Molecular Vision: Goldenberg-Cohen, Mol Vis 2013; 19:1565-1571. Table 1

Table 1. Clinical data of affected individuals from family TB128

Patient ID	Genotype	Vision											Hearing
		Age at Diagnosis of Vision Impairment	Visual Acuity (best corrected)	Visual Field^║	Color Vision†	Funduscopic Findings	FFERG ¶
							Age at FFERG Testing	LA Cone Flicker		DA Mixed Response Amplitude		DA Rod Response
							Age at FFERG Testing	Amp(μV)	IT (msec)	a wave (μV)	b wave (μV)	Amp (μV)
II-1	MYO7A c.2308delC hom	10 y	R 6/10 L 6/7.5 (15y)	BE Full (15y)	Ish, BE normal (15y)	Cells in vitreous; Retina: peripheral temporal atrophy, degenerative changes in periphery, with mild attenuation of the blood vessels (15y)	12 y	9	42	24	22	10	Congenital, bilateral profound SNHL
II-3	MYO7A c.2308delC het; PDE6B c.1417delC hom	7 y	BE 6/8.5 (13y)	BE peripheral temporal loss (mainly of the lower temporal VF) (13y)	Ish, BE normal (13y)	Optic discs: tilted waxy pallor; severe attenuation of retinal blood vessels; marked bone spicule-type pigmentation in the entire periphery (13y)	7 y	31	37	26	55	NR	Normal
II-4	MYO7A c.2308delC hom; PDE6B c.1417delC hom	9 m	BE 6/15 (32m)	BE Full (32m)	Abnormal‡ Did not follow color tracks (32m)	Optic discs are oval with temporal peripapillary atrophy; mild attenuation of retinal blood vessels, no pigmentary changes (32m)	9 m	19	40	ND	ND	ND	Congenital, bilateral profound SNHL
II-4	MYO7A c.2308delC hom; PDE6B c.1417delC hom	9 m	BE 6/15 (32m)	BE Full (32m)	Abnormal‡ Did not follow color tracks (32m)		3 y	20	43	26	78	NR	Congenital, bilateral profound SNHL

Hom, homozygote; het, heterozygote; y, years; m, months; R, Right eye; L, Left eye; BE, both eyes; SNHL, sensorineural hearing loss ^║Visual Field: confrontation †Color Vision: Ish=Ishihara PseudoIsochromatic plates color test ‡Did not follow color tracks, possibly due to misunderstanding of test instructions ¶ FFERG=Full field electroretinography, including the following details: Light-adapted (LA) Cone flicker amplitude (Amp, normal 60–144 μV) and implicit time (IT, normal 27–33 msec). Dark-adapted (DA) mixed cone-rod a and b-wave amplitudes (normal a-wave 90–350 μV, normal b-wave 380–630 μV); Dark-adapted rod response b-wave amplitude (normal range 200–500 μV). NR=Non Recordable; ND=Not done; In patients II-1 and II-4 electroretinographic responses were largely symmetric, so presented as average of the two eyes. In patient II-3 only the RE was tested.