Related Experiment Video
Updated: May 5, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
Macular Dystrophy Associated With Hereditary Spastic Paraplegia Type 11 (Kjellin Syndrome): A Multidisciplinary Case
Martina Grech1, Edith Said2, Rebecca Sammut3
1Ophthalmology, Mater Dei Hospital, Msida, MLT.
Spastic paraplegia type 11 (SPG11) can cause silent eye problems. Early ophthalmologic evaluation is crucial for diagnosing SPG11, even without obvious visual symptoms.
Area of Science:
- Genetics
- Neurology
- Ophthalmology
Background:
- Spastic paraplegia type 11 (SPG11) is a common genetic cause of autosomal recessive hereditary spastic paraplegia.
- SPG11 often presents with corpus callosum thinning and neurological deficits, but ocular involvement, like Kjellin syndrome, is increasingly recognized.
- Ocular manifestations in SPG11 can be subtle or clinically silent, potentially delaying diagnosis.
More Related Videos
07:32Analyzing Mitochondrial Transport and Morphology in Human Induced Pluripotent Stem Cell-Derived Neurons in Hereditary Spastic Paraplegia
Published on: February 9, 2020
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017