ABSTRACT

Background

Coats plus syndrome is a rare multisystem disorder, and is also a telomere-related disorder caused by CTC1 gene mutation. We reported ophthalmic findings in a Chinese child with genetically confirmed Coats plus syndrome.

Materials and Methods

The comprehensive ophthalmic findings were presented, as well as treatment history and systemic manifestations. In addition, genetic testing was performed to confirm the diagnosis.

Results

Examination under anesthesia showed notable retinal vasculopathy, including vascular tortuosity and dilation, abnormal vascular anastomosis, retinal telangiectasias and mild exudation, extensive peripheral avascularity, as well as the presence of retinal neovascularization. The patient developed vitreous hemorrhage and tractional retinal detachment, and then underwent vitrectomy. Meanwhile, the patient was noted to have growth retardation and leukoencephalopathy. Gene testing identified a compound heterozygous mutation in CTC1 gene: a novel splicing site mutation (c.33 + 1 G > T) and a deletion mutation (c.2954_2956del, p.C985del), which were inherited from his mother and father, respectively.

Conclusions

The present report expanded the genotype and phenotype spectrum of CTC1 gene associated with Coats plus syndrome.