Table. .

Clinical Features of Patients With NEUROD1 Mutations

	Proband	Proband's Affected Sister
Sex/age	M/33*	F/40*
Age of onset	18	10
BCVA, OD/OS	0.6/0.6	0.1/0.15
Anterior segment	NA	Dense subcapsular cataract
Fundus	Bone-spicule pigmentation in the mid-periphery	Diffused RPE and choroidal atrophy with bone-spicule pigmentation
OCT	Increased retinal thickness in the macular region with discontinuous IS/OS junction	No clear image because of cataract
VF	Loss of upper and temporal visual field	NA
ERG	Moderately decreased rod and cone responses	Nonrecordable
BMI	20.2	18.4
FBG, mmol/L	5.4	5.1
HbA1c, %	6.5	6.2
Neurological abnormality
Developmental delay	No	No
Ataxia	No	No
Sensorineural deafness	No	No
Seizure	No	No

VF, visual field; BMI, body mass index; FBG, fasting blood glucose; HbA1c, glycosylated hemoglobin.

^* All of the ophthalmic and neurological clinical data were taken at age 33 and 40, respectively. BMI, FBG, and HbA1c were taken 2 years later.