Novel mutations and the ophthalmologic characters in Chinese patients with Wolfram Syndrome

Table 1 Clinical characters of patients with wolfram syndrome

Case no.	Age	Sex	Family history	DM, age of diagnosis	Presenting age of impaired vision	OA, age of diagnosis	DI, age of diagnosis	HI, age of diagnosis	Other features, age of diagnosis	BCVA
1	11 years	M	Positive * (brother)	Type I, 9 years	Bilateral, 9 years	Bilateral, 10 years	Central DI, 11 years	Bilateral HF, 11 years	Abnormal MRI of brain,*** 11 years Abnormal EEG, 12 years	OD: 20/400 OS: 20/400
2	26 years	M	Positive ** (sister)	Type I, 10 years	Bilateral, 7 years	Bilateral, 7 years	No	No	No	OD: 20/400 OS: 20/400
3	42 years	M	Negative	Type I, 28 years	Bilateral, 39 years	Bilateral, 42 years	No	Bilateral HF	No	OD: 20/60 OS: 20/100
4	24 years	M	Negative	Type I, 10 years	Bilateral, 15 years	Bilateral, 24 years	No	Bilateral sensorineural deafness, 2.3 years	Left-sided glaucoma, 24 years	OD: 20/25 OS: 20/400

DM Diabetes Mellitus, OA Optic Atrophy, DI Diabetes Insipidus, HI Hearing Impairment, HF High-frequency Hearing Impairment, BCVA Best Corrected Visual Acuity, EEG Electroencephalography, OD right eye, OS left eye. *Patient 1 had a brother who acquired diabetes mellitus at around 10 years old and died at 17 years old with ketosis encephalopathy. **Patient 2 has a 27 years old sister who was diagnosed with DM at 11 years old and had poor visual acuity since 16 years old. ***Patient 1 showed the absence of the physiological high signal of the posterior pituitary gland on T1WI of cranial MRI

ISSN: 1750-1172