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. Author manuscript; available in PMC: 2009 Feb 1.
Published in final edited form as: Vision Res. 2007 Nov 5;48(3):392–399. doi: 10.1016/j.visres.2007.08.024

Table 2.

Ocular phenotype and OCT findings

Case # Gender Age VA GVF ERG (age at test) Macula Fd-OCT
ILM wrinkling Inner retina layer abnormal Enlarged space within ONL in fovea ISL/OSL present RPE thinned Deposits above Bruch's membrane
2597 F 20.6 0.2 1.2 RCD (20.5) Abnormal + − + + + −
2512 F 28.5 1.6 0 NR (5.7) Abnormal − + − (+) + +
2301 F 15.8 0.54 0.23 NR (12.3) Abnormal − − − − + −
2293 M 20.8 0.6 1.7 RCD (20.5) Abnormal + − + + + −
2296* M 11.9 1.85† NT NT Abnormal − − + + + +
2621* M 13.6 1.6† 0.13 NR (8.1) Abnormal + − + (+) + +
2213 F 13.5 1.85† 0.01 RCD (11.4), NR (13.5) Normal − − − − + +
2294 F 16.6 0.6 0.08 RCD (4.4) Normal − − − (+) + +
*

siblings; VA, visual acuity (log MAR);

†

nystagmus; GVF, Goldman visual field (III4e, solid angle); RCD, rod-cone dysfunction; NR, non-recordable; NT, not tested; ILM, inner limiting membrane; ONL, outer nuclear layer; ISL/OSL, inner/outer segment layer; RPE, retinal pigment epithelium; +, yes; −, no.