AI Article Synopsis
- Leber's congenital amaurosis (LCA) is a hereditary retinal disease that leads to significant vision impairment and is characterized by specific symptoms like nystagmus and reduced electroretinograms.
- A rare case was presented involving two siblings diagnosed with LCA who also developed retinal astrocytic hamartomas (RAH), despite no known links between these conditions.
- Advanced retinal imaging techniques, such as Infrared imaging (IRI) and Optical coherence tomography (OCT), have improved the detection of subtle RAH cases.
Article Abstract
Background: Leber's congenital amaurosis (LCA) is a known inherited retinal disease (IRD) associated with severe visual loss, nystagmus, amaurotic pupils, oculo-digital sign and markedly reduced or absent electroretinograms (ERG). Retinal astrocytic hamartomas (RAH) is a benign vascularized glial tumor of the retina. There is no known association of these two entities, more so in siblings.
Case Presentation: A pair of siblings diagnosed as LCA who presented with RAH with no extraocular symptoms or signs of phakomatosis were imaged. Multimodal imaging was performed and are elaborately described in this article.
Conclusion: LCA in siblings with multiple RAHs is an extremely rare association. Recent advances in retinal imaging tools have aided in diagnosing even subtle and early RAH with high sensitivity using Infrared imaging (IRI) and Optical coherence tomography (OCT).
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7510068 | PMC |
| http://dx.doi.org/10.1186/s12886-020-01646-z | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!