Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia

Table 1 Clinical features of the ACHM patients in this study

Patient ID	Gene	Mutation	Gender	Age		Clinical manifestation			BCVA		Fundus appearance		ERGs
Patient ID	Gene	Mutation	Gender	Exam	Onset	NYS	PP	PV	OD	OS	OD	OS	Rods	Cones
Family1-II:2	CNGA3	c.1074G > A; c.1706G > A	M	6 years	2 months	+	+	+	0.05	0.05	PFR	PFR	NA	NA
Family2-IV:1	CNGA3	c.968C > A; c.968C > A	M	29 years	<7 years	+	+	+	0.12	0.12	TDP	TDP	Normal	Severely reduced

M male, NYS nystagmus, PP photophobia, BCVA best corrected visual acuity, OD right eye, OS left eye, PV poor vision, PFR poor foveal reflex, TDP temporal disc pallor, ERGs electroretinograms, NA not available

ISSN: 1479-5876