Evidence map›Paper›PMID 41543775›Full record

ArticleGraefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie2026

Autosomal dominant pigmented paravenous retinochoroidal atrophy associated with pathogenic variant in HK1 gene.

Kazuma Oku, Kei Mizobuchi, Kiyofumi Mochizuki, Kazushige Tsunoda, Itsuka Matsushita, Tatsuo Nagata, Kaoru Fujinami, Akiko Suga, Kazutoshi Yoshitake, Hirokazu Sakaguchi and 3 more

Abstract read
PubMed Publisher
In one paragraph

Article in Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, 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

13 authors.

Kazuma OkuDepartment of Ophthalmology, University of Occupational and Environmental Health, 1-1, Iseigaoka, Yahatanishiku, Kitakyushu, 807-8555, Japan.
Kei MizobuchiDepartment of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
Kiyofumi MochizukiDepartment of Ophthalmology, Gifu University Graduate School of Medicine, Gifu, Japan.
Kazushige TsunodaDivision of Vision Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.
Itsuka MatsushitaDepartment of Ophthalmology, University of Occupational and Environmental Health, 1-1, Iseigaoka, Yahatanishiku, Kitakyushu, 807-8555, Japan.
Tatsuo NagataDepartment of Ophthalmology, University of Occupational and Environmental Health, 1-1, Iseigaoka, Yahatanishiku, Kitakyushu, 807-8555, Japan.
Kaoru FujinamiDivision of Vision Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.
Akiko SugaDivision of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.
Kazutoshi YoshitakeDivision of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.
Hirokazu SakaguchiDepartment of Ophthalmology, Gifu University Graduate School of Medicine, Gifu, Japan.
Takaaki HayashiDepartment of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
Takeshi IwataDivision of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.
Hiroyuki KondoDepartment of Ophthalmology, University of Occupational and Environmental Health, 1-1, Iseigaoka, Yahatanishiku, Kitakyushu, 807-8555, Japan. kondohi@med.uoeh-u.ac.jp.ORCID 0000-0002-3194-152X

Funding

Japan Society for the Promotion of Science 23K09053
6 · The paper itself

Abstract

purposeTo determine the clinical characteristics and the causative genetic variant of a familial case of pigmented paravenous retinochoroidal atrophy (PPRCA).

methodsWhole exome sequencing (WES) was performed on ten individuals from four families. Their clinical characteristics were determined and compared to other patients with other inherited retinal dystrophies (IRDs) who had HK1 gene variants.

resultsA known heterozygous pathogenic variant in the hexokinase 1 (HK1) gene, c.2539G > A; p.Glu847Lys, segregated with the six family members. Four affected family members had signs of PPRCA associated with mild macular degeneration detected by fundus autofluorescence and optical coherence tomography. In addition, four patients from three families with the same variant were diagnosed with cone-rod dystrophy, retinitis pigmentosa, and enhanced S-cone syndrome. They had different degrees of macular and mid-peripheral degeneration but lacked the pathogenic features of PPRCA.

conclusionThis is the first study of familial PPRCA associated with the pathogenic HK1 variant. Patients with the HK1 variant had different clinical diagnoses based on the variations in the phenotypic severities. Their visual acuity and electroretinograms were less severely altered than expected given the structural abnormalities observed around the macula in imaging analyses.

Indexed as

ChoroidDNAEye Diseases, HereditaryHexokinaseMutationRetinal DegenerationAdultDNA Mutational AnalysisElectroretinographyExome SequencingFemaleFluorescein AngiographyFundus OculiHumansMaleMiddle AgedDNAHexokinaseHK1 protein, humanFundus autofluorescenceHexokinase 1HK1Pigmented paravenous retinochoroidal atrophyPPRCA

Identifiers

PMID41543775

What Socratic holds

Textmetadata
Read underepoch 390

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 Socratic graph.