Журнал клинических случаев

Neuropsychiatric Syndrome in Choroideremia - A Rare Case Report

Abstract

Pooja Misal, Nimitha K.J*, Porimita Chutia and Bhupendra Singh

Biomarkers of Alzheimer’s disease (AD) and other neurodegenerative disorders are most exploring areas of clinical research in Geriatric Psychiatry. Presently neuroimaging, blood and CSF biomarkers are expensive and invasive to perform and are considered impractical for research purpose. The retinal presents a readily accessible tissue for monitoring the brain and could potentially be used in combination with or as a substitute for current AD and other neurodegenerative disease biomarkers. Data on retinal involvement in AD and neurodegenerative diseases have been controversial and inconsistent. So, we are reporting a case of Choroideremia with neuropsychiatric presentations and complications.