PRESENTING AUTHOR

Coats Plus syndrome, also known as cerebroretinal microangiopathy with calcifications and cysts (CMCC), is a rare autosomal recessive disorder affecting the microvasculature in the retina, brain, bones, and gastrointestinal system. Unlike Coats disease, CMCC is bilateral and involves multiple organ systems. This report highlights the variable phenotypic expression of Coats Plus syndrome and emphasizes the need to consider this rare genetic disorder in the differential diagnosis of patients with atypical retinal pathology.

We describe two brothers with Coats Plus syndrome who exhibited variable phenotypic expressions. The younger sibling (Patient 1) was initially misdiagnosed with atypical retinopathy of prematurity and was only correctly diagnosed after his older brother (Patient 2) presented with a seizure and left upper extremity tremor at age four. Both patients were confirmed to have the CTC1 mutation associated with Coats Plus syndrome. Aggressive treatment with laser photocoagulation and intravitreal bevacizumab resulted in significant improvement in the retinal vascular and exudative changes in both siblings.

This case underscores the importance of considering Coats Plus syndrome in the differential diagnosis of atypical retinal pathology, such as Retinopathy of Prematurity, Familial Exudative Vitreoretinopathy, or Coats disease, especially when multiorgan abnormalities are present. The bilateral nature and systemic involvement distinguish Coats Plus from other similar conditions.

Coats Plus syndrome should be considered in patients with atypical retinal pathology and associated multiorgan abnormalities. Early recognition and management, including aggressive treatment when indicated, can lead to significant improvements. Genetic testing is crucial in similar cases to ensure accurate diagnosis and treatment.