Table 2.

Medical history and disease progression in the Case 2.

	Summary from initial and follow-up visits	Interventions and therapy
August 2009	Simultaneous VA loss on the RLE
September 2009 (three weeks after the onset of the right eye)	Presentation at Eye Hospital due to bilateral VA loss, Visual acuity RE 0.2, LE: 0.15 Color vision RE 15/15, LE 15/15, central scotoma bilaterally. On fundoscopy circumpapillary telangiectatic microangiopathy, swelling of the retinal nerve fiber layer (RNFL). FA: no leakage, EF: decreased N95 wave and delayed and decreased VEP P100	Systemic corticosteroid therapy for 3 days Solumedrol i.v. (1g/day), no improvement. MRI of the head and brain, no signs of demyelination, Aqp4 negative, excluded all other possible causes (infectious, paraneoplastic, compressive, etc.) Blood taken for genetic testing
February 2010 (five months after the onset)	LE visual acuity dropped to nadir RLE 0.02, color vision RE 0/15, LE 1/15, enlargement of the visual field scotoma, amplitude of the N95 decreased, VEP P100 delayed and decreased	Genetic testing for three common mutations and NGS mtDNA negative
November 2010 (14 months after the onset on the left eye)	Improvement of the visual function VA RLE 0.2 with color vision decrease to 0/15 and 1/15, multiple fenestrations in visual field scotoma
January 2013 (4.5 years after the onset)	Visual acuity reached final level of improvement RLE 0.7, Color vision improvement RLE 15/15, multiple fenestrations in central scotoma of both eyes
January 2017	VA RLE 0.7, Color vision RLE 15/15, Normal N95 amplitude, but abnormal shape, VEP latency improved, but still prolonged with normal amplitude. Even more fenestrations within visual field scotoma	Blood taken for genetic testing. Clinical exome negative. After the discovery of the DNAJC 30 causative mutations the sample was retested and DNAJC 30 mutation 152 A>G (p.Tyr51Cys) was identified
September 2021	Genetical confirmation of the arLHON