Coats Plus Syndrome Presenting in an Adult

Fae B Kayarian; Steven M Cohen; Mark L Cohen; Daniel E Sammartino

doi:10.1177/24741264231171465

Coats Plus Syndrome Presenting in an Adult

J Vitreoretin Dis. 2023 May 8;7(6):562-564. doi: 10.1177/24741264231171465. eCollection 2023 Nov-Dec.

Authors

Fae B Kayarian¹, Steven M Cohen^{2

3}, Mark L Cohen⁴, Daniel E Sammartino⁵

Affiliations

¹ Rush Medical College of Rush University Medical Center, Chicago, IL, USA.
² University of South Florida, Tampa, FL, USA.
³ Retina Vitreous Associates of Florida, Clearwater, FL, USA.
⁴ National Prion Disease Pathology Surveillance Center, Case Western Reserve University, University Hospitals Cleveland Medical Center, Cleveland, OH, USA.
⁵ Oncology & Hematology of White Plains, White Plains, NY, USA.

Abstract

Purpose: To present a case of retinal vascular disease characterized primarily by capillary nonperfusion in an adult with Coats plus syndrome (CPS). Methods: A case and its findings were analyzed. Results: A 38-year-old woman with a history of poliosis, thrombocytopenia, seizures, and white-matter brain lesions was referred for evaluation of bilateral blurred central vision. Fluorescein angiography showed extensive bilateral retinal capillary nonperfusion with retinal arteriolitis in the right eye. Genetic testing found 2 pathological mutations in the conserved telomere maintenance component 1 (CTC1) gene, diagnostic of CPS. Conclusions: Genetic testing may be diagnostic in patients who present with retinal vascular disease and systemic disease suggestive of CPS.

Keywords: CTC1; Coats plus syndrome; capillary nonperfusion; cerebroretinal microangiopathy with calcifications and cysts; leukodystrophy; retina; retinal telangiectasia exudates; retinal vascular disease.

Publication types

Case Reports