Table 1 Medical history and clinical features in the proband and his brother

Face

craniofacial dysmorphism

+

-

Cone-rod dystrophy

onset age

<3 months

>3 months

photophobia

+

+

nystagmus

+

+

Blindness

7–8 years

-

Full-field electroretinography (ERG)

+

±

Fundus examination

+

+

Obesity

Obesity

+

-

Hearing loss

onset age

8–9 years

-

glue ear (long-standing sticky fluid in the middle ear)

-

-

Chronic otitis media

-

-

Sensorineural impairment

+

-

Diabetes

onset age

14 years

-

plasma insulin concentration

+

-

glucose intolerance

+

-

insulin resistance

-

-

acanthosis nigricans

-

-

Coronary artery disease

-

-

Diabetic peripheral neuropathy

-

-

+

+

-

-

+

-

-

-

-

-

-

-

-

-

-

-

-

-

-

-

-

-