Summary of clinical findings
| Case | Sex | Age | Visual acuity RE–LE | Fundus | AF imaging | ERG | OFF responses | PERG | Colour vision |
|---|---|---|---|---|---|---|---|---|---|
| Cases 1 and 2 are brother and sister. Cases 6, 7, and 8 are siblings. ND, not done. | |||||||||
| 1 | F | 21 | 6/60–6/60 | Bilateral mild macular atrophy with temporal optic nerve pallor (fig 2D) | Bilateral perifoveal rings of relative increased AF (fig 2E) | Reduced and delayed cone responses Supernormal and delayed rod responses | Reduced with delay | ND | Bilateral markedly reduced red/green discrimination with reasonable tritan discrimination |
| 2 | M | 16 | 6/12–6/18 | Bilateral mild macular atrophy with temporal optic nerve pallor | Early bilateral perifoveal rings of relative increased AF | Reduced and delayed cone responses Supernormal and delayed rod responses | Delayed | ND | Bilateral markedly reduced red/green discrimination with reasonable tritan discrimination |
| 3 | F | 37 | 6/24–6/24 | Bilateral macular RPE changes with areas of atrophy and pigmentation | Bilateral central macular area of increased AF with a subtle surrounding ring of increased AF | Reduced and delayed cone responses Supernormal and delayed rod responses | Reduced with delay | Absent | Bilateral reduced red/green discrimination with good tritan discrimination |
| 4 | M | 27 | 6/36–6/60 | Bilateral mild macular RPE disturbance with temporal optic nerve pallor | Bilateral decreased AF centrally with a surrounding ring of relative increased AF | Reduced and delayed cone responses Supernormal and delayed rod responses | Reduced with delay | Absent | Bilateral markedly reduced red/green discrimination with good tritan function |
| 5 | M | 36 | 6/36–6/60 | Bilateral “bull’s eye maculopathy (BEM)-like” RPE changes (fig 2B) | Bilateral central macular area of markedly increased AF surrounded by a ring of relative decreased AF (fig 2C) | Reduced and delayed cone responses Supernormal-like and delayed rod responses | Reduced with delay | Absent | Bilateral markedly reduced red/green discrimination with reasonable tritan discrimination |
| 6 | F | 26 | 6/24–6/24 | Bilateral mild macular atrophy with temporal optic nerve pallor | ND | Reduced and delayed cone responses Supernormal and delayed rod responses | ND | Absent | Bilateral markedly reduced red/green discrimination with reasonable tritan function |
| 7 | F | 25 | 6/36–6/60 | Bilateral macular atrophy with mild temporal optic nerve pallor (fig 2A) | ND | Reduced and delayed cone responses Supernormal-like and delayed rod responses | Delayed | Absent | Bilateral markedly reduced red/green discrimination with reasonable tritan function |
| 8 | M | 26 | 2/36–6/36 | Right old subtotal retinal detachment; Left sided macular atrophy (fig 3) | ND | ND | ND | ND | Bilateral reduced red/green discrimination with reasonable tritan function |
| 9 | F | 18 | 6/60–6/60 | Normal appearance | ND | Reduced and delayed cone responses Supernormal and delayed rod responses | ND | Absent | Bilateral markedly reduced red/green discrimination with good tritan discrimination |
| 10 | M | 13 | 6/18–6/18 | Normal appearance | ND | Reduced and delayed cone responses Supernormal and delayed rod responses | Delayed | Absent | Bilateral markedly reduced red/green discrimination with reasonable tritan function |