Table 2. Fundus autofluorescence type II patients. Pathogenic variants in the ABCA4 gene and clinical data.

Pt	S	Pathogenic variants				Visual acuity	Age of onset/ data collect/ disease duration (years)
		Allele 1		Allele 2
		Nucleotide change	Protein change	Nucleotide change	Protein change	RE LE
3•	F	c.4926C>G	p.Ser1642Arg	c.2791G>A	p.Val931Met	20/150 20/150	14/37/23
		c.5044_5058del15‡	p.Val1682_Val1686del‡
5	F	c.3898C>T	p.Arg1300*	c.1804C>T	p.Arg602Trp	20/200 20/200	7/17/10
8	F	not detected		not detected		20/400 20/400	32/44/12
11	M	c.6079C>T	p.Leu2027Phe	not detected		FC1m 20/200	12/24/12
12•	M	c.4328G>A	p.Leu541Pro	c.2743G>A	p.Asp915Asn	20/200 20/200	8/13/5
		c.1622T>C	p.Arg1443His
16	M	c.4720G>T	p.Glu1574*	not detected		20/150 20/200	6/38/32
18	M	c.634C>T	p.Arg212Cys	c.1804C>T	p.Arg602Trp	20/400 20/400	6/31/25
19	M	c.634C>T	p.Arg212Cys	c.1804C>T	p.Arg602Trp	FC1.5m FC1.5m	11/26/15
21	M	c.3386G>T	p.Arg1129Leu	not detected		20/150 20/150	16/32/16
22•	M	c.4926C>G	p.Ser1642Arg	c.4340A>T	p.Glu1447Val	20/200 FC2m	8/10/2
		c.5044_5058del15‡	p.Val1682_Val1686del‡
29	F	c.223T>G	p.Cys75Gly	c.6088C>T	p.Arg2030*	N/A N/A	8/16/8
32	M	c.455G>A	p.Arg152Gln	not detected		20/30 FC10cm	36/39/3
46	F	c.5461–10T>C	p.[Thr1821Valfs*13, Thr1821Aspfs*6]	c.1804C>T	p.Arg602Trp	20/200 20/200	9/10/1
47•	F	c.1622T>C	p.Leu541Pro	c.286A>G	p.Asn96Asp	20/400 20/400	7/26/19
		c.4328G>A	p.Arg1443His
50•	M	c.1804C>T	p.Arg602Trp	c.5381C>A	p.Ala1794Asp	20/400 20/400	15/31/16
26	F	c.5714+5G>A	p.?	not detected		20/80 20/80	9/14/5

Pt, Patient; S, Sex; N/A, not available; FC, Finger counting.• Segregation analysis performed ‡c.5044_del15bp, nonframeshift deletion (c.5044_5058delGTTGCCATCTGCGTG).Families: Siblings: 18 and 19.