BOUCHER-NEUHAUSER SYNDROME: CHORIORETINAL CHANGES IN A SINGLE CASE OVER TIME

The aim of this study was to describe chorioretinal changes in a single case of Boucher-Neuhauser syndrome over 45 years of follow-up.

Retrospective chart review was performed. Color fundus photography from 1977 to 2003 was obtained and digitized. Current fundus photography was obtained with widefield imaging. High-resolution spectral-domain optical coherence tomography was performed. Genetic analysis was performed using an inherited retinal disorders panel.

Fundus examination demonstrated central chorioretinal atrophy with sclerotic choroidal vessels. Short posterior ciliary arteries became more prominent and tortuous over time. Mid-peripheral atrophy extends to the equator and demonstrates a scalloped pattern with islands of atrophy intervening with areas of normal retina. The far periphery remained minimally affected. High-resolution optical coherence tomography demonstrated outer retinal atrophy and choriocapillaris loss. Genetic testing showed a homozygous variant for patatin-like phospholipase domain-containing 6 and a heterozygous variant for tyrosinase-related protein 1.

Chorioretinal changes in Boucher-Neuhauser syndrome vary in onset and severity. It is important to diagnose this condition to begin timely management of visual and systemic sequelae.