Evidence map›Paper›PMID 38467926›Full record

ArticlePediatric nephrology (Berlin, Germany)2024

Renal coloboma syndrome/dominant optic atrophy with severe retinal atrophy and de novo digenic mutations in PAX2 and OPA1.

Wataru Shimabukuro, Yasutsugu Chinen, Naoya Imanaga, Kumiko Yanagi, Tadashi Kaname, Koichi Nakanishi

Abstract readCase Reports
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In one paragraph

Article in Pediatric nephrology (Berlin, Germany), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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

6 authors.

Wataru ShimabukuroDepartment of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nishihara-Cho, Nakagami-Gun, Okinawa, 903-0215, Japan.
Yasutsugu ChinenDepartment of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nishihara-Cho, Nakagami-Gun, Okinawa, 903-0215, Japan.
Naoya ImanagaDepartment of Ophthalmology, Graduate School of Medicine, University of the Ryukyus, Nishihara, Okinawa, Japan.
Kumiko YanagiDepartment of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.
Tadashi KanameDepartment of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.
Koichi NakanishiDepartment of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nishihara-Cho, Nakagami-Gun, Okinawa, 903-0215, Japan. knakanis@med.u-ryukyu.ac.jp.ORCID 0000-0001-8681-9129

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Renal coloboma syndrome (RCS) and dominant optic atrophy are mainly caused by heterozygous mutations in PAX2 and OPA1, respectively. We describe a patient with digenic mutations in PAX2 and OPA1. A female infant was born without perinatal abnormalities. Magnetic resonance imaging at 4 months of age showed bilateral microphthalmia and optic nerve hypoplasia. Appropriate body size was present at 2 years of age, and mental development was favorable. Color fundus photography revealed severe retinal atrophy in both eyes. Electroretinography showed slight responses in the right eye, but no responses in the left eye, suggesting a high risk of blindness. Urinalysis results were normal, creatinine-based estimated glomerular filtration rate was 63.5 mL/min/1.73 m

Indexed as

ColobomaGTP PhosphohydrolasesPAX2 Transcription FactorVesico-Ureteral RefluxChild, PreschoolExome SequencingFemaleFrameshift MutationHumansInfantMutationOptic Atrophy, Autosomal DominantRenal InsufficiencyUrogenital AbnormalitiesGTP PhosphohydrolasesOPA1 protein, humanPAX2 protein, humanPAX2 Transcription FactorDominant optic atrophyOPA1PAX2Renal coloboma syndromeWhole exome sequencing

Identifiers

PMID38467926

What OpenQuestion holds

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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 OpenQuestion graph.