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Microphthalmos, orbital cyst, and missing thumbs: A rare case report.
Tayyab Afghani1, Hassan Mansoor1, Waseem Shehzad1
1Department of Orbit and Oculoplastics, Al-Shifa Trust Eye Hospital, Rawalpindi, Pakistan.
Oman Journal of Ophthalmology
|February 24, 2016
Summary
This case report details the first instance of an orbital cyst in a patient with Fanconi anemia (FA), a rare genetic disorder. Early recognition of FA is crucial in infants presenting with congenital microphthalmos and limb abnormalities.
Area of Science:
- Genetics
- Ophthalmology
- Pediatrics
Background:
- Fanconi anemia (FA) is a rare autosomal recessive disorder characterized by progressive bone marrow failure, congenital abnormalities, and increased cancer risk.
- Ocular manifestations in FA are uncommon, with microphthalmos being a rare finding.
Observation:
- A 5-month-old female infant presented with a right orbital cyst obscuring a microphthalmic eye, bilateral thumb hypoplasia, and unilateral renal and radial agenesis.
- Hematological tests were normal, but chromosomal analysis suggested FA.
- The orbital cyst was surgically removed for histopathological examination.
Findings:
- This is the first reported case of an orbital cyst associated with microphthalmos in a patient diagnosed with Fanconi anemia.
- Histopathology of the excised cyst is pending.
Implications:
- This case highlights the importance of considering Fanconi anemia in infants with congenital microphthalmos and limb anomalies, even with normal initial hematological findings.
- Ophthalmologists should be aware of potential FA diagnosis in such cases to ensure timely intervention and genetic counseling.
- Early diagnosis of FA is critical for managing bone marrow failure and cancer risks.
