PMC8116265_01
Fundus photographs of patients with variants in AXTN7. A, B: Family 1 Case III:3 is a 54-year-old woman. The fundus shows obvious macular atrophy. C, D: Family 1 Case IV:5 is a 32-year-old man. The fundus also shows obvious macular atrophy. E, F: Family 2 Case II:1 is a 14-year-old girl. The fundus shows about two disc-sized atrophic lesions in a petal-like shape with surrounding pigment changes. G,
H: Fundus photographs taken during the second visit of Family 2 Case I:1 when he was 42 years old. The fundus shows a relatively normal appearance. I, J: Family 3 Case III:2 is a 32-year-old man. The fundus shows obvious macular atrophy.
mv-v27-221-f2.jpg
PMC8116265_02_mv-v27-221-f2.jpg
f2
The fundus showed macular atrophy with surrounding pigment changes (Figure 2C,D) similar to those of Case III:3.
AF in patients with variants in AXTN7. A, B: Family 1 Case III:3 is a 54-year-old woman. Autofluorescence (AF) shows a hypofluorescence patch in the macular area with a surrounding hyperfluorescent ring. C, D: AF was taken during the second visit of Family 2 Case II:1 when she was 18 years old. AF shows a dark macula and mottled fluorescence in the posterior pole. E, F. Family 3 Case III:2 is a 32-year-old man. AF shows a hypofluorescence patch in the macular area with a surrounding hyperfluorescent ring.
mv-v27-221-f3.jpg
PMC8116265_01_mv-v27-221-f3.jpg
f3
The fundus photography showed coarse granular depigmentation in the macular area (Figure 2A,B), which corresponded with a round hypofluorescence patch with a surrounding hyperfluorescent ring on FAF (Figure 3A,B).
Optical coherence tomography (OCT) of patients with variants in AXTN7. Family 1 Case III:3 (a 54-year-old woman; A-D), Family 2 Case II:1 (an 18-year-old girl during the second visit; E-H), and Family 3 Case III:2 (a 32-year-old man; 4 K-4N) have a similar appearance. Optical coherence tomography (OCT) shows thinning of the macula, with the outer layers and retinal pigment epithelium (RPE) affected more severely. The ellipsoid zone disappears in the fovea area, indicating the appearance of cone-rod dystrophy (CORD). There are many intraretinal hyperreflective dots, which are indicated by the yellow arrows. Panels C and D are enlargements of panels A and B, panels G and H are enlargements of panels E and F, and panels M and N are enlargements of panels K and L. Family 2 Case I:I (I and J) showed a normal OCT when he first consulted us at age 38.
mv-v27-221-f4.jpg
PMC8116265_01_mv-v27-221-f4.jpg
f4
A mild epiretinal membrane formed in the left eye (Figure 4A-D).
Photograph from the 633-nm laser of a scanning laser ophthalmoscope of patients with variants in AXTN7. A coarse granular appearance was observed in Family 1 Case III:3 (a 54-year-old woman, right eye; A) and Family 3 Case III:2 (a 32-year-old man, right eye; C). A coarse granular appearance was observed in both patients. Panels B and D are enlargements of panels A and C.
mv-v27-221-f5.jpg
PMC8116265_01_mv-v27-221-f5.jpg
f5
A coarse granular appearance of the macula was observed with the SLO (Figure 5A,B).
Standard ERGs in patients with variants in AXTN7. Representative rod, mixed cone-rod, and cone electroretinograms (ERGs) from the patients compared with a healthy subject.
mv-v27-221-f6.jpg
PMC8116265_01_mv-v27-221-f6.jpg
f6
The ERGs showed severely decreased cone responses and relatively normal rod function (Figure 6).
PMC8116265_02
Fundus photographs of patients with variants in AXTN7. A, B: Family 1 Case III:3 is a 54-year-old woman. The fundus shows obvious macular atrophy. C, D: Family 1 Case IV:5 is a 32-year-old man. The fundus also shows obvious macular atrophy. E, F: Family 2 Case II:1 is a 14-year-old girl. The fundus shows about two disc-sized atrophic lesions in a petal-like shape with surrounding pigment changes. G,
H: Fundus photographs taken during the second visit of Family 2 Case I:1 when he was 42 years old. The fundus shows a relatively normal appearance. I, J: Family 3 Case III:2 is a 32-year-old man. The fundus shows obvious macular atrophy.
mv-v27-221-f2.jpg
PMC8116265_02_mv-v27-221-f2.jpg
f2
The fundus showed macular atrophy with surrounding pigment changes (Figure 2C,D) similar to those of Case III:3.