RETINAL MANIFESTATIONS OF SPINOCEREBELLAR ATAXIA TYPE 7 IN TWO CONSECUTIVE GENERATIONS

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Abstract

Purpose:

To report a diagnosis of spinocerebellar ataxia Type 7 (SCA-7) first diagnosed in the daughter followed by the father, with proven genetic testing and display of progressive anticipation of disease penetrance.

Methods:

A 5-year-old African American female admitted for failure to thrive underwent full ocular examination and fundus photography, with genetic confirmation of SCA-7. The father carried a previous diagnosis of possible solar retinopathy; however, with further genetic testing, he was also found to have SCA-7.

Results:

The patient was admitted for failure to thrive with suspicion of ataxia neurodegenerative disorder. Visual acuity was hand motion. Fundus examination showed retinal pigment epithelium pigmentary changes in the macula and peripheral retina. Further genetic workup revealed 96 CAG repeat expansion compared with a normal of <20 repeats. Ocular examination of patient's father displayed a milder form of retinopathy with genetic testing showing 47 CAG repeat expansion. Diagnosis of SCA-7 was made displaying genetic anticipation.

Conclusion:

Spinocerebellar ataxia Type 7 is a disease of expanded CAG repeats showing genetic anticipation. Patients display progressive cerebellar ataxia, dysarthria dysphagia, slow saccadic eye movements, and cone photoreceptor loss leading to progressive vision loss. CAG repeat length tends to expand with transmission resulting in dramatic symptoms in offspring sometimes resulting in diagnosis before parents' diagnosis. Awareness of this condition may help in earlier diagnosis and unnecessary testing resulting in more effective counseling for the patient and their family.

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