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

Table 1. Clinical data of affected individuals from family TB128

Patient ID Genotype Vision Hearing
Age at Diagnosis of Vision Impairment Visual
(best corrected) Visual
Field Color Vision† Funduscopic Findings FFERG ¶
Age at FFERG Testing LA Cone Flicker DA Mixed Response Amplitude DA Rod Response
Amp(μV) IT (msec) a wave (μV) b
wave (μV) Amp (μV)
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
c.2308delC het;
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
c.2308delC hom;
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
3 y 20 43 26 78 NR