RESUMEN
PURPOSE: To describe a case of hereditary spastic ataxia (HSP) presenting with childhood optic nerve atrophy and report a novel homozygous variant in the SPG7 gene. OBSERVATIONS: A 57-year-old man suffering from progressive optic nerve atrophy since childhood eventually underwent genetic testing. A targeted whole exome gene sequencing panel for optic neuropathy identified a novel homozygous variant in the SPG7 gene, c.2T > G, p.(Met?), which likely abolished production of paraplegin, an inner mitochondrial membrane protein. Subsequent neurologic examination revealed subtle signs of spastic paraplegia and ataxia in keeping with the genetic diagnosis of SPG7. CONCLUSION AND IMPORTANCE: Spastic paraplegia 7 (SPG7) is an autosomal recessive form of the neurodegenerative disorder HSP. Pure HSP is characterized by spastic paraparesis in the lower limbs, whereas complicated HSP presents additional neurological manifestations. This case report adds to the evidence that SPG7 can present with childhood optic nerve atrophy, preceding the characteristic SPG7 manifestations. SPG7 should be considered in the workup of suspected hereditary optic neuropathy.
RESUMEN
Alport syndrome is associated with various ocular phenotypic features, including several retinal manifestations. The purpose of this case report was to describe a case of multiple vitelliform lesions in Alport syndrome. This particular finding has, to our knowledge, not been reported previously. A 63-year-old man with known Alport syndrome presented with symptomatic, bilateral anterior lenticonus. Fundoscopic examination revealed multiple vitelliform lesions, which were symmetrically distributed at the posterior poles. Additional retinal findings included an irregular foveal contour and central macular thinning in both eyes, as well as a multilayered retinoschisis in the left eye. The underlying pathophysiology of the vitelliform lesions may be a dysfunctional Bruch's membrane.