Table 2.
Clinical data of study participants
| Individual (Sex) | Lab ID | Age at first diagnosis (y) | Age at most recent diagnostic exam (y) |
Visual acuity |
Fundus |
FF-ERGa |
FAF | OCT | Diagnosis | ||
|---|---|---|---|---|---|---|---|---|---|---|---|
| OD | OS | Scotopic | Photopic | ||||||||
| 1-1 (F) | R1124 | 25 | 50 | 6/60 | 6/60 | macular atrophy | a-wave WNR, b-wave MiR | MiR | complete hypoautofluorescence extending to the arcades, surrounded by hyperautofluorescent speckled changes | complete RPE and outer retinal atrophy, surrounded by focal RPE irregularities | MD with CD |
| 2-1 (M) | D1804026 | 14 | 23 | 6/40 | 6/30 | macular atrophy | a- and b-wave MiR | MiR | foveolar hyperautofluorescence surrounded by mottled hypo-autofluorescence with hyperautofluorescent border | foveal thinning due to outer retinal atrophy; temporal peripapillary retinal nerve fiber layer thinning | MD with CD |
| 2-2 (M) | D2309613 | 51 | 51 | 6/10 | 6/6 | maculopathy | a- and b-wave MR | MR | foveolar hyper- and hypo-autofluorescent rings and strongly hyperautofluorescent linear lesions of the parafovea | foveal thinning due to outer nuclear layer thinning; irregular ellipsoid zone and RPE thickenings; normal peripapillary nerve fiber layer thickness | MD with CD |
| 3-1 (F) | GC22085 | 49 | 57 | 6/24 | 6/6 | maculopathy | WNR | WNR | central speckled hyperautofluorescence (pattern-like) | central outer retinal disruption with intraretinal hyperreflective deposits (OD), perifoveal outer retinal disruption (OS), thickening of the RPE and ellipsoid zone (OU) | MD without CD |
| 4-1 (F) | GC28331.1 | 35 | 38 | 6/75 | 6/60 | macular atrophy | WNR | a-wave WNR, b-wave MiR | central ring of mottled hypoautofluorescence, surrounded by a hyperautofluorescent ring | central outer retinal loss (OU) | MD with CD |
| 4-2 (M) | GC28331.2 | 26 | 29 | 6/12 | 6/18 | macular atrophy | WNR | a-wave WNR, b-wave MiR | central ring of mottled hypoautofluorescence, surrounded by a hyperautofluorescent ring | central outer retinal loss (OU) | MD with CD |
| 5-1 (F) | D2112274 | 42 | 50 | 6/15 | 6/15 | maculopathy | WNR | WNR | central mottled hypoautofluorescence surrounded by a hyperautofluorescent rim in both eyes, few hyperautofluorescent speckles in the right eye | irregularity of the ellipsoid zone and focal thickening of the RPE, with small hyperreflective linear lesions migrating above the external limiting membrane | MD without CD |
| 6-1 (F) | CHlaus0429 | 37 | 39 | 6/6 | 6/7.5 (SE -0.5 diopters) | macular atrophy | WNR | MiR | central mottled hypoautofluorescence with few hyperautofluorescent speckles, surrounded by a hyperautofluorescent rim in both eyes | irregularity of the ellipsoid zone and focal thickening of the RPE, with small hyperreflective linear lesions migrating above the external limiting membrane | MD with CD |
F, female; M, male; FAF, fundus autofluorescence; MD, macular dystrophy; CD, cone dysfunction; FAF, fundus autofluorescence; ND, not done; OCT, optical coherence tomography; OD, right eye; OS, left eye; OU, both eyes; RPE, retinal pigmented epithelium; y, years.
a
FF-ERG, full-field electroretinogram; WNR, within normal range; MiR, mildly reduced; MR, moderately reduced.