Coats Plus Syndrome - Madeline Hay - 2025 04 11 скачать в хорошем качестве

Coats Plus Syndrome - Madeline Hay - 2025 04 11

In this unique case presentation, Dr. Madeline Hay presents a rare adult diagnosis of Coats Plus Syndrome in a 38-year-old woman with longstanding systemic and neurologic abnormalities. The patient’s findings included optic nerve pallor, telangiectatic retinal vessels with capillary nonperfusion, and a history of seizures, poliosis, anemia, thrombocytopenia, pulmonary fibrosis, and a non-neoplastic brain lesion. Multimodal imaging and systemic evaluation pointed to the diagnosis of Coats Plus Syndrome—a telomere biology disorder caused by mutations in the CTC1 gene, classically presenting with intracranial calcifications, leukodystrophy, and retinal vascular anomalies. The presentation highlights the importance of suspecting Coats Plus in patients with bilateral retinal telangiectasias and systemic abnormalities, especially when findings mimic more common pediatric retinal disorders like ROP or FEVR. The discussion reviews the genetic pathophysiology, clinical features, diagnostic challenges, and management strategies for this rare condition, including the role of anti-VEGF, laser therapy, and multidisciplinary systemic care. This case was published in the *Journal of VitreoRetinal Diseases*: *Kayarian FB, Cohen SM, Cohen ML, Sammartino DE. Coats plus syndrome presenting in an adult. J Vitreoretin Dis. 2023;7(6):562–564.* Available at: [https://www.ncbi.nlm.nih.gov/pmc/arti...](https://www.ncbi.nlm.nih.gov/pmc/arti...)