Table 1 IRD patient characteristics

PT1

50/M

20/200 OD, 20/125 OS

7 degs OU*

No rod or mixed measurable responses; only residual mixed ERGs recordable

Markedly generalized ONL/EZ drop-out with modest central residue

RP, autosomal dominant

PRPF31 C299R, heterozygous, known disease causing mutation

PT2

77/M

20/20 OU

10 degs OU

No rod or mixed measurable responses; only small flicker ERG recordable

Markedly generalized ONL/EZ drop-out with excellent central residue

RP, autosomal dominant

RHO P23H, heterozygous, known disease causing mutation

PT3

23/M

20/40 OU

Incomplete ring scotomas OU

Residual rod ERG; moderately reduced and electronegative mixed and cone ERGs

Mild generalized ONL thinning and ill-defined EZ across the whole scan

BBS, autosomal recessive

BBS1 M390R, homozygous, known disease causing mutation

PT4

18/M

20/100 OD; 20/63 OS

Complete ring scotoma OU^d

Non-recordable rod ERG; markedly reduced and electronegative mixed and cone ERGs

Mild generalized ONL thinning and ill-defined EZ across the whole scan

BBS, autosomal recessive

BBS1 M390R, homozygous, known disease causing mutation

PT5

70/M

20/200 OU

Full OU, ill-defined central relative scotomas OU (no stimulus detection of targets I3e or smaller)

Delayed and mildly reduced rod and mixed responses, virtually non-recordable cone responses OU

Severe focal ONL/EZ loss centrally (partial sparing fovea/perifovea only)

CORD, simplex

Inconclusive, (RPGRIP1L G1105R), variant of uncertain significance (possibly pathogenic)

PT6

42/F

20/250 OU

Full OU, ~22-deg. size central relative scotomas to I4e target and ~15-deg. size central relative scotomas to III4e target OU (small foveal detection area in OS)

Normal rod responses; mildly reduced mixed a-waves; moderately reduced cone responses (flicker > transient) OU

Severe focal ONL/EZ loss centrally (partial sparing fovea/perifovea only, OS > OD) and underlying marked central RPE drop-out

CORD, simplex^e

Testing in progress (via EyeGENE)