Coats Plus Syndrome in a Premature Infant, With a Focus on Management

Area of Science:

• Ophthalmology
• Genetics
• Pediatrics

Background:

• Coats plus syndrome is a rare genetic disorder.
• It is characterized by retinovascular ischemia, capillary remodeling, aneurysmal dilation, and exudative retinal detachment.
• Pathogenic variants in the CTC1 gene are associated with Coats plus syndrome.

Observation:

• A premature infant born at 30 weeks gestational age presented with symptoms suggestive of Coats plus syndrome.
• Ophthalmic examination revealed exudative retinal detachment in one eye and avascularity with telangiectasias and aneurysmal dilations in the other.
• Genetic evaluation confirmed biallelic heterozygous pathogenic CTC1 variants.

Findings:

• The infant was diagnosed with Coats plus syndrome based on genetic findings.
• Despite initial treatment with photocoagulation, retinal ischemia progressed.
• Sequential examinations under anesthesia with fluorescein angiography documented progressive ischemia.

Implications:

• Early genetic diagnosis of Coats plus syndrome is crucial for appropriate management.
• A combination of systemic/local corticosteroids and laser ablation effectively reduced vascular exudation.
• This multimodal approach helped avoid more invasive intraocular interventions.