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. 2022 Apr 4;107(8):1202–1208. doi: 10.1136/bjophthalmol-2020-318192

Table 1.

An overview of phenotypical characteristics associated with recruited probands, and the foveal morphology description of their biological parents

Probands Parents
Best-corrected VA Foveal hypoplasia6 7
ID Gender Age
(at examination)
BE RE LE VA test Nystagmus Iris transillumination
defect2
VEP Foveal hypoplasia6 7 Mother Father
1 M 5 0.275 0.45 0.275 Crowded Kay Pictures Present Grade 1 NT Grade 1a Grade 1a N
2 F 4 0.85 0.85 0.95 Crowded Keeler Present Grade 4 Misrouting Grade 3 N N
3 F 15 0.18 0.18 0.18 Crowded Keeler Present Grade 2 Misrouting Grade 2 N NT
4 M 5 0.625 0.75 0.825 Crowded Kay Pictures Present Grade 3 Misrouting Grade 3 Grade 1b N
5 F 21 0.6 0.78 0.6 Crowded Keeler Present Grade 3 Misrouting Grade 4 N NT
6 F 22 0.6 0.78 0.6 Crowded Keeler Present Grade 2 Misrouting Grade 3 N Grade 1a
7 F 13 0.34 0.4 0.4 Crowded Keeler Present Grade 2 NT Grade 4 N N
8 M 13 0.6 0.64 0.74 Crowded Keeler Present Grade 2 Misrouting Grade 3 N NT
9 M 22 0.48 0.6 0.48 Crowded Keeler Present Grade 3 NT Grade 3 NT N
10 M 24 0.48 0.6 0.6 Crowded Keeler Present Grade 3 Misrouting Grade 3 Grade 1a N
11 M 5 0.9 0.085 0.9 Crowded Kay Pictures Present Grade 3 Inconclusive Grade 3 Grade 1b N
12 F 10 1.2 1.2 1.28 Crowded Keeler Present Grade 3 Misrouting Grade 4 Grade 1a N
13 F 4 0.7 0.8 0.75 Crowded Kay Pictures Present Grade 4 NT Grade 3 Grade 1a N
14 F 3 0.6 NT NT Crowded Kay Pictures Present Grade 1 Inconclusive Grade 4 N Grade 1a
15 M 9 0.78 0.78 0.78 Crowded Keeler Present Grade 2 NT Grade 4 N N
16 M 3 0.55 0.7 0.575 Crowded Kay Pictures Present Grade 2 NT Grade 3 Grade 1a N

BE, both eyes; F, female; LE, left eye; M, male; N, normal; NT, not tested; RE, right eye; VA, visual acuity in logMAR; VEP, visual evoked potentia.