Dr.Parth Amardeeep Patil
Spinocerebellar ataxia type 7 (SCA7) is characterized by progressive cerebellar ataxia, dysarthria and dysphagia, and cone-rod dystrophy with progressive central visual loss resulting in blindness in affected adults. Onset in early childhood or infancy has a rapid and aggressive course often associated with failure to thrive and regression of motor milestones.
Presenting a case of 17 year old girl with defective vision in both the eyes since four years, and photophobia and inability to maintain the balance since last two years. Her pupils were sluggishly reactive and fundus examination revealed bilateral disc pallor. Cerebellar signs were positive. OCT showed bilateral foveal thinning with photoreceptor layer loss and RPE irregularities. ERG showed extinguished photopic and diminished scotopic response. MRI brain showed cerebellar atrophy.
This case is selected for its rarity, stressing the importance of early investigations to provide supportive care early on in the disease.
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