Novel retinal findings in an infant with muscle-eye-brain disease

Area of Science:

• Ophthalmology
• Genetics
• Developmental Biology

Background:

• Muscle-eye-brain disease is a rare genetic disorder characterized by neuronal migration defects.
• Congenital retinal detachment is a severe condition that can lead to vision loss.
• Understanding the ocular manifestations of genetic disorders is crucial for early diagnosis and management.

Purpose of the Study:

• To report novel retinal findings in an infant diagnosed with muscle-eye-brain disease.
• To propose a new mechanism contributing to congenital retinal detachment in this condition.

Main Methods:

• A case report was utilized to describe the clinical presentation and findings.
• Ophthalmic examination and genetic testing were performed to confirm the diagnosis.

Main Results:

• The infant presented with total retinal detachment, peripheral retinal avascularity, and neovascularization in one eye.
• The other eye showed optic nerve hypoplasia and foveal dysplasia with peripheral avascularity.
• Genetic testing confirmed muscle-eye-brain disease, a disorder of aberrant neuronal migration.

Conclusions:

• This case highlights previously unreported retinal findings in muscle-eye-brain disease, including peripheral avascularity leading to retinal detachment and foveal dysplasia.
• Disordered retinal neuron migration and patterning are suggested as the cause of aberrant retinal vasculogenesis and detachment.