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Table 1 Genotypes and phenotypes of this Chinese family

From: A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family

Patient ID Sex/Age Nystagmus BCBVA(A/C) Strabismus C/Dratio
(OD/OS)
DM/DD
(OD/OS)
Type AHP Affected
III:1 M/41 N N/0 N NA NA - N No
III:2 F/40 N N/0 N NA NA Heterozygous N No
III:3 F/35 N N/0 N NA NA - N No
III:4 M/37 PPFS 0.2/0.4 N 0.50/0.58 3.91/3.75 Hemizygous TR10 Yes
III:5 F/36 N N/0 N NA NA Heterozygous N No
III:6 M/38 N N/0 N NA NA - N No
IV:1 M/10 Bdj 0.4/0.4 N 0.27/0.36 2.45/2.17 Hemizygous N Yes
IV:2 F/6 Bdj 0.2/0.3 N 0.28/0.31 2.73/2.50 Heterozygous TL30 Yes
IV:3 F/10 Bdj 0.2/0.3 N 0.16/0.33 2.46/2.05 Heterozygous CU25 Yes
IV:4 M/7 N N/0 N NA NA - N No
IV:5 M/12 J,jef,bdj 0.3/0.4 N 0.5/0.42 1.53/1.87 Hemizygous TR15 Yes
IV:6 M/7 Bdj 0.2/0.4 N 0.38/0.33 2.88/2.22 Hemizygous CU20 Yes
IV:7 F/6 N N/0 N NA NA - NA No
  1. BCBVA Binocular corrective best visual acuity. (LogMAR), A/C visual acuity of AHP/head straight, C/D ration cup-to-disc ratio, DM/DD ration disc–macula distance to disc diameter ratio, TR Face turn right, TL Face turn left, CU chin-up, CD chin-down, PPFS pseudo-pendular nystagmus with foveating saccades, Bdj bidirectional jerk, J pure jerk nystagmus, Jef jerk nystagmus with extended foveation, N normal, NA not available, F female, M male