Evidence map›Paper›PMID 42905171›Full record

ReviewDie Ophthalmologie2026

[Bardet-Biedl syndrome-diagnosis, care and treatment approaches].

Laura Kühlewein, Ulrich Kellner, Herbert Jägle, Karsten Hufendiek, Maximilian-Joachim Gerhardt, Anna M Lentzsch, Rupert W Strauss, Vinodh Kakkassery, Susanne Kohl, Metin Cetiner and 1 more

Abstract readEnglish AbstractReview
PubMed Publisher
In one paragraph

Review in Die 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

11 authors.

Laura KühleweinUniversitäts-Augenklinik, Department für Augenheilkunde, Universität Tübingen, Elfriede-Aulhorn-Str. 7, 72076, Tübingen, Deutschland. Laura.Kuehlewein@med.uni-tuebingen.de.ORCID http://orcid.org/0000-0003-1906-8681
Ulrich KellnerMVZ Augenärztliches Diagnostik- und Therapiecentrum Siegburg, Siegburg, Deutschland.
Herbert JägleKlinik für Augenheilkunde, Universitätsklinikum Regensburg, Regensburg, Deutschland.
Karsten HufendiekUniversitätsklinik für Augenheilkunde, Medizinische Hochschule Hannover, Hannover, Deutschland.
Maximilian-Joachim GerhardtAugenklinik der LMU, Klinikum der Universität München, München, Deutschland.
Anna M LentzschZentrum für Augenheilkunde, Uniklinik Köln, Köln, Deutschland.
Rupert W StraussUniversitätsaugenklinik, Medizinische Universität Graz, Graz, Österreich.
Vinodh KakkasseryKlinik für Augenheilkunde, Klinikum Chemnitz, Chemnitz, Deutschland.
Susanne KohlForschungsinstitut für Augenheilkunde, Department für Augenheilkunde, Universität Tübingen, Tübingen, Deutschland.
Metin CetinerKlinik für Kinderheilkunde II, Universitätsklinikum Essen, Essen, Deutschland.
Johannes BirtelKlinik für Augenheilkunde, Universitätsklinikum Hamburg-Eppendorf, Martinistraße 52, 20251, Hamburg, Deutschland. study-enquiry@outlook.com.ORCID http://orcid.org/0000-0001-7699-2112

Funding

Rhythm Pharmaceuticals Not applicable
6 · The paper itself

Abstract

The Bardet-Biedl syndrome (BBS) is a genetically determined multiorgan disorder characterized by congenital postaxial polydactyly, obesity, hyperphagia and retinal dystrophy that develops in childhood. The condition is heterogeneous both in terms of molecular genetics and clinically: it is caused by mutations in at least 26 genes, and the variable extraocular manifestations include developmental delay, diabetes mellitus and fatty liver. The retinal dystrophy is also heterogeneous and presents with a broad phenotypic spectrum. While there is no specific treatment option for the retinal dystrophy, an approved treatment exists for the hyperphagia-related obesity. In addition to primary care, BBS patients should receive interdisciplinary care at specialized centers. Since 2026, patients with BBS1-associated retinal dystrophy are being enrolled in an ocular gene therapy study to evaluate the preliminary safety and tolerability of AXV-101.

Indexed as

GeneticsHyperphagiaInherited retinal degenerationObesityRetinal dystrophy

Identifiers

What OpenQuestion 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 OpenQuestion graph.