Table 2 of Pan, Mol Vis 2014; 20:770-779.

Table 2. Clinical manifestations of patients with identified mutations.

Patient ID Diagnosis Gene Mutation Onset Age (year) Age (years) /Sex BCVA (logMAR) Fundus Appearance ERG VF
O.D. O.S.
O.D. O.S. MD OD AA PD MD OD AA PD
01-V:1† ADRP PRPF31 p.Leu366fs*1 5 22/F 0.5 0.6 Yes Waxy Yes Diffuse Yes Waxy Yes Diffuse Reduced Diffuse Loss
02-II:2† ADRP SNRNP200 p.R681H 6 22/F 0.2 0.4 Yes Waxy Yes Intensive Yes Waxy Yes Intensive Reduced 20 degrees
03-IV:3† ADRP SNRNP200 p.S1087L 7 22/F 0.2 0.1 Yes Waxy Yes Diffuse Yes Waxy Yes Diffuse Reduced 10 degrees
04-III:3† ADRP IMPDH1 p.D311N 10 65/M Light Light Yes Waxy Yes Intensive Yes Waxy Yes Intensive Reduced <5 degrees
05-II:1† ADRP RP1 S781* 8 58/M 0.1 0.1 Yes Waxy Yes Intensive Yes Waxy Yes Diffuse Reduced 10 degrees
06-II:1† ADRP RHO p.P347L 14 26/M 0.2 0.3 Yes Waxy Yes Diffuse Yes Waxy Yes Diffuse Reduced 20 degrees
07-II:1† XLRP RP2 p.Ile137del 8 23/M 0.2 0.2 Yes Waxy Yes Diffuse Yes Waxy Yes Diffuse Reduced 10 degrees
08-II:5† XLRP RP2 p.Q65* 7 49/M Light Light Yes Waxy Yes Intensive Yes Waxy Yes Intensive Reduced <5 degrees

Abbreviations: †, proband of each family; BCVA, best corrected visual acuity; logMAR, logarithm of the Minimum Angle of Resolution; O.D., right eye; O.S., left eye; MD, macular degeneration; OD, optic disc; AA, arterial attenuation; PD, pigment deposit; ERG, electroretinography; VF, visual field; NA, not available; NL, no light; F: female; M: male.

Pan, Mol Vis 2014; 20:770-779. http://www.molvis.org/molvis/v20/770

©2014 Molecular Vision http://www.molvis.org/molvis/

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