Evidence map›Paper›PMID 38206414›Full record

ArticleGraefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie2024

Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology.

Veronika Vaclavik, Aurelie Navarro, Alain Jacot-Guillarmod, Armand Bottani, Young Joo Sun, Joel A Franco, Vinit B Mahajan, Vasily Smirnov, Isabelle Bouvet-Drumare

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PubMed Full text at PMC Publisher
In one paragraph

Article in Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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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

2 citing papers in PubMed.

  1. Visual function and autism spectrum disorder.Journal of neural transmission (Vienna, Austria : 1996) · 2026
    Review
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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

9 authors.

Veronika VaclavikJules-Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland. veronika.vaclavik@fa2.ch.ORCID http://orcid.org/0000-0001-5050-5558
Aurelie NavarroJules-Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland.
Alain Jacot-GuillarmodJules-Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland.
Armand BottaniService of Genetic Medicine, Geneva University Hospitals, Geneva, Switzerland.
Young Joo SunMolecular Surgery Laboratory, Byers Eye Institute, Stanford University, Palo Alto, CA, USA.
Joel A FrancoMolecular Surgery Laboratory, Byers Eye Institute, Stanford University, Palo Alto, CA, USA.
Vinit B MahajanMolecular Surgery Laboratory, Byers Eye Institute, Stanford University, Palo Alto, CA, USA.
Vasily SmirnovExploration de la Vision et Neuro-Ophtalmologie, CHU de Lille, Lilles, 59000, France.
Isabelle Bouvet-DrumareExploration de la Vision et Neuro-Ophtalmologie, CHU de Lille, Lilles, 59000, France.

Funding

Stanford Vision Research CoreP30EY026877 · NEI · STANFORD UNIVERSITY · PI Jeffrey L Goldberg · 2017 to 2026
$8.0M
NEI NIH HHS P30 EY026877
6 · The paper itself

Abstract

backgroundKabuki Syndrome is a rare and genetically heterogenous condition with both ophthalmic and systemic complications and typical facial features. We detail the macular phenotype in two unrelated patients with Kabuki syndrome due to de novo nonsense variants in KMT2D, one novel. A follow-up of 10 years is reported. Pathogenicity of both de novo nonsense variants is analyzed.

methodsFour eyes of two young patients were studied by full clinical examination, kinetic perimetry, short wavelength autofluorescence, full field (ff) ERGs, and spectral-domain optical coherence tomography (SD-OCT). One patient had adaptive optic (AO) imaging. Whole exome sequencing was performed in both patients.

resultsBoth patients had de novo nonsense variants in KMTD2. One patient had c.14843C>G; p. (Ser4948ter) novel variant and the second c.11119C>T; p. (Arg3707ter). Both had a stable Snellen visual acuity of 0.2-0.3. The retinal multimodal imaging demonstrated abnormalities at the fovea in both eyes: hyperreflectivity to blue light and a well-delimited gap-disruption of ellipsoid and interdigitation layer on OCT. The dark area on AO imaging is presumed to be absent for, or with structural change to photoreceptors. The ff ERGs and kinetic visual fields were normal. The foveal findings remained stable over several years.

conclusionKabuki syndrome-related maculopathy is a distinct loss of photoreceptors at the fovea as shown by multimodal imaging including, for the first time, AO imaging. This report adds to the literature of only one case with maculopathy with two additional macular dystrophies in patients with Kabuki syndrome. Although underestimated, these cases further raise awareness of the potential impact of retinal manifestations of Kabuki syndrome not only among ophthalmologists but also other healthcare professionals involved in the care of patients with this multisystem disorder.

Indexed as

Abnormalities, MultipleElectroretinographyFaceFluorescein AngiographyHematologic DiseasesMultimodal ImagingNeoplasm ProteinsPhenotypeTomography, Optical CoherenceVestibular DiseasesVisual AcuityAdolescentAdultDNADNA-Binding ProteinsDNA Mutational AnalysisDNADNA-Binding ProteinsKMT2D protein, humanNeoplasm ProteinsAdaptive opticsAutofluorescence imagingDystrophyKabuki syndromeKMTD2 geneMaculaMultimodal imagingRetinal imaging

Identifiers

PMID38206414
PMCPMC11105987

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Registered trials

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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.