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

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

Methods: 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.

Results: 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.

Conclusion: 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.