Posterior Polar Hemispheric Choroidal Dystrophy: Case Report and Presentation of Genetic Screening.
作者信息
Tabbaa Tarek, Daroszewski Daniel, Sobol Warren
机构信息
Department of Ophthalmology-Vitreoretinal Surgery, Case Western Reserve University-University Hospitals, Cleveland, OH, USA.
出版信息
J Vitreoretin Dis. 2022 May 13;6(6):485-490. doi: 10.1177/24741264221080381. eCollection 2022 Nov-Dec.
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.
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