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SPOAN syndrome: a novel mutation and new ocular findings; a case report
Fatemeh Bazvand1, Mohammad Keramatipour2, Hamid Riazi-Esfahani1
1Farabi eye hospital, Eye research center, Tehran University of Medical Science, Farabi Eye Hospital, Qazvin square, South Kargar Street, Tehran, Iran.
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 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 in both eyes. Full-field electroretinogram (ERG) revealed flat responses.
Conclusions:
Severe retinopathy and flat full-field ERG responses can occur in SPOAN syndrome.
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