Table 3 of Kim, Mol Vis 2012; 18:2398-2410.

Table 3. Phenotypic characterization of patients with missense mutation.

Gene Mutation Family Patient Age BCVA: Lens opacities: Visual field ERG: OCT (CFT,µm):


ID ID /Sex RE/LE RE/LE
Cone/Rod RE/LE
PRPF3 p.T494M RP-0537 R0537, II-1 49/F 0.02/0.02 Clear Central<5° ND/ND 184,CME / 355,VMT

p.T494M RP-0537 R0553, III-2 27/F 0.6/0.6 Clear Central 10° ND/ND ―
? ? RP-0089 R0089, II-4 49/M 0.2/0.2 NS Central 5°~10° ND/ND ―
RHO p.R135W RP-0089 R0352, II-2 45/F HM/HM IOL Failure ND/ND 178/140

p.R135W RP-0089 R0119, III-2 22/M 0.4/0.6 Clear Pph.constriction ND/ND ―

p.D190N RP-0513 R0513 59/M 0.2/0.4 PSC Central 5°~10° ↓↓/ND 256 / 347,ERM
PDE6B p.H557Y RP-0187 R0187, II-1 51/M 0.02/0.04 IOL/NS Central 5°~10° ND/ND 201/187

p.H557Y RP-0143 R0143 26/F 0.9/0.4 Clear Central 10° ― 263,ERM/244,CME

p.H557Y RP-0295 R0295 28/F 0.7/0.4 Clear ― ― ―

p.H557Y RP-0310 R0310 32/F 0.5/0.5 ASC Pph.constriction ― ―
PRPH2 p.W316G RP-0030 R0030 33/M 0.2/0.2 Clear Central<5° ND/ND ―
RP1 p.D984G RP-0121 R0121, II-1 29/M 0.02/0.04 IOL/PSC ― ND/ND 181/109

BCVA, best corrected visual acuity (decimal); CFT, central foveal thickness (μm); CME, cystoid macular edema; ERM, epiretinal membrane; ERG, electroretinogram; HM, hand motion; IOL, intraocular lens; LE, left eye; ND, non-detectable; NS, nuclear sclerosis; OCT, optical coherence tomography; PSC, posterior subcapsular opacity; RE, right eye; VMT, vitreomacular traction.

Kim, Mol Vis 2012; 18:2398-2410. http://www.molvis.org/molvis/v18/a253

©2012 Molecular Vision http://www.molvis.org/molvis/

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