Mutation screening of the USH2A gene reveals two novel pathogenic variants in Chinese patients causing simplex usher syndrome 2

Table 1 The clinical information of the patients

Patient number	Gender	Diagnosis	Inheritance pattern	Onset age	ERG	Fundus appearance	Hearing impairment	Vestibular function	Night blindness
001	M	USH2	autosomal recessive	21	no reaction	RP	Severe	Normal	Yes
002	M	USH2	autosomal recessive	21	no reaction	RP	Moderate	Normal	Yes
003	F	USH2	autosomal recessive	19	no reaction	RP	Moderate	Normal	Yes
004	F	USH2	autosomal recessive	23	no reaction	RP	Severe	Normal	Yes

ISSN: 1471-2415