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Table 1 RPE changes in patients with A3243G mtDNA point mutation and correlation with systemic disease

From: Macular dystrophy associated with the mitochondrial DNA A3243G mutation: pericentral pigment deposits or atrophy? Report of two cases and review of the literature

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%) - - -
  1. MIDD = maternally inherited diabetes and deafness; MELAS = mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes; DM = diabetes mellitus.