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Peripapillar retinal hamartoma associated with tuberous sclerosis. Case report
F Hernández Pardines1, S Núñez Márquez1, L Fernández Montalvo1
1Hospital Universitario San Juan, San Juan (Alicante), España.
Archivos De La Sociedad Espanola De Oftalmologia
|June 1, 2017
Summary
Tuberous sclerosis can cause aggressive, unilateral retinal hamartomas (astrocytomas) in rare cases. Early multidisciplinary management and genetic counseling are crucial for patients with this rare genetic disease.
Area of Science:
- Ophthalmology
- Genetics
- Oncology
Background:
- Tuberous sclerosis is a rare autosomal dominant genetic disorder affecting multiple organ systems.
- Retinal hamartomas (astrocytomas) are uncommon but can exhibit aggressive progression in tuberous sclerosis patients.
Observation:
- A 31-year-old male presented with blurred vision due to a unilateral retinal hamartoma.
- The patient had no prior history of ophthalmic or systemic conditions, indicating undiagnosed tuberous sclerosis.
Findings:
- The case highlights a rare instance of aggressive, unilateral retinal hamartoma secondary to undiagnosed tuberous sclerosis.
- Tumor size is directly correlated with potential complications.
Implications:
- Multidisciplinary care involving Internal Medicine, Ophthalmology, and Oncology is essential.
- Genetic counseling is recommended for affected individuals and their families.
- Current treatments do not appear to alter the disease's natural progression.
