Table 1.

Patient and general population characteristics

	General population Netherlands 31 December 2018 (Netherlands 2019, 2020)	Total STGD1 population	Incident STGD1 cases 2014‐2018
Demographics
Female, n (%)	8654043 (50%)	445 (56%)	78 (56%)
Age, mean (SD)	42 yrs	47 (19) yrs	38 (20) yrs
Deceased, n (%)		28 (4%)	0 (0%)
Age at diagnosis, median (range)		24 (5‐83) yrs	36 (6‐83) yrs
Geographic ancestry European, n (%) North African/Middle Eastern, n (%) Southeast Asian, n (%) Sub‐Saharan African, n (%) Suriname, n (%) Other	(84%) (6%) (4%) (2%) (2%) (2%)	603 (83%) 60 (8%) 22 (3%) 15 (2%) 15 (2%) 11 (2%)	96 (76%) 19 (15%) 2 (2%) 4 (3%) 3 (2%) 2 (2%)
Genetics
Genetic test in patient or sibling performed, n (%) Genetically confirmed diagnoses in patient or sibling, n (%)		664 (83%) 615 (77%; 93% of performed tests)	131 (94%) 125 (89%; 95% of performed tests)
Patient’s and family history
Age at onset, median (range)		20 (1‐82)	32 (3‐82)
Positive family history STGD1, n (%)		308 (40%)	32 (23%)
Consanguinity, n (%)		61 (10%)	12 (11%)
Incident cases in 2014‐2018 are all cases who received the diagnosis STGD1 in 2014‐2018. STGD1 = Stargardt disease.