Table 1.
Medical history and disease progression in the Case 1.
| Date | Relevant past medical history | |
|---|---|---|
| Spring 2007 | Episode of vomiting and dizziness, with vertigo and weight loss. CT normal, antidepressant drugs prescribed | |
| Summary from initial and follow-up visits | Interventions and therapy | |
| September 2007 | VA loss on the RE | Topical anti- glaucomatous medicine |
| October 2007 (three weeks after the onset of the right eye) | Presentation at Eye Hospital due to VA loss on the LE, Visual acuity RE 0.03, LE: 0.6 Color vision RE 1/15, LE 13/15, central scotoma bilaterally. On fundoscopy hyperemic optic disks, no vessel tortuosity,intraretinal hemorrhage at RE superior arcade. FA: no early leakage, some staining of the PNO in late phases. Delayed and decreased VEP P100 wave. Pattern ERG N95 wave at that time still in normal range | Systemic corticosteroid therapy for 3 days Solumedrol i.v. (1g/day), no improvement |
| October 2007 (4 weeks after the onset of the right eye) | LE visual acuity dropped to 0.3, RE 0.015 | Blood taken for genetic testing |
| December 2007 | Visual acuity 0.1 on both eyes. PERG N95 showed abnormal morphology and abnormal N95/P50 ratio on both eyes. VEP was severely reduced on both eyes and delayed on LE | |
| January 2008 (2.5 months after the onset on the left eye) | VA reached nadir of RLE 0.02 with color vision decrease to 0/15 and 1/15 | Genetic testing came back negative for three common mutations and NGS mtDNA |
| April 2011 | VEP was undetectable on RE and severely reduced on LE. The quality of PERG recording was poor (problems with fixation due to low VA), abnormal N95/P50 ratio was seen on the left eye | |
| January 2014 (seven years after the onset) | Slight visual function improvement RE 0.1, LE 0.03 with appearance of the small fenestrations in central scotoma of both eyes | |
| January 2021 | Patient reached stable 0.1 Snellen bilaterally 14 years after the onset | Blood taken for genetic testing. Clinical exome negative. After the discovery of the DNAJC 30 causative mutations the sample was retested |
| September 2021 (14 years after the onset) | Genetical confirmation of the arLHON | |