Table 1.

Clinical and Genetic characteristics.

ID	Initials	Age	Sex	Eye	BCVA	Genetics
1	AA	33	F	OS	0.4	c.5882G>A (p.Gly1961Glu); c.2382+1G>A
2	AN	39	F	OD	0.5	c.6320G>A (p.Arg2107His); c.3523−1G>A
3	ERA	26	F	OD	0.3	c.4139C>T (p.Pro1380Leu); c.4139C>T (p.Pro1380Leu)
4	FP	44	M	OS	1	NS - not screened
5	GS	59	M	OD	0.7	c.4139C>T (p.Pro1380Leu); c.5087G>A (p.Ser1696Asn)
6	HR	48	M	OS	0.3	c.318T>G (p.Y106*); c.2588G>C (p.Gly863Ala)
7	MC	24	F	OD	1	c.1622T>C (p.Leu541Pro)/c.3113C>T (p.Ala1038Val)
8	MCH	65	F	OD	1.3	c.4594G>A (p.Asp1532Asn); c.5882G>A (p.Gly1961Glu)
9	PS	28	F	OD	1.3	c.5882G>A (p.Gly1961Glu); IVS43+1G>T
10	SK	68	F	OD	0.6	c.5882G>A (p.Gly1961Glu); c.5882G>A (p.Gly1961Glu)
11	RE	47	M	OS	0.8	c.1622T>C (p.Leu541Pro)/c.3113C>T (p.Ala1038Val)
12	WR	34	F	OD	0.7	c.5882G>A (p.Gly1961Glu)
13	BJ	23	F	OS	1	c.4667+1G>A; c.5512C>A (p.His1838Asn)
14	BC	42	F	OD	0.7	c.2461T>A (p.Trp821Arg); c.5714+5G>A
15	CS	38	F	OS	1.1	c.634C>T (p.Arg212Cys); c.3056C>T (p.Thr1019Met)
16	DG	63	F	OS	0.1	c.1714C>T (p.Arg572*); c.4417C>A (p.Leu1473Met)
17	DC	28	F	OS	0.7	c.5882G>A (p.Gly1961Glu); c.3233G>A (p.Gly1078Glu)
18	FA	39	M	OD	1	c.2345G>A (p.Trp782*); c.6320G>A (p.Arg2107His)
19	GD	68	M	OD	0.9	c.4297G>A (p.Val1433Ile); c.4297G>A (p.Val1433Ile)
20	GPA	43	M	OD	0.1	c.3610G>A (p.Asp1204Asn); c.5527C>T (p.Arg1843Trp); c.6079C>T (p.Leu2027Phe)
21	MS	28	F	OD	0.7	c.3323G>A (p.Arg1108His); c.4297G>A (p.Val1433Ile)
22	NF	39	F	OD	0.7	c.634C>T (p.Arg212Cys); c.5087G>A (p.Ser1696Asn)
23	OA	29	F	OS	0.7	c.768G>T (p.Val256Val); c.5714+5G>A
24	PE	22	M	OD	1	c.4383G>A (p.Trp1461*); c.5929G>A (p.Gly1977Ser)
25	SG	64	F	OD	1.1	c.5882G>A (p.Gly1961Glu); c.571−2A>T
26	TM	33	M	OS	0.6	c.2461T>A (p.Trp821Arg); c.2461T>A (p.Trp821Arg)
27	TS	26	F	OS	1	c.6537del (p.Pro2180Leu fs*3)