OCULAR MANIFESTATIONS OF PORETTI-BOLTSHAUSER SYNDROME: FINDINGS FROM MULTIMODAL IMAGING AND ELECTROPHYSIOLOGY.

ABSTRACT:

Background/purpose

Poretti-Boltshauser syndrome is a rare, nonprogressive neurologic syndrome with characteristic cerebellar cysts on neuroimaging due to mutations in LAMA1. The ophthalmic findings in Poretti-Boltshauser syndrome are not well described. Here, we report the ophthalmic findings from multimodal imaging and electrophysiology of a patient with genetically confirmed Poretti-Boltshauser syndrome.

Methods

A 3-year-old boy with confirmed mutations in LAMA1 underwent examination under anesthesia with electroretinography and multimodal imaging including fundus photography, fluorescein angiography, optical coherence tomography, and optical coherence tomography angiography.

Results

Dilated fundus examination was notable for retinal vascular anomalies, including a

SUBMITTER: Cai CX 

PROVIDER: S-EPMC7494654 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature