Table 4.

Genotype-phenotype correlations of USH patients with both mutations found in this study

Patient	Mutations	Year of Birth	Diagnosis	Age of diagnosis	Sensorineural Hearing Loss	Vestibular Function	Onset of Night Blindness	Onset of Visual Field Loss	Visual Field	Visual Acuity	Eye Fundus	ERG	Cataracts
RP1310*	c.12067-2A > G/c.12067-2A > G		USHNC
RP1274*	p.E1492X/p.E1492X	1969	USH2		Moderate-severe and stable	NormalA					1
RP1633	p.E1492X/p.E1492X	1962	USH2	25	Since infancy	NormalA	25	25	Concentric loss	0,2/0,4	1	No response	BE
RP1607	p.G3546R/p.G3546R	1925	USH2	33	Mild-moderate	NormalA	16	25	Marked concentric loss	0,6/0,6	1	Moderate alteration	BE
RP1599*	c.1214delA/c.1214delA	1980	USH2		Moderate, since infancy	NormalA	20	30	Moderate concentric loss	0,6/0,7	1	Moderate alteration	BE
RP259	c.1214delA/p.C3267R	1974	USHA	19	Profound since 6 years	Vestibular DysfunctionA	6		Concentric loss (19 years)	0,35/0,35 (19 years)	1	No response	No (19 years)
RP1349	c.2299delG/c.1214delA	1954	USH2		Moderate-severe	NormalB	15	20	Marked concentric loss	0,4/0,3 (30 years)	2
RP1493	c.2299delG/c.8890dupT	1973	USH2	30	Congenital, moderate and stable	NormalB	29	29	Concentric loss (at 31 years)	Normal (31 years)	1	No response (31 years)	No (31 years)
RP1632	c.2299delG/c.8954delG	1961	USH2		Since infancy	NormalB	23	25		<0,1BE	2	No response	BE
RP1715*	c.2299delG/c.1629_1645del	1986	USH2	22	Moderate and stable since 6 years	NormalB	16	20	Slight concentric loss (at 25 years)	Normal (25 years)	1	No response	No
RP1775	c.2299delG/p.R303H#	1961	USHA	30	Moderate since 7 years and progressive		23	22
RP1618	p.C3267R/c.6319_6324delinsTAAA	1964	USH2		Severe-profound	NormalA	30	30	Marked concentric loss	0,1/0,1	2	No response	BE
RP1442*	p.C3267R/c.12093delC	1962	USH2	20	Congenital, moderate and stable	NormalB	15	20	Concentric loss, 5° (at 43 years)	0,5/0,2 (43 years)	2		LE (37 years) RE (43 years)
RP1703*	p.C3267R/p.C3358Y	1936	USHA	50	Since 64 years		50	55	Reduced (67 years)		1		Yes
RP1759	p.C3267R/p.Y1992C#	1945	USH2	62	Congenital, moderate and stable	NormalB		62				Abnormal response	Yes (62 years)
RP1625*	c.12067-2A > G/p.R274X	1976	USH2	25	Since infancy	NormalA	19	24	Concentric loss	0,1/0,1	2	No response	BE
RP1631	c.1841-2A > G/p.R274X	1976	USH2		Since infancy	NormalA	28	28	Concentric loss	0,7/0,6	1		No
RP951	c.1214delA/p.C3251X	1969	USH2	25	Congenital, severe and stable	NormalB	25	18	Reduced (23 years)		2	No response (30 years)	No (30 years)
RP1558	p.R1549X/c.1328 + 1G > T	1933	USH2	43	Severe and progressive since 20 years	NormalB	Before puberty		-10°C	0,007/0.03	2
RP1539*	p.R1295X/p.N3894D#	1987	USH2	20	Congenital, moderate and stable	NormalB	20	17	Concentric loss (20 years)		2
RP1172*	c.10272_10273dupTT/p.W2618X	1964	USH2	23	Moderate and stable since 7 years	NormalB	23	18	Concentric loss (38 years)			No response (39 years)
RP1641*	p.C759F/p.W4725X	1967	USHA		Moderate and progressive	Central vestibular pathologyA	18	22	Marked concentric loss	0,1/0,2	2	No response	BE
RP1667*	p.C759F/c.11548 + 2T > G	1954	USH2	15	Mild and slightly progressive	NormalB	15	8					RE (30 years)
RP690M*	p.P4818L/p.Q3368X + c.5278delG	1972	USH2	22	Congenital, moderate and stable	NormalA	22	8		0,3/0,3 (32 years)	1	No response (31 years)	BE (25 years)
RP532	p.Y506X/p.Q3587X	1968	USH2		Profound	NormalA	15	20	Marked concentric loss	0,1/0,1	2	No response	BE
RP946*	p.Q3587X/p.E2496E	1982	USHNC	17
RP1613	c.9260delT/p.G44R	1971	USH2	30	Severe	NormalA	20	20	Marked concentric loss	0,1/0,6	2	Abnormal response	BE
RP1615	c.11566delA/c.15053-1G > A	1975	USH2	27	Moderate since infancy	NormalA	24	25	Marked concentric loss	0,5/0,5	2	No response	BE

*Parental origin of the mutations was determined; ^#Patients with possibly pathogenic mutations (UV3).

Age of diagnosis, onset of night blindness and visual field loss are expressed in years.

^A: results of clinical examinations; ^B: self reported symptoms.

Eye fundus 1: Bone spicules deposits, attenuation of vessels and waxy pollar of the optic nerve head. Eye fundus 2: 1 + macular affectation.

ERG: Electroretinography; BE: Both Eyes; LE: Left Eye; RE: Right Eye.

Patients clinically classified as USHA or USHNC are highlighted in bold.