Case | Sex | Age | Genotype | Visual acuity | Fundus | AF | Colour vision |
1 | M | 48 | RPGR | 6/60 | Macular atrophy and pigmentation BE | Low-density AF over central macula surrounded by a ring of high density | Absent |
Pedigree A | 6/60 | ||||||
ORF15+A1094C G1095T | |||||||
2 | M | 40 | RPGR | 6/9 | Macular RPE atrophy BE | Low-density AF over central macula surrounded by a ring of high density | Absent |
Pedigree A | 6/9 | ||||||
ORF15+A1094C G1095T | |||||||
3 | M | 37 | RPGR | 6/9 | No definite abnormality | Low-density AF over the central macula surrounded by a ring of high density | Absent |
Pedigree A | 6/18 | ||||||
ORF15+A1094C G1095T | |||||||
4 | M | 19 | RPGRPedigree B | 6/60 | Mottling of RPE at macula | Small parafoveal ring of high density | Absent |
ORF15+1176G>T | 6/60 | ||||||
5 | M | 52 | RIMS1 | 6/60 | Areas of macular atrophy and pigmentation BE. Attenuated vessels and peripheral areas of atrophy BE | Low-density AF centrally surrounded by a high-density ring | Mildly abnormal |
Arg844His | 6/60 | ||||||
6 | F | 82 | RIMS1 | 6/60 | Bilateral macular atrophy and attenuated vessels | BE: Low-density AF over central atrophy surrounded by a ring of higher density AF | Abnormal |
Arg844His | 6/60 | ||||||
7 | F | 53 | RIMS1 | 3/60 | Extensive RPE atrophy and patchy pigmentation RE>LE. Attenuated vessels | Low-density AF over central atrophy surrounded by a ring of high density | Abnormal |
Arg844His | 3/60 | ||||||
8 | M | 48 | RIMS1Arg844His | 6/9 | RE: RPE changes. | RE: Central preservation surrounded by concentric rings of high density and patchy low-density AF | Mildly abnormal |
6/9 | LE: Well demarcated macular atrophy | LE: Low density lesion over atrophic area surrounded by ring of high density | |||||
9 | M | 30 | RIMS1 | 6/18 | Extensive macular RPE atrophy and abnormal pigmentation LE>RE. Occasional scattered peripheral bone-spicule pigmentation | Low-density AF over central atrophy surrounded by a ring of high density. Narrow bridge of RPE sparing over central macula of RE | Mildly abnormal |
Arg844His | 3/60 | ||||||
10 | F | 18 | RIMS1 | 6/9 | Mild bilateral RPE changes at maculae | Parafoveral ring of high-density AF, BE | Normal |
Arg844His | 6/5 |
BE, both eyes; LE, left eye; RE right eye.