Table 1

Demographic and phenotypic data for N48K homozygotes

FamilySubjectGenderAge (years)Auditory phenotypeOcular phenotypeVestibular symptoms (ENG result)Notes
Age at onset (years)Most recent HL severityCommunication; rehabilitationAge at onset (years)Vision impairment
HL, hearing loss; HA, hearing aids; VF, visual field; CV, central vision; CI, cochlear implant; NA, not available; MD, macular degeneration; OD, right eye; OS, left eye.
LMG181III-1F306Moderate to profoundOral; HA10–11Good CV; 15° VFMild1. Endolymphatic shunt 2. Asymmetric hearing loss 3. Cataract surgery
II-3M525–6Mild to moderateOral; HA9–10Light perception, gross objects; minimal VFNone1. Cataract surgery
LMG187III-3M487–8ProfoundOral; CI4NANone1. Mumps encephalitis at 4 years
LMG191II-1M50Late teensModerate to profoundOral; HA5Totally blind since 38 yearsNone1. Asymmetric hearing loss
LMG195II-3F419–10Mild to severeOral; HA1020/60; good CV; <5° VFNone (normal)1. Cataract surgery 2. Otospongiosus at 20–30 years
II-2F443Severe to profoundOral; HA1220/70; good CV; 15°VFMild (normal at 14 years)1. Cataract surgery 2. Endolymphatic shunt at ~20 years
LMG198II-3F409–10SevereOral; HALate teensGood CV; limited VFNone1. Cataract surgery
II-1F467Severe to profoundOral; HA18Good CV; limited VFMild1. Cataract surgery
LMG199II-1M4933Mild to severeOral; HATeens20/40; can read; VF 5° OS, 15° ODNone
II-2M56TeensModerateOral; HA11Can’t read; VF <5°None1. MD and glaucoma OD 2. Cataract surgery
LMG201II-2F2618Moderate to severeOral; HA15Good CV; 20° VFNone
LMG202III-2F561–2Moderate to severeOral; HAEarly childhoodNo useful visionNone1. Ichthyosis; affected brother has USH and ichthyosis
LMG203IV-2F56>35Moderate to severeOral; HAEarly childhoodNo useful visionNone
LMG206III-2F546Severe to profoundSign + oral; HAEarly childhoodCan read large print; very limited VFNone1. Cataract surgery
LMG214II-3F605ProfoundSign + oral; CI920/200; can read large print; VF <5°None (normal)1. Cataract surgery
II-1F70InfancyProfoundSign + oral; no HA or CI17Light perception, gross objectsNone