Table 3. Summary of clinical findings.

Patient Nr.	Current age (y) Gender	Genetic findings	Revised diagnosis	Disease onset	BCVA OD OS	Nystagmus	Cataract	Strabism	Fundus pigmentary changes	Other findings
1	50 / m	AIPL1 c.857A>T/p.D286V homozygous	LCA	6 months	1/35 1/35	yes	yes	yes	S&P	no
2	31 / m	AIPL1 c.834G>A/p.W278* heterozygous c.277+6T>C/p.? heterozygous	LCA	n.a.	CF CF	yes	no	yes	S&P	no
3	8 / f	CEP290 c.2991+1655A>G/p.[Cys998*, = ] homozygous	LCA	birth	n.a.	yes	no	yes	n.a.	no
4	45 / f	CRB1 c.2798G>A/p.C933Y heterozygous c.2843G>A/p.C948Y heterozygous	EOSRD	childhood	LP HM	yes	no	yes	S&P	n.a.
5	61 / m	CRB1 c.4039del/p.T1347Lfs*5 heterozygous c.2843G>A/p.C948Y heterozygous	LCA	birth	n.a.	yes	yes	n.a.	n.a.	n.a.
6	25 / f	CRB1 c.410del/p.P137Lfs*11 heterozygous c.2843G>A/p.C948Y heterozygous	LCA	6 months	n.a.	yes	no	yes	S&P	no
7	27 / m	CRB1 c.70+1G>A/p.? heterozygous c.2042G>A/p.C681Y heterozygous	LCA	9 months	1/35 1/35	yes	no	yes	S&P	no
8	55 / f	CRB1 c.2308G>A/p.G770S heterozygous c.2843G>A/p.C948Y heterozygous	EOSRD	3 years	LP LP	n.a.	yes	n.a.	S&P	anti-phospholipid syndrome, asthma
9	28 / m	CRB1 c.2072G>A/p.W691* heterozygous c.2843G>A/p.C948Y heterozygous	LCA	birth	1/5 1/5	yes	no	yes	n.a.	n.a.
10	48 / f	NMNAT1 c.12dup/p.E5Rfs*4 heterozygous c.769G>A/p.E257K heterozygous	LCA	birth	LP LP	yes	yes	n.a.	n.a.	n.a.
11	20 / f	RD3 c.180C>A/p.Y60* homozygous	EOSRD	2 years	LP LP	yes	no	yes	n.a.	no
12	36/ m	RPE65 c.110G>C/p.W37S heterozygous c.722A>G/p.H241R heterozygous	LCA	birth	1/50 1/35	yes	no	yes	S&P	n.a.
13	48 / f	RPE65 c.203A>C/p.H68P heterozygous c.825C>G/p.Y275* heterozygous	LCA	birth	HM 1/50	yes	no	yes	n.a.	n.a.
14	26 / f	RPGRIP1 c.2440C>T/p.R814* homozygous	LCA	birth	NLP NLP	yes	no	yes	S&P	no
15	36 / m	RPGRIP1 c.1303A>T/p.K435* heterozygous c.801-25_c.843del heterozygous	LCA	6 months	HM HM	yes	no	yes	n.a.	no
16	47 / m	RPGRIP1 c.2941C>T/p.R981* homozygous	LCA	n.a.	LP LP	yes	yes	yes	S&P	no
17	17 / f	RPGRIP1 c.800+1G>A/p.? heterozygous c.2718dup/p.N907* heterozygous	LCA	birth	1/10 1/10	yes	no	yes	S&P	no
18	33 / f	ABCA4 c.1765del/p.W589Gfs*60 homozygous	CRD	3 years	n.a.	n.a.	n.a.	n.a.	n.a.	n.a.
19	47 / f	ABCA4 c.5461-10T>C/p.[T1821Vfs*13, T1821Dfs*6] heterozygous c.3377T>C/p.L1126P heterozygous	CRD	7 years	1/35 1/35	yes	no	yes	S&P	n.a.
20	44 / m	ABCA4 c.3259G>A/E1087K heterozygous c.5917del/p.V1973* heterozygous	CRD	n.a.	LP LP	n.a.	yes	n.a.	dense	no
21	18 / f	ABCA4 c.5917del/p.V1973* homozygous	CRD	childhood	LP LP	n.a.	no	n.a.	dense	no
22	20 / m	CACNA1F c.4504C>T/p.R1502* hemizygous	CSNB	birth	1/6 1/10	yes	no	no	no	no
23	35 / f	CDHR1 c.634G>A/p.A212T heterozygous c.1132C>T/p.R378W heterozygous	CRD	n.a.	HM HM	yes	no	yes	S&P	renal insufficiency, hyper-parathyroidism, obesity
24	50 / m	PROM1 c.1209_1229/p.Q403_S410delinsH homozygous	RP	16 years	LP LP	yes	yes	yes	S&P	no
25	45 / m	RP2 c.314G>A/p.C105Y hemizygous	XRP	childhood	1/35 1/35	yes	no	yes	n.a.	no
26	39/ m	IMPG2 c.370T>C/p.F124L single heterozygous	LCA	4 years	n.a.	yes	no	yes	n.a.	no
27	12 / m	nothing of immediate interest	EOSRD	3 years	1/20 1/20	no	no	yes	S&P	no

BCVA, best corrected visual acuity; OD, right eye; OS, left eye; m, male; f, female; LCA, Leber congenital amaurosis; EOSRD, early-onset severe retinal dystrophy; CRD, cone-rod dystrophy; CSNB, congenital stationary nightblindness; RP, retinitis pigmentosa; XRP, X-linked RP; CF, counting fingers; HM, hand movement; LP, light perception; NLP, no light perception; S&P, salt and pepper.