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

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.

Progressive visual loss and severe retinal degeneration in a captive Kodiak bear (Ursus arctos mittendorfi)

A 27-year-old female Kodiak bear displayed signs of progressive visual loss over an 18-year period. The bear was examined under general anaesthesia, where fixed mydriatic pupils, a diffusely hyper-reflective retina with vascular attenuation was observed. An electroretinogram was performed bilaterally, revealing no electrical activity associated with either retina and confirming a diagnosis of severe bilateral retinal degeneration. The bear was euthanased eight months later due to a diagnosis of a metastasised hepatic neoplasm. Histopathology of the bear’s eyes revealed marked outer layer retinal degeneration. The aetiology of this retinal degeneration could not be confirmed.