Table 1.
The mutational spectrum of probands harbouring mtDNA and OPA1 mutations.
Fig 1.
Comparison of the onset age, visual acuity and RNFL thickness in the DOA and LHON (LHON-A and LHON-SP) groups.
(A) Comparison of the onset ages of the DOA, LHON-A and LHON-SP: (a) DOA at preschool age; (b) LHON-A and LHON-SP groups at school age; (c) the onset age of DOA was statistically younger than LHON-A (P < 0.001) and LHON-SP (P < 0.001). * The onset age of DOA was earlier than patients with LHON-A (P < 0.001) and LHON-SP (P < 0.001). (B) Comparison of the visual acuity among DOA, LHON-A and LHON-SP: (a) The visual acuity of LHON-A was worse than LHON-SP; (b) The visual acuity of DOA was significantly better than LHON-A and LHON-SP. * The visual acuity of patients with OPA1 mutations was significantly better than patients with LHON-A and LHON-SP (P < 0.001). (C) Comparison of RNFL thickness in four quadrants among patients with OPA1 mutations, LHON-A, LHON-SP and controls using one-way ANOVA: (a) The RNFL was thinner in all four quadrants of DOA. (b) The RNFL thickness of LHON-A group was statistically thicker in superior and inferior quadrants, but there were no obvious differences in the temporal and nasal quadrants. (c) The RNFL thickness of LHON-SP was significantly thinner in the temporal quadrant, but there were no significant differences in the other three quadrants. DOA: patients with OPA1 mutations; LHON-A: patients with LHON presented with optic edema or hypaeremia with tortuous vessels. LHON-SP: patients with LHON presented with optic pallor or atrophy.
Fig 2.
Fundus manifestations of patients with DOA and LHON.
(A-F) LHON-A (edema of optic nerve) patients manifested as: (A) bilateral optic nerve edema without telangiectatic vessels; (B) bilateral optic nerve hyperaemia with telangiectatic vessels and microvascular tortuosity (C) temporal optic pallor with vascular tortuosity in both eyes; (D) temporal optic pallor with microvascular tortuosity in the right eye and optic nerve hyperaemia with telangiectatic vessels in left eye. LHON-SP manifested as: (E) temporal optic atrophy without changes in the vessels in both eyes; (F) diffused atrophy of the optic disk in both eyes. (G-H) The manifestations of DOA (G-H) were similar to LHON-SP with temporal optic atrophy (E, G) or diffused optic pallor (F, H). The patients IDs and mutations are located above the fundus images.
Table 2.
Summary of the mutations in OPA1 and OPA3.