Cone dystrophy associated with autoimmune polyglandular syndrome type 1
Abstract To report the association of autoimmune polyglandular syndrome type 1 (APS1) with cone dystrophy in a large Saudi family. This is a Retrospective chart review and prospective genetic testing and ophthalmic examination of a large multiplex consanguineous family. Genetic testing was performed...
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| Format: | Article |
| Language: | English |
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Nature Portfolio
2023-07-01
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| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-023-38419-9 |
| _version_ | 1797778905949536256 |
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| author | Abdulrahman Badawi Moustafa Magliyah Omar Alabbasi Lama AlAbdi Fowzan S. Alkuraya Patrik Schatz Hani Basher ALBalawi Marco Mura |
| author_facet | Abdulrahman Badawi Moustafa Magliyah Omar Alabbasi Lama AlAbdi Fowzan S. Alkuraya Patrik Schatz Hani Basher ALBalawi Marco Mura |
| author_sort | Abdulrahman Badawi |
| collection | DOAJ |
| description | Abstract To report the association of autoimmune polyglandular syndrome type 1 (APS1) with cone dystrophy in a large Saudi family. This is a Retrospective chart review and prospective genetic testing and ophthalmic examination of a large multiplex consanguineous family. Genetic testing was performed on 14 family members, seven of whom had detailed ophthalmic examinations. Medical history, ocular history and evaluation, visual field testing, full-field electroretinogram (ERG), and Whole Exome Sequencing (WES) results were analyzed. Three family members were homozygous for c.205_208dupCAGG;p.(Asp70Alafs*148) in AIRE and homozygous for c.481-1G>A in PDE6C. One additional family member was homozygous for only the AIRE variant and another additional family member was homozygous for only the PDE6C variant. All patients with homozygosity for the PDE6C variant had cone dystrophy, and all patients with homozygosity for the AIRE variant had APS1. In addition, two of the family members who were homozygous for the PDE6C and AIRE variants had reduced rod function on ERG. We report the co-inheritance for APS1 and PDE6C-related cone dystrophy, an unusual example of two seemingly independent recessive conditions coinciding within a family. Dual molecular diagnosis must be taken into account by ophthalmologists facing unusual constellations of findings, especially in consanguineous families. |
| first_indexed | 2024-03-12T23:24:16Z |
| format | Article |
| id | doaj.art-69903557f2c04e21b2b9213dcdbac799 |
| institution | Directory Open Access Journal |
| issn | 2045-2322 |
| language | English |
| last_indexed | 2024-03-12T23:24:16Z |
| publishDate | 2023-07-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Scientific Reports |
| spelling | doaj.art-69903557f2c04e21b2b9213dcdbac7992023-07-16T11:14:55ZengNature PortfolioScientific Reports2045-23222023-07-011311810.1038/s41598-023-38419-9Cone dystrophy associated with autoimmune polyglandular syndrome type 1Abdulrahman Badawi0Moustafa Magliyah1Omar Alabbasi2Lama AlAbdi3Fowzan S. Alkuraya4Patrik Schatz5Hani Basher ALBalawi6Marco Mura7Vitreoretinal Division, King Khaled Eye Specialist HospitalVitreoretinal Division, King Khaled Eye Specialist HospitalOphthalmology Department, Almadinah Almonawwarah HospitalDepartment of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research CenterDepartment of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research CenterVitreoretinal Division, King Khaled Eye Specialist HospitalOphthalmology Division, Department of Surgery, Faculty of Medicine, University of TabukVitreoretinal Division, King Khaled Eye Specialist HospitalAbstract To report the association of autoimmune polyglandular syndrome type 1 (APS1) with cone dystrophy in a large Saudi family. This is a Retrospective chart review and prospective genetic testing and ophthalmic examination of a large multiplex consanguineous family. Genetic testing was performed on 14 family members, seven of whom had detailed ophthalmic examinations. Medical history, ocular history and evaluation, visual field testing, full-field electroretinogram (ERG), and Whole Exome Sequencing (WES) results were analyzed. Three family members were homozygous for c.205_208dupCAGG;p.(Asp70Alafs*148) in AIRE and homozygous for c.481-1G>A in PDE6C. One additional family member was homozygous for only the AIRE variant and another additional family member was homozygous for only the PDE6C variant. All patients with homozygosity for the PDE6C variant had cone dystrophy, and all patients with homozygosity for the AIRE variant had APS1. In addition, two of the family members who were homozygous for the PDE6C and AIRE variants had reduced rod function on ERG. We report the co-inheritance for APS1 and PDE6C-related cone dystrophy, an unusual example of two seemingly independent recessive conditions coinciding within a family. Dual molecular diagnosis must be taken into account by ophthalmologists facing unusual constellations of findings, especially in consanguineous families.https://doi.org/10.1038/s41598-023-38419-9 |
| spellingShingle | Abdulrahman Badawi Moustafa Magliyah Omar Alabbasi Lama AlAbdi Fowzan S. Alkuraya Patrik Schatz Hani Basher ALBalawi Marco Mura Cone dystrophy associated with autoimmune polyglandular syndrome type 1 Scientific Reports |
| title | Cone dystrophy associated with autoimmune polyglandular syndrome type 1 |
| title_full | Cone dystrophy associated with autoimmune polyglandular syndrome type 1 |
| title_fullStr | Cone dystrophy associated with autoimmune polyglandular syndrome type 1 |
| title_full_unstemmed | Cone dystrophy associated with autoimmune polyglandular syndrome type 1 |
| title_short | Cone dystrophy associated with autoimmune polyglandular syndrome type 1 |
| title_sort | cone dystrophy associated with autoimmune polyglandular syndrome type 1 |
| url | https://doi.org/10.1038/s41598-023-38419-9 |
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