Table 2 of Fujinami, Mol Vis 2013; 19:1580-1590.

Table 2. Summary of demographics, clinical findings and molecular status for four Japanese patients with KCNV2-retinopathy

Pt, FM, gender Onset of disease, age at examination (years) VA Fundus AF OCT Mutation status
RE LE RPE mottling Subtle patchy granular flecks Ring enhancement Patchy granular foci of high signal Absence of COST Deficit of IS/OS
1, 1, F 9, 23 0.7 0.8 Macula ND Fovea ND Fovea ND Compund heterozygous [c.529 T>C, p.Cys177Arg]; [c.1381G>A, p.Gly461Arg]
2, 1, M 5,17 0.7 0.7 Macula ND Fovea ND Fovea ND Compund heterozygous [c.529 T>C, p.Cys177Arg]; [c.1381G>A, p.Gly461Arg]
3, 2, F 3,21 0.1 0.1 Macula Macula Fovea Macuala Macula Fovea Compund heterozygous [c.529 T>C, p.Cys177Arg]; [c.1381G>A, p.Gly461Arg]
4, 3, F 2, 17 0.1 0.08 Macula ND Para-fovea ND Macula Fovea Complex homozygous [c.80 G>A, p.Arg27His]; [c.617 G>C, p.Arg206Pro]

Pt = Patient; FM = family number; VA = logMAR visual acuity; RE = right eye; LE = left eye; RPE = retinal pigment epithelium; AF = autofluorescence; COST = cone outer segment tip line; IS/OS = photoreceptor inner and outer segment junction; ND = not detected. The affected area of each finding is based on the color fundus photographs, AF images, and the OCT images in each column.

Fujinami, Mol Vis 2013; 19:1580-1590. http://www.molvis.org/molvis/v19/1580

©2013 Molecular Vision http://www.molvis.org/molvis/

ISSN 1090-0535