Skip to main content
Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

Fig. 1

a Severe bilateral optic atrophy on direct funduscopic examination. b Optical coherence tomography (OCT) reveals relatively thinning of the inner retinal layers suggestive of optic atrophy of those neuronal elements. Outer retinal layers (OPL, ONL) are less affected. RPE = retinal pigmented epithelium; ONL = outer nuclear layer; OPL = outer plexiform layer, RNFL = retinal nerve fiber layer; GCL = ganglion cell layer; IPL inner plexiform layer

Back to article page

Orphanet Journal of Rare Diseases

ISSN: 1750-1172