Molecular Vision: Xiao, Mol Vis 2019; 25:821-833. Table 1

Table 1. Clinical information of the probands and affected siblings with biallelic SPATA7 mutations.

Family ID	Clinic group	Mutation based on NM_018418	Effect	Gender	Age (year) at		Axial length/ refraction	First symptom	Visual acuity		Fundus changes	ERG recording rods and cones
Family ID	Clinic group	Mutation based on NM_018418	Effect	Gender	onset	1st exam	Axial length/ refraction	First symptom	right	left	Fundus changes	ERG recording rods and cones
F01-II:1*	LCA	c.[1183C>T];[1183C>T]	p.[R395];[R395]	M	0.3	0.6	NA	PV, ODS, RN	NPL	NPL	AV, YFD	Extinguished
F02-II:1	LCA	c.[367C>T];[1183C>T]	p.[Q123];[R395]	F	FMB	4.3	+5.25; +5.75	PV, RV	LP	LP	AV, TD	NA
F03-II:1*	LCA	c.[644_647del];[644_647del]	p.[L215Sfs];[L215Sfs]	F	FMB	2.3	NA	PV, ODS, RN	LP	LP	AV, YSB	Extinguished
F03-II:2	LCA	c.[644_647del];[644_647del]	p.[L215Sfs];[L215Sfs]	M	FMB	1.3	NA	PV, ODS, RN	LP	LP	AV, YSB	NA
F04-II:1*	LCA	c.[1183C>T];[1183C>T]	p.[R395];[R395]	M	0.583333	1.3	NA	PV, ODS, RN	NPL	NPL	AV, TD	Extinguished
F05-II:1	LCA	c.[367C>T];[367C>T]	p.[Q123];[Q123]	F	FMB	13	NA	PV, RN	LP	LP	AV, YMD, PPP	Extinguished
F06-II:1	LCA	c.[322C>T];[322C>T]	p.[R108];[R108]	M	0.3	2.4	+5.00; +4.75	PV, RV	LP	LP	normal-like	Extinguished
F07-II:1*	jRP	c.[322C>T];[1183C>T]	p.[R108];[R395]	M	FMB	3.4	-1.50; -1.25	PV, NB, PA	0.4	0.6	AV, YMD, PPP	Extinguished
F08-II:1	jRP	c.[20_23del];[1183C>T]	p.[V7Efs19];[R395]	M	4	7	+3.00;+2.50	PV, NYS	0.02	0.03	AV, YMD, PPP	Extinguished
F09-II:6	jRP	c.[20_23del];[1083-2A>G]	p.[V7Efs*19];[splicing]	M	22	25	NA	NB	HM	LP	WPD, AV, IBP	NA
F10-II:1	myopia	c.[20_23del];[20_23del]	p.[V7Efs19];[V7Efs19]	M	NA	5	-8.50; -10.25	PV	NA	NA	NA	NA
F10-II:2	myopia	c.[20_23del];[20_23del]	p.[V7Efs19];[V7Efs19]	M	NA	3	24.38; 23.91mm	PV	NA	NA	NA	NA

M=male; F=female; FMB=first few months after birth; NA=not available; PV=poor vision or no pursuit of objects; ODS=ocular digital sign; RN=roving nystagmus; NB=night lindness; LP=light perception; NPL=No pursuit of light; HM=hand motion; AV=attenuated vessels; TD=tapetoretinal degeneration; YFD=Yellowish-white frosted degeneration in midperipheral retina; YSB=Yellowish-white sandy beach in midperipheral retina; YMD=Yellowish-white mottled degeneration in midperipheral retina. PPP=a few tiny pepper-powder like pigmentation; WPD=waxy pale disc; IBP=Irregular black pigmentation; NA=Not available; Ext=Extinguished.