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. 2019 Nov;60(14):4811–4819. doi: 10.1167/iovs.19-27263

Table.

Clinical Details of the Families Segregating the ARL3 Variant

ID
Disease Status
ARL3 Genotype
Age (y)
Age of Onset of Symptoms
Best-Corrected Visual Acuity: OS;OD
Refraction
Color Vision
Photophobia: OS/OD
ERG Status
LUSG-03
 IV:4 Normal WT/M 8 NA 6/6;6/6 0.00 Normal Neg Normal rod and cone response
 V:3 Normal WT/M 32 NA 6/6;6/6 0.00 Normal Neg Normal rod and cone response
 IV:3 Affected M/M 25 First decade 6/36;6/36 −5.5/−5.5 Normal ++/++ Mildly reduced scotopic amplitudes with normal implicit time, severely reduced photopic amplitudes and very delayed implicit times OU
 V:1 Affected M/M 24 First decade 6/36;6/36 −5.25/−5.50 Impaired ++/++ Normal scotopic, reduced photopic amplitudes (severe OD, moderate OS), delayed implicit times OU
 V:5 Affected M/M 29 First decade 6/60;6/60 −5.75/−5.50 Normal +/+ Normal scotopic, severely reduced photopic amplitudes OU
 V:7 Affected M/M 44 First decade 6/24;6/24 −6.50/−6.0 Impaired +/+ Normal scotopic, severely reduced photopic amplitudes OU
LUSG-04
 IV:1 Affected M/M 30 First decade 6/36;6/36 −5.0/−5.0 Normal +/+ Reduced amplitudes OU
 IV:2 Affected M/M 25 First decade 6/24;6/24 −4.0/−4.75 Normal +/+ Reduced amplitudes OU
 IV:5 Affected M/M 11 First decade 6/9;6/9 −3.25/−2.50 Impaired +/+ Moderately reduced photopic amplitudes OU, poor scotopic rod responses but normal scotopic combined responses OU (possibly insufficient dark adaptation time)

M, mutant; NA, not applicable; Neg, negative; WT, wild type.