Rev Bras Oftalmol.2025;84:e0102
Rothmund-Thomson syndrome and ophthalmologic alterations: a case report in childhood
DOI: 10.37039/1982.8551.20250102
ABSTRACT
Rothmund-Thomson Syndrome (RTS) is a rare congenital disorder with fewer than 300 cases reported in the literature, characterized by dermatological, skeletal, and ophthalmological abnormalities, as well as a predisposition to osteosarcoma. This study describes the ophthalmological findings of an 11-year-old patient diagnosed with RTS who was referred to the ophthalmology service due to decreased visual acuity. Based on a review of the scientific literature and analysis of the patient’s medical records, the case highlights the ocular manifestations associated with RTS and reinforces the importance of multidisciplinary follow-up to ensure early diagnosis, appropriate management, and improved visual outcomes.
