Table 2. Clinical manifestations of patients with identified mutations.

Patient ID	Diagnosis	Gene	Mutation	Onset Age (year)	Age (years) /Sex	BCVA (logMAR)		Fundus Appearance								ERG	VF
								O.D.				O.S.
						O.D.	O.S.	MD	OD	AA	PD	MD	OD	AA	PD
01-V:1†	ADRP	PRPF31	p.Leu366fs*1	5	22/F	0.5	0.6	Yes	Waxy	Yes	Diffuse	Yes	Waxy	Yes	Diffuse	Reduced	Diffuse Loss
02-II:2†	ADRP	SNRNP200	p.R681H	6	22/F	0.2	0.4	Yes	Waxy	Yes	Intensive	Yes	Waxy	Yes	Intensive	Reduced	20 degrees
03-IV:3†	ADRP	SNRNP200	p.S1087L	7	22/F	0.2	0.1	Yes	Waxy	Yes	Diffuse	Yes	Waxy	Yes	Diffuse	Reduced	10 degrees
04-III:3†	ADRP	IMPDH1	p.D311N	10	65/M	Light	Light	Yes	Waxy	Yes	Intensive	Yes	Waxy	Yes	Intensive	Reduced	<5 degrees
05-II:1†	ADRP	RP1	S781*	8	58/M	0.1	0.1	Yes	Waxy	Yes	Intensive	Yes	Waxy	Yes	Diffuse	Reduced	10 degrees
06-II:1†	ADRP	RHO	p.P347L	14	26/M	0.2	0.3	Yes	Waxy	Yes	Diffuse	Yes	Waxy	Yes	Diffuse	Reduced	20 degrees
07-II:1†	XLRP	RP2	p.Ile137del	8	23/M	0.2	0.2	Yes	Waxy	Yes	Diffuse	Yes	Waxy	Yes	Diffuse	Reduced	10 degrees
08-II:5†	XLRP	RP2	p.Q65*	7	49/M	Light	Light	Yes	Waxy	Yes	Intensive	Yes	Waxy	Yes	Intensive	Reduced	<5 degrees

Abbreviations: †, proband of each family; BCVA, best corrected visual acuity; logMAR, logarithm of the Minimum Angle of Resolution; O.D., right eye; O.S., left eye; MD, macular degeneration; OD, optic disc; AA, arterial attenuation; PD, pigment deposit; ERG, electroretinography; VF, visual field; NA, not available; NL, no light; F: female; M: male.