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Study	Study design	N cases	Ethnicities	Sex (% ♂)	Mean AAO (+/- SD)	Reported mutations
El, 2013	Case report/Case series	1	n.a.	100%	1	p.Val691del: hom
Zhang, 2013	Mutational screen	1	A	100%	14	p.Ile689Phe + p.Gly373Arg: comp. het.
Agarwal, 2012	Case report/Case series	1	n.a.	100%	19	p.Ala80Thr: hom
Lu, 2012	Mutational screen	3	A	0%	19(+/-11)	p.Asp331Tyr: hom p.Ser359Ser + p.Asp331Tyr: comp. het.
Paisán-Ruiz, 2012	Case report/Case series	2	n.a.	0%	24	p.Arg37* + c.1078-3C>A: comp. het. p.Thr572Ile: hom
Yoshino, 2010	Case report/Case series	3	n.a.	67%	25(+/-5)	p.Arg635Gln + p.Phe72Leu: comp. het. p.Gln452*: comp. het.
Crompton, 2010	Case report/Case series	4	C	75%	2(+/-1)	c.(609+1_610-1)_(1186+1_1187-1)dup + p.Leu560Trpfs*5: comp. het. c.(797+1_798-1)_(1077+1_1078-1)del: hom
Sina, 2009	Family study	3	n.a.	67%	23(+/-2)	p.Arg632Trp: hom
Paisan-Ruiz, 2009	Mutational screen	3	n.a.	33%	18(+/-8)	p.Arg741Gln: hom p.Arg747Trp: hom