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Clinical Ophthalmology Volume 16, 2022 - Issue
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Research Letter

Analysis of Molecular Genetic Testing Referrals for Inherited Retinal Dystrophies in a Quebec Tertiary Care Center Over a Decade

Alexandre Lachance1 Faculté de médecine, Université Laval, Québec, QC, Canada;2 Département d’ophtalmologie et d’oto-rhino-laryngologie – chirurgie cervico-faciale, Centre Universitaire d’Ophtalmologie, Hôpital du Saint-Sacrement, CHU de Québec - Université Laval, Québec, QC, CanadaORCID Iconhttps://orcid.org/0000-0002-9484-0945View further author information
ORCID Icon,
Mélanie Hébert1 Faculté de médecine, Université Laval, Québec, QC, Canada;2 Département d’ophtalmologie et d’oto-rhino-laryngologie – chirurgie cervico-faciale, Centre Universitaire d’Ophtalmologie, Hôpital du Saint-Sacrement, CHU de Québec - Université Laval, Québec, QC, CanadaORCID Iconhttps://orcid.org/0000-0002-5738-4362View further author information
ORCID Icon,
Marc Hébert1 Faculté de médecine, Université Laval, Québec, QC, Canada;2 Département d’ophtalmologie et d’oto-rhino-laryngologie – chirurgie cervico-faciale, Centre Universitaire d’Ophtalmologie, Hôpital du Saint-Sacrement, CHU de Québec - Université Laval, Québec, QC, Canada;3 CERVO Brain Research Centre, Quebec, QC, CanadaView further author information
,
Christian Salesse1 Faculté de médecine, Université Laval, Québec, QC, Canada;2 Département d’ophtalmologie et d’oto-rhino-laryngologie – chirurgie cervico-faciale, Centre Universitaire d’Ophtalmologie, Hôpital du Saint-Sacrement, CHU de Québec - Université Laval, Québec, QC, CanadaView further author information
,
Serge Bourgault1 Faculté de médecine, Université Laval, Québec, QC, Canada;2 Département d’ophtalmologie et d’oto-rhino-laryngologie – chirurgie cervico-faciale, Centre Universitaire d’Ophtalmologie, Hôpital du Saint-Sacrement, CHU de Québec - Université Laval, Québec, QC, CanadaView further author information
&
Ali Dirani1 Faculté de médecine, Université Laval, Québec, QC, Canada;2 Département d’ophtalmologie et d’oto-rhino-laryngologie – chirurgie cervico-faciale, Centre Universitaire d’Ophtalmologie, Hôpital du Saint-Sacrement, CHU de Québec - Université Laval, Québec, QC, CanadaCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0003-2013-5538View further author information
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Pages 239-244 | Published online: 02 Feb 2022

Figures & data

Figure 1 (A) Types of suspected IRD diagnoses by clinical presentation and ERG results; (B) number of MGT referrals to genetics and number of patients seen by genetics with or without MGT performed per year.

Abbreviations: IRD, inherited retinal dystrophy; MGT, molecular genetic testing.
Figure 1 (A) Types of suspected IRD diagnoses by clinical presentation and ERG results; (B) number of MGT referrals to genetics and number of patients seen by genetics with or without MGT performed per year.

Figure 2 Flowchart representing the process and number of patients undergoing genetic referrals for suspicion of IRD.

Abbreviations: IRD, inherited retinal dystrophy; ERG, electroretinogram; MGT, molecular genetic testing.
Figure 2 Flowchart representing the process and number of patients undergoing genetic referrals for suspicion of IRD.

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