Table 1 Clinical and genetic features of patients with coneā€“rod dystrophy
CaseSexAgeGenotypeVisual acuityFundusAFColour vision
1M48RPGR6/60Macular atrophy and pigmentation BELow-density AF over central macula surrounded by a ring of high densityAbsent
Pedigree A6/60
ORF15+A1094C G1095T
2M40RPGR6/9Macular RPE atrophy BELow-density AF over central macula surrounded by a ring of high densityAbsent
Pedigree A6/9
ORF15+A1094C G1095T
3M37RPGR6/9No definite abnormalityLow-density AF over the central macula surrounded by a ring of high densityAbsent
Pedigree A6/18
ORF15+A1094C G1095T
4M19RPGRPedigree B6/60Mottling of RPE at maculaSmall parafoveal ring of high densityAbsent
ORF15+1176G>T6/60
5M52RIMS16/60Areas of macular atrophy and pigmentation BE. Attenuated vessels and peripheral areas of atrophy BELow-density AF centrally surrounded by a high-density ringMildly abnormal
Arg844His6/60
6F82RIMS16/60Bilateral macular atrophy and attenuated vesselsBE: Low-density AF over central atrophy surrounded by a ring of higher density AFAbnormal
Arg844His6/60
7F53RIMS13/60Extensive RPE atrophy and patchy pigmentation RE>LE. Attenuated vesselsLow-density AF over central atrophy surrounded by a ring of high densityAbnormal
Arg844His3/60
8M48RIMS1Arg844His6/9RE: RPE changes.RE: Central preservation surrounded by concentric rings of high density and patchy low-density AFMildly abnormal
6/9LE: Well demarcated macular atrophyLE: Low density lesion over atrophic area surrounded by ring of high density
9M30RIMS16/18Extensive macular RPE atrophy and abnormal pigmentation LE>RE. Occasional scattered peripheral bone-spicule pigmentationLow-density AF over central atrophy surrounded by a ring of high density. Narrow bridge of RPE sparing over central macula of REMildly abnormal
Arg844His3/60
10F18RIMS16/9Mild bilateral RPE changes at maculaeParafoveral ring of high-density AF, BENormal
Arg844His6/5
  • BE, both eyes; LE, left eye; RE right eye.