![]() ![]() (2012) stated that the condition was most consistent with the type III variant of Usher syndrome, characterized by progressive vision and hearing loss during early childhood. Patients had delayed gross motor development, hyperactive patellar tendon reflexes, mild truncal ataxia, and a wide-based gait, but upper limb coordination and reflexes, peripheral nerve function, strength, tone, and intelligence were normal. Amplifiers or cochlear implants partially restored hearing. ![]() Although no auditory data were available from newborns, some auditory function was present during infancy and deteriorated during early childhood, with all evoked auditory waveforms being absent by age 5. Patients were typically blind by the second or third decade of life, but the pace of visual deterioration was highly variable. Funduscopic changes included marked attenuation of retinal vessels, cellophane-like reflex that produces a 'bull's eye' macula, and diffuse pigmentary stippling of the peripheral retina, consistent with retinitis pigmentosa. Visual impairment became evident during early childhood with the emergence of fine horizontal nystagmus, light aversion, and optic pallor. Growth and development were normal during infancy. (2012) studied Usher syndrome patients from Old Order Amish families in Pennsylvania. Usher syndrome, type IIC, GPR98/PDZD7 digenic Usher syndrome, type 2C, GPR98/PDZD7 digenic ![]()
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