PMC9056216_01
(a) Audiogram at presentation at 12 years of age. Bilateral severe sensorineural hearing loss. (b) Audiogram at 22 years of age. Profound sensorineural hearing loss over right ear and severe hearing loss over left ear.
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He was diagnosed to have bilateral sensorineural hearing loss at the age of 7 and required hearing aids.  Figure 1 shows his audiogram in earlier years and subsequent deterioration.
Audiogram at presentation at 6 years of age. Bilateral severe sensorineural hearing loss at 60-90 dB.
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Subsequently, her hearing deteriorated, resulting in profound hearing loss of 80 dB 4 years later.  Figure 2 shows her audiogram.
Optic coherence tomography scan showing a patch of atrophy in the outer retina inferotemporal to the fovea with photoreceptor layer disruption.
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The findings were compatible with rod cone dystrophy.  Figure 3 shows her optic coherence tomography scan.
MRI brain showing T1 hyperintensities at caudate head, putamen, and thalamus caused by calcium.
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Figures 4 and 5 show her MRI abnormalities.
MRI brain showing T2 hyperintensities at posterior and bilateral pons.
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Figures 4 and 5 show her MRI abnormalities.