[Familial exudative vitreoretinopathy simulating Coats disease: case report]

Area of Science:

• Ophthalmology
• Medical Genetics

Background:

• Familial exudative vitreoretinopathy (FEVR) is a rare, inherited retinal disorder.
• It can present with symptoms mimicking other conditions like Coats disease, complicating diagnosis.

Observation:

• A 7-year-old male presented with progressive vision loss in his left eye.
• Ocular examination revealed corneal and pupillary abnormalities in the right eye, and retinal vascular issues with vitreous traction in the left eye.
• Imaging confirmed retinal detachment and microphthalmia in the right eye.

Findings:

• The patient was diagnosed with familial exudative vitreoretinopathy (FEVR), an autosomal dominant condition.
• Diagnostic imaging, including CT, MRI, and ultrasonography, ruled out other neurological or orbital abnormalities.
• The condition was initially suspected to be Coats disease due to overlapping clinical features.

Implications:

• Prompt diagnosis of FEVR is essential for appropriate management.
• Diode laser photocoagulation in the affected eye's periphery demonstrated efficacy in treating vitreoretinal traction.
• Understanding FEVR's genetic basis and presentation is vital for ophthalmologists managing pediatric retinal diseases.