Table 1.

Patient details: sex, age at presentation, age at last review visit when testing occurred including visual acuities, fields and imaging were taken, as well as documentation of fundus appearances and EYS protein change.

Patient ID	Gender	Ethnicity	First symptom	Age at first presentation	Age at last visit	Lens status		Visual acuity (logMAR) at last visit		Visual fields		Fundoscopy	Protein
						OD	OS	OD	OS	OD	OS
A	M	South Asian	Blurred vision	20	45	Pseudophakic	Nuclear sclerotic cataract	1.30	1.60	NP	NP	Central atrophy disc pallor, attenuated vessels	p.Phe2733fs33*
B	F	Northern European	Asymptomatic, pigment noted by Optometrist	33	50	Nuclear sclerotic cataract	Nuclear sclerotic cataract	0.10	0.10	20°	30°	Pigment predominantly mid-peripheral, disc pallor, attenuated vessels	p.Tyr2558fs12*
													p.Cys2948Arg
C	M	Northern European	Field defects	NA	61	N Not recorded	Not recorded	0.20	0.10	NP	NP	Widespread atrophy and heavy pigmentation sparing the macula	p.Gly2966Glu
													p.Glu3151del
D	M	Not recorded	Not recorded	NA	NA	Not recorded	Not recorded	NP	NP	NP	NP	Pigment predominantly in the mid periphery, with central atrophy and attenuated vessels and pale discs	p.Cys436*
E	F	Not recorded	Asymptomatic, field defects noted by optometrist	40	46	Clear crystalline lens	Clear crystalline lens	0.00	0.00	110°	100°	Inferior sector atrophy with pigmentation confined to inferior retina	p.Lys1945fs42*
F	M	South Asian	Central visual disturbance	50	68	Clear crystalline lens	Clear crystalline lens	0.20	0.24	150°	150°	Inferior atrophy internal to temporal arcades	p.Gly2623Glu
													p.Phe2733fs33*
G	F	Northern European	Nyctalopia	60	77	Nuclear sclerotic cataract	Pseudophakic	0.52	0.40	100°	80°	Pigment and coalescing atrophy surrounding arcades more predominantly located in the inferior arcade	p.Cys2130Ser
													p.Met3053fs16*
H	M	Northern European	Nyctalopia	30	55	Clear crystalline lens	Clear crystalline lens	0.76	HM	NP	NP	Pigment: sparse located in the mid peripheral extending into the periphery, disc pallor attenuated vessels	p.Gly2685Glu
													p.Lys3149fs7*
I	M	South Asian	Nyctalopia	11	42	Posterior subcapsular cataract	Posterior subcapsular cataract	1.00	1.00	70°	70°	Peripheral bone spicules (no colour image available)	p.Arg26Trp
													p.Leu1575Val
J	M	Middle Eastern	Peripheral visual loss	25	64	Nuclear sclerotic cataract	Nuclear sclerotic cataract	0.79	HM	NP	NP	Peripheral bone spicules (no colour image available)	Splicing
													p.Gly2017Val
K	M	East Asian	Nyctalopia	30	45	Posterior subcapsular cataract	Posterior subcapsular cataract	0.20	0.10	NP	NP	Pigment and atrophy primarily located in band around the arcades	p.Tyr2956*
L	M	Northern European	Peripheral field loss	62	65	Pseudophakic	Pseudophakic	0.82	0.62	70°	30°	Atrophic patches coalescing primarily located in peripheral retina	p.Cys2130Ser

NA not available, NP not performed, HM hand movements