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

Area of Science:

• Ophthalmology
• Medical Genetics
• Retinal Diseases

Background:

• Boucher-Neuhauser syndrome is a rare genetic disorder.
• Characterized by albinism and progressive vision loss.
• Chorioretinal changes are a key feature, but their long-term progression is not well-documented.

Purpose of the Study:

• To describe the evolution of chorioretinal changes in a single case of Boucher-Neuhauser syndrome.
• To document the 45-year progression of ocular findings.
• To correlate genetic findings with observed phenotypes.

Main Methods:

• Retrospective chart review and analysis of fundus photography spanning 45 years.
• Utilized widefield imaging and high-resolution spectral-domain optical coherence tomography (SD-OCT).
• Performed genetic analysis using an inherited retinal disorders panel.

Main Results:

• Observed progressive central chorioretinal atrophy and sclerotic choroidal vessels.
• Noted increasing prominence and tortuosity of short posterior ciliary arteries.
• Documented mid-peripheral atrophy with a scalloped pattern and outer retinal/choriocapillaris loss on SD-OCT.
• Identified genetic variants: homozygous for patatin-like phospholipase domain-containing 6 and heterozygous for tyrosinase-related protein 1.

Conclusions:

• Chorioretinal changes in Boucher-Neuhauser syndrome exhibit variable onset and severity.
• Highlights the importance of timely diagnosis for managing associated visual and systemic sequelae.
• Emphasizes the utility of long-term follow-up and advanced imaging in understanding rare genetic eye conditions.