SPOAN syndrome: a novel mutation and new ocular findings; a case report

SPOAN syndrome: a novel mutation and new ocular findings; a case report

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Abstract Background To report a novel mutation and new clinical findings in a case with SPOAN syndrome (spastic paraplegia, optic atrophy, neuropathy).Case presentation Clinical examination, genetic testing synovex one grass and electroretinography were used to study a 2-year-old child who was referred to our clinic with no visual attention and documented SPOAN syndrome.Fundoscopy revealed optic atrophy, diffuse retinal pigment mottling, severe vascular attenuation, and completely non-vascularized peripheral retina alarecre.com in both eyes.Full-field electroretinogram (ERG) revealed flat responses.

Conclusions Severe retinopathy and flat full-field ERG responses can occur in SPOAN syndrome.