Posterior Polar Hemispheric Choroidal Dystrophy: Case Report and Presentation of Genetic Screening

Abstract

Purpose: Posterior polar hemispheric choroidal dystrophy is a rare dystrophy affecting the choroid and retina with a characteristic clinical appearance that distinguishes it from a broad variety of other retinal diseases. The disease process has a morphology described in the literature that preferentially affects the outer macula and spares the fovea with no arteriolar attenuation or optic nerve pallor. Methods: This case report illustrates the use of multimodal retinal imaging, visual field testing, electroretinogram, and genetic testing of a patient who we believe fits the clinical pattern established by previous studies describing this condition. Results: Fundus imaging in addition to further imaging modalities such as fluorescein angiography helped further characterize this disease process and aided in the diagnosis. In addition, genetic testing revealed unique allele variants found in this patient. Conclusions: By taking a multifaceted approach to the diagnosis of retinal pathology, clinicians can make informed decisions regarding patient care.