Table 2.

Aetiology and clinical results of patients with DNAJC30-associated LHON

	No. of patients/mean or median (range)	Percentage of documented cases (%)
Average age of onset, years (range)	18.5 (9.5–45.1)	NA
Female	5	14.3
Origin
Central European	30	85.7
Eastern-Europe	2	5.7
Turkey	2	5.7
Arabia	1	2.8
Follow-up, weeks (range)	246 (3–1291)	NA
Presentation
Bilateral*	28	100
Unilateral*	0	0
Onset
Bilateral*	8	40
Unilateral*	12	60
Onset of subsequential eye*, weeks (n, range)	Median 3.5 (10, range 1–17)	NA
Initial papillary hyperaemia
Absent*	5	29.4
Present*	12	70.6
Initial peripapillary microangiopathy
Absent*	1	5.9
Present*	16	94.1
Papillary atrophy
Absent*	2	8.3
Present*	22	91.7
Temporal quadrant	15	68.2
Global quadrant	2	8.3
Fraction not specified	5	20.8
Visual field defects
Central and cecocentral*	28	96.6
Others*	1	3.4
Colour vision disturbance
Absent*	2	12.5
Unspecific*	11	68.8
Protan/Deutan*	1	6.3
Tritan*	2	12.5
Median VA
At nadir (n, range)	1.3 (37, 1.9–0.7)	NA
Of all patients at last visit (n, range)	0.5 (42, 1.9–0)	NA
Of CRR patients at last visit (n, range)	0.15 (18, 0.8–0)	NA
Of non-CRR patients at last visit (n, range)	1.0 (20, 1.9–0.2)	NA
Interval onset—nadir*, weeks (n, range)	7.5 (12, 2–28)	NA
CRR
Absent*	11	55
Present*	9	45
Interval onset—CRR*, months (n, range)	19 (9, 1–58)	NA

VA is given in logMAR. All individual eyes were included in the calculation of the median VA. CRR was defined as an increase of at least 0.2 logMAR.

*Clinical parameters which were not available from all patients. Therefore, the sum of patients in the different parameter categories is <35.

CRR, clinically relevant recovery; LHON, Leber's hereditary optic neuropathy; NA, not available; VA, visual acuity.