Table 2 of Imtiaz, Mol Vis 2012; 18:1885-1894.

Table 2. Comparison of molecular, audiological, ophthalmological and clinical findings in all reported USH1G patients to date.

Clinical, genetic and patient information Weil et al. [3] Ouyang et al. [5] Kalay et al. [6] Mustapha et al. [2] Weil et al. [3] Bashir et al. [7] Present study
Mutation c.142C>T (p.L48P)/186–187delCA c.113G>A (p.W38X) c. 1373A>T (p.D458V) c.832–851del20 c.393insG c.163_164+13del15 c. 728C>A (p.S243X)
Consequences Missense/frameshift Nonsense Missense Frameshift Frameshift Frameshift Nonsense
Country Germany USA Turkey Jordan Tunisia Pakistan Saudi Arabia
Number of cases 2 (familial) 2(sporadic) 6 (familial) 3 (familial) 8 (familial) 4 (familial) 3 (familial)
Hearing loss Profound Profound Prelingual (moderate to profound) HL Prelingual profound HL Congenital profound HL Moderate to severe HL Congenital profound HL
Visual acuity ND ND Normal ND ND Mild loss of near-sight vision Normal with very constricted visual fields
Funduscopy ND ND Variable bone spicules and peripheral retinal pigmentary atrophy. No waxy pallor of optic discs, mild RP Variable RP Severe RP Pale optic discs, mild RP Normally looking macula surrounded by an abnormal peripheral atrophic retina. No evidence of pigmentary migration
ERG ND ND ND Variably severe retinal degeneration Severe RP ND Flat in all members
Vestibular function ND ND Normal Abnormal Abnormal Normal Abnormal
Cochlear implant ND ND ND ND ND ND Successful