Ocular Characteristics of Patients with Leber Congenital Amaurosis 6 Caused by Pathogenic RPGRIP1 Gene Variation in a Chinese Cohort

Table 1

Clinical features of patients with LCA6.

Patient ID	Sex	Age		Initial symptoms	LogMARVA		Clinical features
		Onset	Diagnosis		OD	OS	Visual field	SD-OCT	Autofluorescence	Fundus	FEGR
Case 1	F	1 y	34 y	PVADC	0.15	0.2	Binocular superior-temporal hemianopia	The ellipsoid zone preserved	Retinal atrophy with mild surrounding pigmentation	MPC	LNRR and ECR
Case 2	F	1 y	5 y	PVADC	0.15	0.15	A small center visual island defect	The ellipsoid zone preserved	Normal	Normal	LNRR and ECR
Case 3	F	1 y	28 y	PVADC	0.05	0.05	Tubular vision	The ellipsoid zone blurred	The increase of hypofluorescence area of the macula, hyperfluorescent ring, and mottled hyperfluorescence	Normal	LNRR and ECR
Case 4	F	<1 y	32 y	PVADC	HM	HM	N/A	All retinal layers are unclear	Concentric area of hypoautofluorescence	MPC	ECRR
Case 5	F	<1 y	9y	PVADC	LP	LP	N/A	NA	NA	MPC	ECRR

ECR: extinguished cone response; ECRR: extinguished cone and rod response; HM: hand movement; LNRR: lower than normal rod response; LP: light perception; NA: not available; PVADC: photophobia, visual acuity decreased, congenital nystagmus; MPC: mottled pigmentary change.