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