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AP Sachdev, F Proudlock, R Abbott, I Gottlob; Kjellin Syndrome, a Fleck Retina Syndrome Associated with Abnormal Smooth Pursuit and Saccadic Eye Movements . Invest. Ophthalmol. Vis. Sci. 2002;43(13):2654.
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Purpose: Kjellin syndrome is a rare autosomal recessive neurodegenerative disease described previously in few families in Sweden and the USA. The disorder is characterized by dementia, spastic paraplegia and retinal flecks. We describe the first case in the UK and characterize for the first time eye movement abnormalities. Methods: A 32 year old female patient underwent neurological and ophthalmologic examination and was investigated with MRI, fluorescein angiography and electrophysiology. Infrared eye movement recordings were obtained on two separate visits, six months apart. Eye movement analysis included recordings of smooth pursuit, saccades and antisaccades. Results: The patient had cognitive decline, dysarthric speech, and lower limb spastic paraplegia with extensor plantars. Generalized brain atrophy was found on MRI. Visual acuity was full in both eyes. Fundus examination revealed yellow retinal lesions mainly centered around the maculae. Fluorescein angiography revealed characteristic features of retinal flecks with lesions causing central blocking of choroidal fluorescence surrounded by hyperfluorescence. Normal ERG and EOG responses with slightly delayed VEP latencies were found. Smooth pursuit was saccadic with square-wave and macrosquare-wave jerks. Initially saccades were within normal limits but became hypometric at the time of the second examination and were intruded by square-wave jerks. The patient was unable to perform antisaccades. Conclusion: The clinical presentation and fluorescein angiography of our patient are in accordance with the previous cases described with Kjellin's syndrome demonstrating that it exists in the UK. Abnormal eye movements can further characterize symptoms. Saccadic smooth pursuit with square-wave jerks and macrosquare-wave jerks; impaired saccades and antisaccades are comparable to those seen in other forms of dementia such as Alzheimer's disease.
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