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Study	Study design	N cases	Ethnicities	Sex (% ♂)	Mean AAO (+/- SD)	Reported mutations
Haugarvoll, 2011	Case report/Case series	2	n.a.	100%	3(+/-3)	p.Arg441Pro + p.Asp498Gly: comp. het. p.Arg233His + p.Gly414Arg: comp. het.
Ormazabal, 2011	Case report/Case series	1	n.a.	0%	2	c.1197+25_1397del + c.-70G>A: comp. het.
Yeung, 2011	Case report/Case series	10	A	40%	2(+/-3)	p.Gln232* + p.Arg233His: comp. het. p.Gly294Arg + c.1197+5G>C: comp. het. p.Gly247Ser + p.Gly408Arg: comp. het. p.Arg153*: comp. het. p.Gly315Ser + p.Ala385Val: comp. het. p.Ile394Thr: comp. het. p.Arg233His: hom Show more (+4)
Yosunkaya, 2010	Sib pair study	3	n.a.	100%	0(+/-0)	p.Pro492Arg: hom
Clot, 2009	Mutational screen	3	n.a.	0%	1(+/-0)	p. Ser467Gly + p.Phe375Leu: comp. het. p.Arg319Pro + p.Gly414Arg: comp. het. p.Pro301Ala: hom
Zafeiriou, 2009	Case report/Case series	1	C	100%	0	p.Leu236Pro: hom
Wu, 2008	Family study	1	A	0%	3	p.Arg233His + p.Gly247Ser: comp. het.
Giovanniello, 2007	Case report/Case series	1	C	100%	2	p.Gly414Arg + p.Leu510Gln: comp. het.
Ribasés, 2007	Case report/Case series	1	C	0%	0	c.-71C>T: hom
Yeung, 2006	Sib pair study	2	A	50%	0(+/-0)	p.R169* + p.Arg233His: comp. het.