Evidence map›Paper›PMID 42078221›Full record

ArticleCureus2026

Macular Dystrophy Associated With Hereditary Spastic Paraplegia Type 11 (Kjellin Syndrome): A Multidisciplinary Case Report.

Martina Grech, Edith Said, Rebecca Sammut, Russel Tilney, James Vassallo

Abstract readCase Reports
In one paragraph

Article in Cureus, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Martina GrechOphthalmology, Mater Dei Hospital, Msida, MLT.
Edith SaidGenetics, Mater Dei Hospital, Msida, MLT.
Rebecca SammutNeuroscience, Mater Dei Hospital, Msida, MLT.
Russel TilneyNeuroscience, Mater Dei Hospital, Msida, MLT.
James VassalloOphthalmology, Mater Dei Hospital, Msida, MLT.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Spastic paraplegia type 11 (SPG11) is a common cause of autosomal recessive hereditary spastic paraplegia. It is frequently characterized by thinning of the corpus callosum and other neurological and extra-neurological features. Ocular involvement, including macular dystrophy, termed Kjellin syndrome, is increasingly recognized but may be clinically silent. We report a case of a 47-year-old man with an eight-year history of progressive gait disturbance and spastic paraparesis who was found to carry a likely pathogenic homozygous missense variant in the

Indexed as

hereditary spastic paraplegiakjellin syndromemacular dystrophyspastic paraplegia type 11spg11

Identifiers

PMID42078221
PMCPMC13135448

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.