Ophthalmic features of spinocerebellar ataxia type 7: A case report

Abstract

Patient: Male, 32-year-old Final Diagnosis: Spinocerebellar ataxia Symptoms: Ataxia • decrease in the visual acuity Medication: — Clinical Procedure: — Specialty: Ophthalmology Objective: Background: Case Report: Conclusions: Rare co-existance of disease or pathology Spinocerebellar ataxia (SCA) is an inherited progressive neurodegenerative disorder characterized by late-on-set cerebellar and brainstem dysfunction. It is an autosomal dominant condition with monoallelic pathogenic expansion in the ATXN7 gene. Patients have neurological deficits, including ataxia and dysarthria. Visual symptoms are the first presenting signs in patients with SCA type 7 (SCA7), including severely affected visual acuity and color vision, ocular motility impairment, and retinal macular degeneration. This is one of the first reports of the existence of keratoconus in a patient with SCA7. Few theories explain this coexistence, including vigor-ous rubbing of the eyes, and genetic and environmental etiologies. A 34-year-old man with SCA7 underwent genetic and ophthalmic investigations. Multiple family members of the patient had a positive history of ataxia. He had an abnormal posterior and anterior corneal elevation on Pentacam (Pentacam-Oculus, Optikgeräte GmbH, Wetzlar, Germany) and was eventually diagnosed with ker-atoconus in both eyes, which is not a known feature of SCA7. Later, he underwent a penetrating keratoplas-ty in the left eye with no subsequent improvement in vision. No further treatment was offered to the patient due to the guarded visual prognosis caused by the retinal pathology. He continues to have routine follow-ups in the Ophthalmology Clinic. This case reinforces the importance of recognizing the guarded visual outcome in these patients due to the macular degeneration and progressive nature of the disease. Therefore, appropriate and adequate patient coun-seling about the visual prognosis is essential before proceeding with any ocular surgical interventions.