Evidence map›Paper›PMID 42039976›Full record

ArticleInternational journal of ophthalmology2026

Identification of novel mutations in the

Julio Cesar Molina Martín, Gerardo P García García, Ezequiel Campos Mollo, María Magdalena García Navarro, Luis Alberto Molina Martín, Carmen Desco Esteban, David P Piñero

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

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0citing papers in PubMed
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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

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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

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5 · Who and what money

Authors and funding

7 authors.

Julio Cesar Molina MartínDepartment of Ophthalmology, University Hospital of San Juan de Alicante, N-332, Sant Joan d'Alacant 03550, Alicante, Spain.
Gerardo P García GarcíaGeneral University Hospital of Alicante, Av. Pintor Baeza, 12, Alicante 03010, Alicante, Spain.
Ezequiel Campos MolloDepartment of Ophthalmology, Virgen de los Lirios Hospital, Polígono de Caramanchel, Alcoi 03804, Alicante, Spain.
María Magdalena García NavarroDepartment of Clinical Neurophysiology, University Hospital of San Juan de Alicante, N-332, Sant Joan d'Alacant 03550, Alicante, Spain.
Luis Alberto Molina MartínDepartment of Neurology, Can Misses Hospital, Carrer de Corona, Eivissa 07800, Balearic Islands, Spain.
Carmen Desco EstebanFundación Oftalmología Médica de la Comunidad Valenciana (FOM), Valencia 46015, Valencia, Spain.
David P PiñeroDepartment of Optics, Pharmacology and Anatomy, University of Alicante, Road of San Vicente del Raspeig, San Vicente del Raspeig 03690, Alicante, Spain.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

aimTo describe novel variants in the G protein-coupled receptor kinase 1 (

methodsFive members of a single family were enrolled, including two confirmed cases of Oguchi disease and three carriers with novel variants in the

resultsThe study found that both cases of Oguchi disease showed positive Mizuo-Nakamura phenomenon, moderate retinal thickening and packing of the three outermost hyper-reflective bands in the parafoveal region. After establishing a clinical diagnosis of Oguchi disease in patients IV-II and IV-III, molecular analysis revealed a similar genotype in the patients, both carrying two heterozygous variants in the

conclusionTwo novel variants in the

Indexed as

GRK1 geneMizuo-Nakamura phenomenonOguchi diseaseoptical coherence tomography

Identifiers

PMID42039976
PMCPMC13103250

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