SLC37A3-associated retinitis pigmentosa: a case report of clinical features and three-year follow up.

Purpose: To describe a case of SLC37A3-associated retinitis pigmentosa (RP) and associated imaging and electroretinography findings.

Methods: The patient was evaluated at Columbia University Irving Medical Center using a comprehensive multimodal imaging protocol that included color fundus photography, fundus autofluorescence (FAF), and spectral-domain optical coherence tomography. Functional assessments were conducted using full-field electroretinography (ERG), following the ISCEV standard protocols to ensure consistent and reproducible measurements of photoreceptor activity.

X-Linked CGD Chorioretinitis in Two Young Girls.

Background: Chronic granulomatous disease (CGD) is a rare genetic disorder that causes primary immunodeficiency. In addition to increasing infection susceptibility in various bodily systems, several ocular manifestations have been described in males. This condition is well described in males, due to its X-linked recessive inheritance.