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Published on: September 20, 2018
Chronic granulomatous disease presenting as retinal mass
Ahmad M Mansour1, Mays Al Dairy, Rola Hamam
1Department of Ophthalmology, American University of Beirut, POB 113-6044, Beirut, Lebanon. dr.ahmad@cyberia.net.lb.
Cases Journal
|October 23, 2008
Summary
Chronic granulomatous disease can present with retinal inflammatory masses and vision loss in children. Early recognition of fundus findings is crucial for diagnosing this rare genetic immune disorder.
Area of Science:
- Ophthalmology
- Immunology
- Genetics
Background:
- Children with fever of unknown origin may present with ocular inflammatory conditions.
- Ocular findings can be the initial presentation of systemic immune deficiencies.
- Differentiating inflammatory retinal masses from malignancies or infections is clinically challenging.
Purpose of the Study:
- To highlight the ocular manifestations of chronic granulomatous disease (CGD).
- To emphasize the importance of fundus examination in diagnosing CGD.
- To differentiate CGD from other pediatric retinal diseases.
Main Methods:
- Case report of a pediatric patient with fever of unknown origin and retinal inflammatory mass.
- Funduscopy and retinal biopsy for histopathological examination.
- Review of family history and clinical course, including recurrent infections.
Main Results:
- A 1-year-old girl presented with a juxtapapillary retinal inflammatory mass.
- Retinal biopsy revealed necrotizing granulomatous retinitis.
- Affected siblings and cousin had nystagmus, poor vision, and recurrent infections, consistent with CGD.
Conclusions:
- Chronic granulomatous disease should be considered in the differential diagnosis of pediatric retinal inflammatory masses.
- Characteristic fundus findings can aid in the early diagnosis of CGD.
- Prompt diagnosis of CGD is essential for managing recurrent infections and improving outcomes.
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