Table.

Clinical and Molecular Characteristics of the 9 Patients With NPHP5 Variations

Patient No./Sex	Age at Visit, y	Nucleotide Change	Protein Change	Nucleotide Change	Protein Change	Visual Acuitya		Refractionb	ERG	Renal Disease
		Allele 1	Allele 1	Allele 2	Allele 2	OD	OS
1/F	4	c.333delT	Ala111del1gcT	c.1381C>T	Arg461Stop	U	U	+6.75	ND	Severe (by age 13 y)
	23					20/80	20/200	NP
2/M	5	c.1465C>T	Arg489Stop	c.1516-1517delCA	His506del2cagCA	LP	LP	+7.50	NP	None manifestc,d
3/M	7	c.1516-1517delCA	His506del2cagCA	c.1516-1517delCA	His506del2cagCA	20/400	20/800	+6.00	ND	None manifestd,e
4/M	13	c.1381C>T	Arg461Stop	c.1516-1517delCA	His506del2cagCA	20/200	20/200	+4.00	ND	None manifestd
5/M	14	c.1381C>T	Arg461Stop	c.1465C>T	Arg489Stop	HM	HM	NP	ND	Severe (by age 13 y)
6/F	8	c.1363C>T	Arg455Stop	c.421-422delTT	Phe141del2cacTT	20/200	20/200	+6.00	NP	None manifestd
7/F	3	c.1036G>T	Glu346Stop	c.1516-1517delCA	His506del2cagCA	20/1000	20/1000	+9.00	ND	None manifestd
	12					HM	HM	+5.00	NP	None manifestd
	19					LP	LP	NP	NP	Elevated creatinine level
8/F	1	c.1381C>T	Arg461Stop	c.1516-1517delCA	His506del2cagCA	20/260	20/290	+6.50	ND	None manifest
	3					LP	LP	NP	NP
9/F	14	c.1381C>T	Arg461Stop	c.1381C>T	Arg461Stop	LP	LP	+5.25	NP	None manifest

Abbreviations: ERG, electroretinogram; HM, hand motions; LP, light perception; ND, not detectable; NP, not performed; U, unreliable.

^aBest-corrected visual acuity.

^bSpherical equivalent.

^cUreterocele, ureteral duplication.

^dNormal blood urea nitrogen and creatinine levels.

^eHyperaldosteronism.