Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Late-onset Kjellin syndrome: Diagnosis of SPG11 on fundus examination.

European journal of ophthalmology - 1 Jul 2024

Brock Vincent, Wissocq Anna, Geoffre Nicolas, Marks Caroline, Canel Vincent, Huin Vincent, Smirnov Vasily M

Abstract excerpt

INTRODUCTION: Spastic paraplegia (SPG) is a heterogenous group of neurodegenerative disorders, that may include ocular involvement. Here we report the clinical data of a patient with late-onset Kjellin syndrome, a peculiar form of hereditary SPG with macular dystrophy. MATERIALS AND METHODS: Clinical, functional and multimodal retinal imaging data were collected. Genetic testing was performed by Whole Exome...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Exome Sequencing
Share to Fluorescein Angiography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fundus Oculi

Share to Macular Degeneration

Share to Multimodal Imaging

Share to Spastic Paraplegia, Hereditary

Share to Tomography, Optical Coherence

Share to Visual Acuity

Source

Identifiers

PMID: 38613257
DOI: 10.1177/11206721241247418

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Late-onset Kjellin syndrome: Diagnosis of SPG11 on fundus examination.PMID 38613257Read ↗

Kjellin syndrome: long-term neuro-ophthalmologic follow-up and novel mutations in the SPG11 gene.Semantic proximity Read ↗

Neurophysiological and ophthalmological findings of SPG7-related spastic ataxia: a phenotype study in an Irish cohort.Semantic proximity Read ↗

SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.Semantic proximity Read ↗

Keratoconus in hereditary spastic paraplegia 15 and Kjellin syndrome: a case report.Semantic proximity Read ↗

Kjellin's syndrome: fundus autofluorescence, angiographic, and electrophysiologic findings.Semantic proximity Read ↗

Pathogenic variants and associated phenotypic spectrum of TSPAN12 based on data from a large cohort.Semantic proximity Read ↗

Sorsby fundus dystrophy – A review of pathology and disease mechanismsSemantic proximity Read ↗

Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study.Semantic proximity Read ↗

Concurrent PANK2 and OCA2 variants in a patient with retinal dystrophy, hypopigmented irides and neurodegeneration.Semantic proximity Read ↗

A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8.Semantic proximity Read ↗

BEST1 VARIANT ASSOCIATED WITH AN ATYPICAL MACULAR AND PERIPHERAL RETINAL PHENOTYPE.Semantic proximity Read ↗

Characterizing a Unique Retinal Phenotype in INTS11-Associated Neurodevelopmental Disorder.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.