Document Type

Article

Publication Date

9-21-2022

Comments

This is the author's final published version in the American Journal of Ophthalmology Case Reports, Volume 28, Dec. 2022, Article number 101713.

The published version is available at https://doi.org/10.1016/j.ajoc.2022.101713. Copyright © 2022 The Authors. Published by Elsevier Inc.

Abstract

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.

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Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.

Language

English

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