Table 1 RPE changes in patients with A3243G mtDNA point mutation and correlation with systemic disease
Authors | Total number of patients | Systemic phenotype | Mean age (years) | Sex ratio (F/M) | Number of patients with RPE changes (%) | Correlation of RPE changes with: | ||
|---|---|---|---|---|---|---|---|---|
Systemic disease | Age | Hetero-plasmy | ||||||
Laat et al. [8] | 29 | 24: MIDD | 46 | 20/9 | 25 (86%) | No | Yes | No |
4: MELAS | ||||||||
1: Cardiopathy | ||||||||
Latvala et al. [16] | 26 | 7: MIDD | 44 | 21/5 | 10 (38%) | Yes | - | Yes |
10: DM | ||||||||
12: Hearing loss | ||||||||
Massin et al. [6] | 38 | 35: MIDD (33: DM) | 49 | 22/13 | 31 (81.6%) | No | No | - |
3: MELAS | 46 | 0/3 | ||||||
Smith et al. [5] | 13 | MIDD | 49 | 9/4 | 10 (77%) | No | No | - |
Sue et al. [3] | 14 | MELAS | 42 | 8/6 | 8 (57%) | - | - | - |