Article Type : Case Report
Title : Retinoblastoma Beyond Childhood: A Case Report and Literature Insights
Authors : Rajesh Pattebahadur
Abstract : Retinoblastoma is a rare malignancy in adults, primarily affecting children under five years of age. Adult-onset retinoblastoma is exceedingly uncommon and often presents diagnostic and therapeutic challenges due to its atypical clinical presentation. We report a case of a 32-year-old male presenting with progressive vision loss in the right eye, confirmed to have retinoblastoma after histopathological evaluation. This case underscores the importance of considering retinoblastoma in the differential diagnosis of intraocular tumors in adults. A literature review was conducted to summarize reported cases and current management strategies.
Introduction : Introduction
Retinoblastoma is the most common primary intraocular malignancy in children, with a peak incidence before the age of five. However, its occurrence in adults is rare, accounting for less than 1% of all retinoblastoma cases. Adult-onset retinoblastoma is often misdiagnosed due to its rarity and overlapping clinical features with other intraocular tumors such as melanoma, lymphoma, or metastatic lesions [1-4]. This report presents a rare case of adult-onset retinoblastoma and a literature review to provide insights into its clinical features, diagnostic challenges, and management.
Case Presentation : Clinical Presentation
A 32-year-old male presented to our ophthalmology clinic with complaints of progressive, painless vision loss in the right eye over six months. He denied any history of ocular trauma, prior eye disease, or systemic illness.
Examination
- Visual Acuity:Right eye: hand movements; Left eye: 20/20
- Slit-Lamp Examination:Normal anterior segment in both eyes.
- Fundus Examination (Right Eye):A large, white, elevated mass occupying the posterior pole with associated retinal detachment.
- Left Eye:Normal.
Investigations
- Histopathology:Examination of the tumor revealed small, round blue cells arranged in rosette patterns, characteristic of Flexner-Wintersteiner rosettes.
- Ultrasonography B-Scan:A well-defined intraocular mass with high reflectivity and calcifications.
- MRI of the Orbits: Heterogeneous enhancing mass in the posterior chamber of the right eye without extrascleral or optic nerve invasion.
- Fine-Needle Aspiration Biopsy (FNAB):Revealed small, round blue cells with hyperchromatic nuclei, consistent with retinoblastoma.
- Systemic Workup: No evidence of metastasis on PET-CT.
Discussion : Adult-onset retinoblastoma presents significant diagnostic challenges due to its rarity and lack of awareness. In contrast to pediatric cases, adult retinoblastoma often manifests with atypical features, including slower growth, absence of leukocoria, and misdiagnosis as other intraocular tumors [5-7].
Literature Review
A review of the literature revealed fewer than 50 documented cases of adult-onset retinoblastoma. Key findings include [8-10]:
1. Age at Diagnosis:Reported cases range from 20 to 79 years, with no clear gender predilection.
2. Clinical Presentation:Progressive vision loss is the most common symptom, followed by secondary glaucoma and retinal detachment.
3. Imaging Characteristics:Calcification remains a hallmark feature, aiding differentiation from melanoma.
4. Histopathology: Small, round blue cells with rosette formations (Flexner-Wintersteiner rosettes).
5. Management:Treatment options include enucleation, radiation therapy, and chemotherapy, tailored to tumor extent and systemic involvement.
6. Prognosis:Prognosis is generally favorable if diagnosed early and confined to the eye; however, delayed diagnosis can result in poor outcomes.
Comparison with Pediatric Retinoblastoma
Adult-onset retinoblastoma differs significantly from its pediatric counterpart in clinical behavior and progression. Pediatric cases often arise from germline mutations, whereas adult cases are typically sporadic [4].
Challenges in Diagnosis
Misdiagnosis is common, with cases often initially mistaken for melanoma, metastasis, or vitreoretinal lymphoma. Comprehensive imaging and histopathological analysis are crucial for accurate diagnosis [7].
This case highlights the rare occurrence of retinoblastoma in adults and emphasizes the need for heightened awareness among clinicians. Early recognition and appropriate management are critical to improving outcomes. Further studies are needed to establish standardized diagnostic and therapeutic guidelines for this rare entity.
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