Coats plus syndrome with new observation of drusenoid retinal pigment epithelial detachments in a teenager

• Published in: American journal of ophthalmology case reports Vol. 28; p. 101713
• Main Authors: Agrawal, Kushal U., Kalafatis, Nicholas E., Shields, Carol L.
• Format: Journal Article
• Language: English
• Published: Elsevier 01.12.2022
• Subjects: Case Report; Coats plus syndrome; CTC1 gene; Dyskeratosis congenita; Pigment epithelial detachment; Telomere biology disorder
• ISSN: 2451-9936; 2451-9936
• DOI: 10.1016/j.ajoc.2022.101713

Purpose: To describe a case of Coats Plus Syndrome (CPS), a vision and life threatening disease belonging to a family of diseases known as the Telomere Biology Disorders. Observations: A 15-year-old girl with a history of small for gestational age, short stature, microcephaly, thinning/greying of scalp hair, skin hyperpigmentation, nail ridging, and multiple pathological fractures presented with bilateral Coats-like retinopathy. We discovered a new observation of multiple peripheral pinpoint retinal pigment epithelial detachments (PEDs). Further genetic testing revealed CTC1 gene mutation and she was diagnosed with Coats plus syndrome with features of dyskeratosis congenita, a telomere biology disorder. Conclusion and importance: Patients with bilateral Coats-like retinopathy and associated systemic features suggestive of CPS should be evaluated through genetic testing to diagnose this disease and treat vision and life threatening manifestations as early as possible. In this report, we also document, for the first time, multiple pinpoint PEDs that could be related to an accelerated aging process with telomere dysfunction.