Skip to main content
. Author manuscript; available in PMC: 2014 Apr 13.
Published in final edited form as: Arch Ophthalmol. 2012 Sep;130(9):1184–1189. doi: 10.1001/archophthalmol.2012.1117

Table 1.

Genotype positive carrier females are arranged by descending age. All males have good vision except IV:2 who showed RPE loss involving the fovea OS. IV:10 and IV:11 were examined but not genetically tested (NT: not tested).

Patient Sex Age T1194G Vision (OD;OS) Findings
II:3 F 89 + 20/400;20/200 Diffuse scalloped retina/RPE atrophy with pigment clumping
III:1 F 61 + HM;HM Diffuse scalloped retina/RPE atrophy with pigment clumping
III:5 F 48 + 20/20;20/25 Moderate macular RPE changes and autofluorescence irregularities
III:3 F 44 + 20/20;20/20 Moderate macular RPE changes and autofluorescence irregularities
IV:8 F 30 + 20/20;20/20 Mild macular pigmentary mottling
IV:6 F 22 + 20/20;20/20 Mild macular pigmentary mottling
IV:1 M 39 + 20/40;20/25 Peripheral pigment clumping with macular RPE atrophy
IV:2 M 34 + 20/20;20/100 Peripheral pigment clumping with macular RPE atrophy
IV:3 M 32 + 20/20;20/20 Peripheral pigment clumping with macular RPE atrophy
IV:4 M 27 + 20/20;20/20 Peripheral pigment clumping with macular RPE atrophy
IV:5 M 39 + 20/20;20/25 Peripheral pigment clumping with macular RPE atrophy
IV:9 M 28 + 20/30;20/25 Peripheral pigment clumping with macular RPE atrophy
IV:10 F 39 NT 20/20;20/20 Normal exam and autofluorescence
IV:11 M 31 NT 20/40;20/30 Normal exam and autofluorescence