Journal Article (Journal Article)

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 large area of nonperfusion in the temporal macula with corresponding retinal thinning on optical coherence tomography. There was an absence of a distinct foveal avascular zone and decreased density of both the superficial and deep vascular plexuses in the macula on optical coherence tomography angiography. There was diffuse loss of choriocapillaris architecture and decreased choroidal thickness. CONCLUSION: Patients with Poretti-Boltshauser syndrome may possess chorioretinal thinning and retinal vascular abnormalities appreciable on examination and multimodal imaging. These findings suggest a role for LAMA1 in retinal and choroidal vascular development.

Full Text

Duke Authors

Cited Authors

  • Cai, CX; Go, M; Kelly, MP; Holgado, S; Toth, CA

Published Date

  • May 1, 2022

Published In

Volume / Issue

  • 16 / 3

Start / End Page

  • 270 - 274

PubMed ID

  • 32195884

Pubmed Central ID

  • PMC7494654

Electronic International Standard Serial Number (EISSN)

  • 1937-1578

Digital Object Identifier (DOI)

  • 10.1097/ICB.0000000000000991


  • eng

Conference Location

  • United States