Related Experiment Video
Updated: Dec 25, 2025
12:22
Multimodal Volumetric Retinal Imaging by Oblique Scanning Laser Ophthalmoscopy oSLO and Optical Coherence Tomography OCT
Published on: August 4, 2018
8.8K
OCULAR MANIFESTATIONS OF PORETTI-BOLTSHAUSER SYNDROME: FINDINGS FROM MULTIMODAL IMAGING AND ELECTROPHYSIOLOGY
Cindy X Cai1, Michelle Go1, Michael P Kelly1
1Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina; and.
Retinal Cases & Brief Reports
|March 21, 2020
Summary
Poretti-Boltshauser syndrome, caused by LAMA1 mutations, can present with retinal vascular anomalies and chorioretinal thinning. These findings highlight LAMA1's role in ocular vascular development.
Area of Science:
- Ophthalmology
- Genetics
- Neurology
Background:
- Poretti-Boltshauser syndrome is a rare neurological disorder characterized by cerebellar cysts, linked to LAMA1 gene mutations.
- Ophthalmic manifestations of this syndrome are not well-documented.
Observation:
- A case study of a 3-year-old boy with genetically confirmed Poretti-Boltshauser syndrome.
- Comprehensive ophthalmic evaluation included electroretinography and multimodal imaging.
Findings:
- Retinal vascular anomalies, including macular nonperfusion and thinning, were observed.
- Reduced density of macular vascular plexuses and loss of choriocapillaris architecture were noted.
- Optical coherence tomography angiography revealed an absent foveal avascular zone.
Implications:
- This study details the ophthalmic findings in Poretti-Boltshauser syndrome.
- LAMA1 mutations may contribute to retinal and choroidal vascular development abnormalities.
- Multimodal imaging is crucial for identifying these ocular manifestations.
Related Concept Videos
01:21Aneurysm II: Clinical Manifestations and Diagnostic Studies
149
Thoracic, aortic arch and abdominal aneurysms are significant vascular conditions that can present with various clinical manifestations and lead to serious complications. Understanding these manifestations and the appropriate diagnostic studies is essential for effective management and treatment.Thoracic Aortic AneurysmsThoracic aortic aneurysms often remain asymptomatic until they reach a size that impinges on adjacent structures. They typically cause deep, diffuse chest pain that radiates to...
149
01:23Mitral Stenosis II: Clinical features and Diagnostic Tests
154
Mitral stenosis is a heart condition in which the mitral valve, which allows blood to flow from the left atrium to the left ventricle, becomes narrowed or stenotic. This narrowing hinders blood flow and leads to clinical symptoms requiring specific medical evaluations and management strategies. The following overview outlines the clinical symptoms, assessments, diagnostic findings, prevention methods, and treatments for mitral stenosis.Clinical ManifestationsDyspnea (shortness of breath): This...
154