NOVEL RETINAL FINDINGS IN AN INFANT WITH MUSCLE–EYE–BRAIN DISEASE

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Abstract
Purpose To describe novel retinal findings in an infant with muscle–eye–brain disease and suggest a novel mechanism for congenital retinal detachment. Methods Case report. Results A 7-week-old, white, female infant presented with total retinal detachment, peripheral retinal avascularity, and neovascularization of the right eye. In the left eye, there was hypoplastic optic nerve, no identifiable foveal avascular zone, and a small area of avascularity in the temporal peripheral retina. Genetic testing ultimately confirmed the diagnosis of muscle–eye–brain disease, a disorder of aberrant neuronal migration. Conclusion This case describes retinal findings that, to our knowledge, have not been reported in previous cases of muscle–eye–brain disease: peripheral avascularity, leading to retinal detachment in one eye, and foveal dysplasia. It is speculated that aberrant retinal vasculogenesis arose from disordered migration and patterning of retinal neurons.