Further genetic testing revealed CTC1 gene mutation and she was diagnosed with Coats plus syndrome with features of dyskeratosis congenita, a telomere biology disorder.<h4>Conclusion and importance</h4>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. The gene discussed is CTC1; the disease is dyskeratosis congenita.