Table 2 Ophthalmological and audiological findings in the AGBL5 index cases.
Ophthalmological findings | Audiological findings | ||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Family ID | Patient ID | Clinical diagnosis | Symptoms onset | Visual Field | Visual acuity | Fundus | Macular involvement | Lens | ERG | HL onset | HL type and severity | PTA | Frequencies | Progression | |
F1 | P1 - IT | RP and hearing loss | 14 y | n.a. | HM (RE, LE) | vessel attenuation, diffuse RPE dystrophy, BSP in mid-periphery | atrophy | pseudophakia | unrecordable | 18 y | moderate SNHL | 59 dB (RE, LE) | bilateral, symmetric; sloping audiogram; mainly intermediate-high frequencies (500–8000 Hz) | no | |
F2 | P2 - IT | RP and hearing loss | 14 y | 5° central (RE), n.a. (LE) | 0.2 D (RE), HM (LE) | waxy ONH palor, vessel attenuation, diffuse RPE dystrophy, BSP in mid-periphery | atrophy | pseudophakia | unrecordable | post-verbal | mild-to-moderate SNHL | 39 dB (RE), 38 dB (LE) | bilateral, symmetric; intermediate frequencies (500–2000 Hz) | no | |
F3 | P3 - ES | RP and hearing loss | >10 y | <10° (RE, LE) | 0.3 D (RE, LE) | waxy ONH palor, vessel attenuation, pigment deposits in periphery | dystrophy | pseudophakia | n.a. | 50 y | moderate SNHL | 50 dB (RE), 49 dB (LE) | bilateral, symmetric; sloping audiogram; mainly intermediate-high frequencies (500–8000 Hz) | no | |
F4 | P6 - PS | RP and hearing loss | n.a. | n.a. | 0.5 D (RE, LE) | vessel attenuation, no BSP | CME | posterior subcapsular cataract | unrecordable | 7 y | mild-to-moderate SNHL | 39 dB (RE), 46 dB (LE) | low-to-mid frequencies | n.a. | |
F5 | P7 - PS | RP and hearing loss | n.a. | n.a. | 0.16 D (RE, LE) | vessel attenuation, BSP | no | posterior subcapsular cataract | unrecordable | 5 y | moderate SNHL | 49 dB (RE, LE) | mild in low and high frequencies, moderate in mid frequencies | n.a. | |
F6 | P8 - CH | RP and hearing loss | 14 y | <15° (RE, LE) | 0.1 D (RE, LE) | foveal and peripapillary atrophy, pathes of atrophy in mid-periphery | atrophy | pseudophakia | unrecordable | not perceived by the patient | subclinical SNHL | 19 dB (RE), 15 dB (LE) | high frequencies | n.a. | |
F7 | P9 - CH | RP and hearing loss | 20 y | <10° visual field (LE); RE enucleated due to phtisis following retinal detachments in early adulthood | 1.5 D (LE) | waxy ONH palor, vessel attenuation, peripheral BSP and retinal atrophy | no | pseudophakia | n.a. | congenital | moderate-to-severe SNHL | 65 dB (RE), 75 dB (LE) | moderate in low-to-mid frequencies, severe in high frequencies | no | |
F8 | P10 - GR | RP and hearing loss | 25 y | n.a. | 0.16 D (RE), 0.125 D (LE) | vessel attenuation, peripheral outer retinal atrophy and BSP | atrophy | pseudophakia | n.a. | 58 y | moderate SNHL | 51 dB (RE), 50 dB (LE) | bilateral, flat audiogram | no | |
