Article ; Online: Boucher-Neuhauser Syndrome: Chorioretinal Changes in a Single Case Over Time.
Retinal cases & brief reports
2024
Abstract: Purpose: To describe chorioretinal changes in a single case of Boucher-Neuhauser Syndrome (BNHS) over 45 years of follow-up. Methods: Retrospective chart review was performed. Color fundus photography from 1977 to 2003 was obtained and digitized. ... ...
Abstract | Purpose: To describe chorioretinal changes in a single case of Boucher-Neuhauser Syndrome (BNHS) 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 (OCT) 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 OCT demonstrated outer retinal atrophy and choriocapillaris loss. Genetic testing showed a homozygous variant for PNPLA6 and a heterozygous variant for TYRP1. Conclusion: Chorioretinal changes in BNHS vary in onset and severity. It is important to diagnose this condition in order to begin timely management of visual and systemic sequelae. |
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Language | English |
Publishing date | 2024-03-06 |
Publishing country | United States |
Document type | Journal Article |
ISSN | 1937-1578 |
ISSN (online) | 1937-1578 |
DOI | 10.1097/ICB.0000000000001556 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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