Evidence map›Paper›PMID 37341837›Full record

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

Multidisciplinary approach to inherited causes of dual sensory impairment.

Borja Arias-Peso, María Luisa Calero-Ramos, Cayetana López-Ladrón García de la Borbolla, Mireia López-Domínguez, María José Morillo-Sánchez, Silvia Méndez-Martínez, Serafin Sánchez-Gómez, Enrique Rodríguez-de-la-Rúa

Abstract readReview
PubMed Publisher
In one paragraph

Review 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 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 42% of its field
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 citations in OpenAlex.

  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

8 authors at 2 institutions in 1 country.

Borja Arias-PesoDepartment of Ophthalmology, Miguel Servet University Hospital, 1-3 Isabel la Católica Street, 50009, Zaragoza, Spain. arias_bor@hotmail.com.ORCID http://orcid.org/0000-0002-5355-4766
María Luisa Calero-RamosDepartment of Otorhinolaryngology, Virgen Macarena University Hospital, Seville, Spain.
Cayetana López-Ladrón García de la BorbollaDepartment of Otorhinolaryngology, Virgen Macarena University Hospital, Seville, Spain.
Mireia López-DomínguezDepartment of Ophthalmology, Virgen Macarena University Hospital, Seville, Spain.
María José Morillo-SánchezDepartment of Ophthalmology, Virgen Macarena University Hospital, Seville, Spain.
Silvia Méndez-MartínezDepartment of Ophthalmology, Miguel Servet University Hospital, 1-3 Isabel la Católica Street, 50009, Zaragoza, Spain.
Serafin Sánchez-GómezDepartment of Otorhinolaryngology, Virgen Macarena University Hospital, Seville, Spain.
Enrique Rodríguez-de-la-RúaDepartment of Ophthalmology, Virgen Macarena University Hospital, Seville, Spain.
Hospital Universitario Virgen Macarena · ESHospital Universitario Miguel Servet · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeThis article presents a review of the main causes of inherited dual sensory impairment (DSI) with an emphasis on the multidisciplinary approach.

methodsA narrative review of English literature published before January 2023 was conducted using PubMed, Medline, and Scopus databases. The different causes of inherited DSI are discussed from a multidisciplinary perspective.

resultsThere are a wide range of dual sensory impairment (DSI), commonly referred to as blindness and deafness. While Usher syndrome is the most frequent genetic cause, other genetic syndromes such as Alport syndrome or Stickler syndrome can also lead to DSI. Various retinal phenotypes, including pigmentary retinopathy as seen in Usher syndrome, vitreoretinopathy as in Stickler syndrome, and macular dystrophy as in Alport syndrome, along with type of hearing loss (sensorineural or conductive) and additional systemic symptoms can aid in diagnostic suspicion. A thorough ophthalmologic and otorhinolaryngologic examination can help guide diagnosis, which can then be confirmed with genetic studies, crucial for determining prognosis. Effective hearing rehabilitation measures, such as hearing implants, and visual rehabilitation measures, such as low vision optical devices, are crucial for maintaining social interaction and proper development in these patients.

conclusionsWhile Usher syndrome is the primary cause of inherited dual sensory impairment (DSI), other genetic syndromes can also lead to this condition. A proper diagnostic approach based on retinal phenotypes and types of hearing loss can aid in ruling out alternative causes. Multidisciplinary approaches can assist in reaching a definitive diagnosis, which has significant prognostic implications.

Indexed as

ArthritisConnective Tissue DiseasesEye Diseases, HereditaryHearing Loss, SensorineuralNephritis, HereditaryRetinal DetachmentUsher SyndromesBlindnessHumansBlindnessDeafnessDual sensory impairmentGeneticsRetina

Identifiers

PMID37341837
OpenAlexW4381469369

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.