Optical coherence tomography angiography of the peripapillary retina and optic nerve head in Wolfram syndrome

Abstract

PurposeTo evaluate the peripapillary and optic nerve head (ONH) microcirculation in patients affected by Wolfram syndrome and to correlate the results with the functional and anatomical conventional imaging: visual field (VF) and structural optical coherence tomography (OCT).MethodsThis study reports two cases of siblings with wolfram syndrome. They underwent a complete ophthalmological examination and an automated perimetry. A measure of peripapillary retinal nerve fiber layer (RNFL) thickness using a Swept‐ Source OCT was performed. Optical coherence tomography angiography (OCT‐A) images were obtained using a Swept‐Source DRI OCT Triton (Topcon Corporation, Japan). The scan size of optic disc area was 6 mm × 6 mm and he was divided into four layers, which were optic nerve head (ONH), vitreous, radial peripapillary capillary (RPC), and choroid layers. Peripapillary and nerve head vessels density were evaluated.ResultsThe first case is a 57 years old female patient with a history of diabetes insipidus and deafness, suffering from bilateral progressive visual loss. On fundoscopic examination, she had bilateral optic atrophy. Her visual acuity was reduced to 0.4 on both eyes. Her visual fields demonstrated generalized constriction. There was a family history of similar conditions. Her brother, a 46 years old male has a similar course of disease. The two patients had sectorial (temporal and inferior) optic atrophy based on the RNFL thinning detected by OCT. OCT‐A scans showed a decrease of the vascular network in the ONH and in the RPC layers corresponding to the sector of RNFL thinning.ConclusionsPeripapillary and optic nerve head temporal and inferior microvascular network were reduced in Wolfram patients. These findings confirm the preferential involvement of the small axons of the papillomacular bundle in dominant optic atrophy.