Table 1.

 Summary of clinical findings

Case	Sex	Age	Visual acuity RE–LE	Fundus	AF imaging	ERG	OFF responses	PERG	Colour vision
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

Cases 1 and 2 are brother and sister. Cases 6, 7, and 8 are siblings. ND, not done.