Table. .
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.