PMC6798706_01
Pedigrees of four families affected by dominant optic atrophy (DOA)-plus disease. The proband is indicated by an arrow. Wt refers to the wild-type of the OPA1 gene.
mv-v25-559-f1.jpg
PMC6798706_04_mv-v25-559-f1.jpg
f1
His father had both visual and hearing impairments before age 20, but he died at age 68 without undergoing detailed ophthalmological examination (Figure 1).
PMC6798706_02
Pedigrees of four families affected by dominant optic atrophy (DOA)-plus disease. The proband is indicated by an arrow. Wt refers to the wild-type of the OPA1 gene.
mv-v25-559-f1.jpg
PMC6798706_04_mv-v25-559-f1.jpg
f1
His father had both visual and hearing impairments before age 20, but he died at age 68 without undergoing detailed ophthalmological examination (Figure 1).
Results of Goldmann visual field tests. Central and paracentral scotomas, and the enlargement of Marriott's blind spots were present in all DOA-plus cases.
mv-v25-559-f2.jpg
PMC6798706_04_mv-v25-559-f2.jpg
f2
Goldmann visual field tests revealed central and paracentral scotomas bilaterally (Figure 2).
Optical coherence tomographic (OCT) images along the horizontal meridian. An example of a normal 19-year-old woman is shown at the bottom. In all cases, a thinning of the nerve fiber layer (NFL) and ganglion cell layer (GCL) was observed between the optic disc and the fovea (asterisk).
mv-v25-559-f4.jpg
PMC6798706_02_mv-v25-559-f4.jpg
f4
OCT showed a thinning of the NFL and GCL between the optic disc and the fovea, but micro retinal cysts were not observed (Figure 4).
PMC6798706_03
Pedigrees of four families affected by dominant optic atrophy (DOA)-plus disease. The proband is indicated by an arrow. Wt refers to the wild-type of the OPA1 gene.
mv-v25-559-f1.jpg
PMC6798706_04_mv-v25-559-f1.jpg
f1
His father had both visual and hearing impairments before age 20, but he died at age 68 without undergoing detailed ophthalmological examination (Figure 1).
Results of Goldmann visual field tests. Central and paracentral scotomas, and the enlargement of Marriott's blind spots were present in all DOA-plus cases.
mv-v25-559-f2.jpg
PMC6798706_04_mv-v25-559-f2.jpg
f2
Goldmann visual field tests revealed central and paracentral scotomas bilaterally (Figure 2).
Fundus photographs of the four DOA-plus patients with enlarged optic discs in the left columns. Diffuse or temporal pallor of the optic disc was present in all cases.
mv-v25-559-f3.jpg
PMC6798706_04_mv-v25-559-f3.jpg
f3
OCT showed a thinning of the NFL and GCL between the optic disc and the fovea, but micro retinal cysts were not observed (Figure 3).
PMC6798706_04
Pedigrees of four families affected by dominant optic atrophy (DOA)-plus disease. The proband is indicated by an arrow. Wt refers to the wild-type of the OPA1 gene.
mv-v25-559-f1.jpg
PMC6798706_04_mv-v25-559-f1.jpg
f1
His father had both visual and hearing impairments before age 20, but he died at age 68 without undergoing detailed ophthalmological examination (Figure 1).
Results of Goldmann visual field tests. Central and paracentral scotomas, and the enlargement of Marriott's blind spots were present in all DOA-plus cases.
mv-v25-559-f2.jpg
PMC6798706_04_mv-v25-559-f2.jpg
f2
Goldmann visual field tests revealed central and paracentral scotomas bilaterally (Figure 2).
Fundus photographs of the four DOA-plus patients with enlarged optic discs in the left columns. Diffuse or temporal pallor of the optic disc was present in all cases.
mv-v25-559-f3.jpg
PMC6798706_04_mv-v25-559-f3.jpg
f3
OCT showed a thinning of the NFL and GCL between the optic disc and the fovea, but micro retinal cysts were not observed (Figure 3).