PMC8445719_01
Ophthalmological findings of a 74-year-old male patient at the first visit. The visual acuities in the right and left eyes were 20/100 and 20/200, respectively. (a) Fundus photographs and fundus autofluorescence of the patient showing an almost normal fundus. (b) Swept-source optical coherence tomography image showing obscuration of the interdigitation lines in both eyes. (c) The Goldmann visual field test, showing central scotoma in both eyes.
CRIOPM2021-6607441.001.jpg
PMC8445719_01_CRIOPM2021-6607441.001.jpg
fig1
Slit-lamp examination and fundus photography yielded normal results in both eyes (Figure 1(a)). Triton, Topcon Corp., Tokyo, Japan) showed loss of interdigitation lines in both eyes (Figure 1(b)). The Goldmann visual field test showed central scotoma in both eyes (Figure 1(c)).
Full-field electroretinogram (ERG) of the patient including the rod response, rod and cone mixed maximal response, and 30-Hz flicker response. Yellow, green and blue indicate the first, second, and third responses, respectively. Arrows in the maximal responses show negative-type ERGs in both eyes. Black indicates ERGs from a control eye without any retinal damage.
CRIOPM2021-6607441.002.jpg
PMC8445719_01_CRIOPM2021-6607441.002.jpg
fig2
The full-field ERGs recorded during the first visit are shown in Figure 2.
Western blot analysis of human TRPM1 antibody using serum from the patient with MAR. Red arrows indicate the hTRPM1-3xFlag protein bands.
CRIOPM2021-6607441.003.jpg
PMC8445719_01_CRIOPM2021-6607441.003.jpg
fig3
Because the autoantibodies against TRPM1 were positive in this patient's blood sample (Figure 3), he was diagnosed with MAR.
Ophthalmological findings of the patient 15 months after the initial visit. The visual acuities in the right and left eyes were 20/120 and 20/200, respectively. (a) Fundus photographs and fundus autofluorescence of the patient showing an almost normal fundus. (b) Optical coherence tomography image showing cyst-like lesions in the internal nuclear layer in both eyes. (c) The Goldmann visual field test, showing a slightly enlarged central scotoma in both eyes. (d) The negative-type waveform with reduced amplitude of the b-wave is unchanged in the maximal response of full-field electroretinogram.
CRIOPM2021-6607441.004.jpg
PMC8445719_01_CRIOPM2021-6607441.004.jpg
fig4
OCT demonstrated obscuration of the interdigitation lines and cystic changes in the internal nuclear layer (INL) in both eyes (Figures 4(a), 4(b)). ERG and Goldmann visual field test results in both eyes essentially remained unchanged for 15 months (Figures 4(c), 4(d)).