Title

ATROPHIC MACULOPATHY RELATED TO NEUROLOGICAL SYMPTOMS AND POSITIVE FAMILY HISTORY

Summary

Purpose: To report retinal findings in a 51-year-old man with a history of progressive vision loss and ataxia. Methods: A 51-year-old man presented with progressive vision loss for 2 years, associated with poor motor coordination and unsteady walk for 5 years. Family history was positive, with his mother, brother, and two maternal cousins ​​having similar symptoms. He underwent a full ocular examination, fundus photography, autofluorescence, and spectral-domain optical coherence tomography imaging, besides neurological and genetic evaluation. Results: At ophthalmologic examination, corrected vision was 0,15 in both eyes (OU) and slit-lamp examination was unremarkable. There were no pupillary reflexes defects or restrictions in ocular motility. Fundus examination revealed an increase in the excavation/disc ratio, besides foveal atrophy in OU. Fundus autofluorescence showed bilateral decreased autofluorescence in foveal region. Spectral-domain optical coherence tomographic imaging demonstrated foveal thinning with an outer defect because of focal loss of photoreceptors, with inner segment–outer segment junction and external limiting membrane disruptions. Molecular genetic testing identified one allele with abnormal CAG expansion in the ataxin 7 gene and revealed the diagnosis of Spinocerebellar Ataxia Type 7 (SCA7). Conclusion: SCA 7 should be included in the differential diagnosis for atrophic maculopathies, which also includes age-related macular degeneration, adult-onset foveomacular vitelliform dystrophy, central serous chorioretinopathy, Stargardt disease, and cone or cone–rod degeneration syndromes.

Area

CLINICAL CASE

Authors

Lívia da Silva Conci, Bárbara de Campos Fonseca e Andrade, Lívia Garcia Biselli, Felipe Ribeiro de Souza, Renato Rodrigues Pereima, Fernanda Maria Silveira Souto, Sergio Gianotti Pimentel