CHORIORETINAL CHANGES IN A GENETICALLY CONFIRMED CASE OF BOUCHER-NEUHÄUSER SYNDROME

Area of Science:

• Ophthalmology
• Genetics
• Neurology

Background:

• Boucher-Neuhäuser Syndrome (BNS) is a rare genetic disorder.
• PNPLA6 gene mutations are associated with BNS.
• Retinal findings in BNS can be subtle.

Observation:

• A case report of a 25-year-old woman with BNS.
• Clinical presentation included primary amenorrhea and cerebellar ataxia.
• Genetic testing revealed missense and novel nonsense mutations in the PNPLA6 gene.

Findings:

• Multimodal imaging identified focal outer retinal and retinal pigment epithelium changes.
• Bilateral foveal stippling and hypopigmentation were observed.
• Optical coherence tomography revealed outer retinal attenuation and defects.

Implications:

• Subtle chorioretinal abnormalities are key diagnostic indicators for BNS.
• This case highlights mild retinal changes in a genetically confirmed BNS patient.
• Increased awareness of these findings aids in BNS diagnosis and management.