Table 1 of Ullah, Mol Vis 2016; 22:797-815.

Table 1. Clinical characteristics of the patients screened for TULP1 mutations.

Family ID C-Age (Yr.) D-age
(Yr.) First symptoms Night blindness Fundus examination Electroretinography Visual acuity
OD OS OD OS
PKRP259 10 28 6 Night blindness progressive MD, Art. Atten, Pig.dep, PD NAB, NF NAB, NF 6/36 6/40
PKRP259 15 22 7 Night blindness progressive MD, Art. Atten, Pig.dep, PD NAB, NF NAB, NF 6/24 6/24
PKRP268 12 17 7 Night blindness progressive MD, Art. Atten, Pig.dep, PD NAB, NF NAB, NF 6/20 6/20
PKRP268 13 14 6 Night blindness progressive MD, Art. Atten, Pig.dep, PD NAB, NF NAB, NF 6/20 6/20
PKRP301 14 20 5 Night blindness progressive MD, Art. Atten, Pig.dep, PD NAB, NF NAB, NF 6/18 6/20
PKRP301 17 14 5 Night blindness progressive MD, Art. Atten, Pig.dep, PD NAB, NF NAB, NF 6/20 6/24
PKRP309 11 34 6 Night blindness progressive MD, Art. Atten, Pig.dep, PD NAB, NF NAB, NF 6/30 6/28
PKRP309 15 25 7 Night blindness progressive MD, Art. Atten, Pig.dep, PD NAB, NF NAB, NF 6/25 6/25
PKRP356 10 10 5 Night blindness progressive MD, Art. Atten, Pig.dep, PD NAB, NF NAB, NF 6/12 6/12
PKRP356 12 8 5 Night blindness progressive MD, Art. Atten, Pig.dep, PD NAB, NF NAB, NF 6/20 6/20
PKRP364 10 58 7 Night blindness progressive MD, Art. Atten, Pig.dep, PD NAB, NF NAB, NF 6/50 6/50
PKRP364 20 21 8 Night blindness progressive MD, Art. Atten, Pig.dep, PD NAB, NF NAB, NF 6/24 6/24
PKRP367 11 31 6 Night blindness progressive MD, Art. Atten, Pig.dep, PD NAB, NF NAB, NF 6/24 6/28
PKRP367 12 20 7 Night blindness progressive MD, Art. Atten, Pig.dep, PD NAB, NF NAB, NF 6/20 6/20

MD: macular degeneration; Art. Atten: artery attenuation; Pig.dep: pigment deposit; PD: Pale optic disc; NAB: no ‘a’ or ‘b’ wave response; NF: no flicker response; C-Age: current age; D-Age: age at first diagnosis of the retinal dystrophy.

Ullah, Mol Vis 2016; 22:797-815. http://www.molvis.org/molvis/v22/797

©2016 Molecular Vision http://www.molvis.org/molvis/

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