique case with microscopic findings of ocular dysgenesis and an orbital cyst.
Area of Science:
- Ophthalmology
- Developmental Biology
- Medical Genetics
Background:
- Microphthalmos with cyst is a rare congenital ocular anomaly.
- It presents as a small eye with an inferior uveoretinal coloboma and a protruding orbital cyst.
- The cyst is lined by neuroectodermically derived tissue.
Observation:
- A case of isolated bilateral colobomatous and cystic microphthalmos in a healthy child is presented.
- The child had no detectable chromosomal abnormalities.
- Microscopic examination of the enucleated eye revealed significant ocular malformations.
Findings:
- Iris and retinal dysgenesis, ectopia lentis, and persistent pupillary membrane were observed.
- Intrachoroidal smooth muscle and optic nerve hypoplasia were noted.
- The orbital cyst featured an inner neuroectodermal lining and an outer fibroadipose and vascularized wall, separated by a membrane resembling the retinal inner limiting membrane.
Implications:
- This case expands the understanding of the spectrum of microphthalmos with cyst.
- It highlights the complex developmental anomalies associated with this condition.
- Further research may elucidate the specific genetic or developmental pathways involved.