Table 1.

Demographic characterization of the cohort

Number of families (number of patients)		100 (122)
Male gender: n (%)		65 (53.3%)
Age: mean ± SD (years)		44.6 ± 15.1
Family history, n (%)		65 (53.3%)
Consanguinity, n (%)		44 (36.1%)
Age of symptom onset, n (%)	Diagnosis	All patients	Usher syndrome	BBS
	≤ 5 years	19 (15.6%)	10 (13.5%)	6 (24.0%)
	6–10 years	27 (22.1%)	12 (16.2%)	10 (40.0%)
	11–20 years	29 (23.8%)	20 (27.0%)	2 (8.0%)
	21–30 years	14 (11.5%)	8 (10.8%)	1 (4.0%)
	31–50 years	15 (12.3%)	14 (18.9%)	0 (0%)
	Unknown	18 (14.8%)	10 (13.5%)	6 (24%)

Data presented per patient. Age of symptom onset is presented for all patients and the two most common diagnoses

BBS, Bardet-Biedl syndrome