Table 4 of Kim, Mol Vis 2011; 17:844-853.

Table 4. The RHO mutations and phenotypes.

Patient ID Age/Sex Mutation *Onset (y) BCVA: RE/LE (decimal) Lens opacities VF: RE/LE ERG: Cone/Rod OCT: RE/LE (CFT, μm)
III-5,Figure 1A 45/M p.T17M 14 0.6/0.5 NS Central/5° †na na
II-2, Figure 1B 47/M p.Y178C 16 FC/NLP IOL Failure Failure 202/188
II-4,Figure 1B 45/M p.Y178C 12 0.15/0.4 IOL na Non-detectable 282/298
III-2, Figure 1B 23/F p.Y178C 13 0.8/0.6 Clear na na 207/213
II-1,Figure 1C 31/F p.K296N 15 0.3/0.4 PSC Central/7° na na
II-3, Figure 1D 55/M p.A298D 16 HM/LP PSC Failure Non-detectable 231/267
I-1,Figure 1E 44/F p.P347L Teens LP/LP NS Failure Non-detectable 161/152
II-1, Figure 1E 17/F p.P347L 15 1.0/0.7 Clear Peripheral constriction Reduction/Non-detectable 387/560
II-2,Figure 1E 15/F p.P347L 15 0.8/0.8 Clear Normal Normal range/Non-detectable 376/428
II-3, Figure 1E 13/M p.P347L 12 1.2/1.0 Clear Normal Normal range/Non-detectable 295/291
II-4,Figure 1E 11/M p.P347L Not yet 0.7/0.5 Clear Normal Normal range/Reduction 400/499
II-3, Figure 1F 26/F p.P347L 23 0.6/0.7 PSC Central/10° Non-detectable 216/175

BCVA, best corrected visual acuity; CFT, central foveal thickness; ERG, electroretinogram; FC, finger count at specified distance; HM, hand motion; IOL, intraocular lens; LE, left eye; LP, light perception; NLP, no light perception; NS, nuclear sclerosis; OCT, optical coherence tomography; PSC, posterior subcapsular opacity; RE, right eye; VF, visual field. *Onset (y), age at onset of night blindness. †na, data not available.

Kim, Mol Vis 2011; 17:844-853. http://www.molvis.org/molvis/v17/a95

©2011 Molecular Vision http://www.molvis.org/molvis/

ISSN 1090-0535