Retinal nerve fibre layer thinning and corneal nerve loss in patients with Bardet-Biedl syndrome
Abstract Background Bardet-Biedl syndrome (BBS) is an autosomal recessive, genetically heterogeneous, pleiotropic disorder caused by variants in genes involved in the function of the primary cilium. We have harnessed genomics to identify BBS and ophthalmic technologies to describe novel features of...
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| Format: | Article |
| Language: | English |
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BMC
2023-11-01
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| Series: | BMC Medical Genomics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12920-023-01739-w |
| _version_ | 1797451124783972352 |
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| author | Aziz Belkadi Gaurav Thareja Adnan Khan Nisha Stephan Shaza Zaghlool Anna Halama Ayeda Abdulsalam Ahmed Yasmin A. Mohamoud Joel Malek Karsten Suhre Rayaz A. Malik |
| author_facet | Aziz Belkadi Gaurav Thareja Adnan Khan Nisha Stephan Shaza Zaghlool Anna Halama Ayeda Abdulsalam Ahmed Yasmin A. Mohamoud Joel Malek Karsten Suhre Rayaz A. Malik |
| author_sort | Aziz Belkadi |
| collection | DOAJ |
| description | Abstract Background Bardet-Biedl syndrome (BBS) is an autosomal recessive, genetically heterogeneous, pleiotropic disorder caused by variants in genes involved in the function of the primary cilium. We have harnessed genomics to identify BBS and ophthalmic technologies to describe novel features of BBS. Case presentation A patient with an unclear diagnosis of syndromic type 2 diabetes mellitus, another affected sibling and unaffected siblings and parents were sequenced using DNA extracted from saliva samples. Corneal confocal microscopy (CCM) and retinal spectral domain optical coherence tomography (SD-OCT) were used to identify novel ophthalmic features in these patients. The two affected individuals had a homozygous variant in C8orf37 (p.Trp185*). SD-OCT and CCM demonstrated a marked and patchy reduction in the retinal nerve fiber layer thickness and loss of corneal nerve fibers, respectively. Conclusion This report highlights the use of ophthalmic imaging to identify novel retinal and corneal abnormalities that extend the phenotype of BBS in a patient with syndromic type 2 diabetes. |
| first_indexed | 2024-03-09T14:50:24Z |
| format | Article |
| id | doaj.art-6f6157566d8843c9802dc1f1ddc22fa3 |
| institution | Directory Open Access Journal |
| issn | 1755-8794 |
| language | English |
| last_indexed | 2024-03-09T14:50:24Z |
| publishDate | 2023-11-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genomics |
| spelling | doaj.art-6f6157566d8843c9802dc1f1ddc22fa32023-11-26T14:30:25ZengBMCBMC Medical Genomics1755-87942023-11-011611710.1186/s12920-023-01739-wRetinal nerve fibre layer thinning and corneal nerve loss in patients with Bardet-Biedl syndromeAziz Belkadi0Gaurav Thareja1Adnan Khan2Nisha Stephan3Shaza Zaghlool4Anna Halama5Ayeda Abdulsalam Ahmed6Yasmin A. Mohamoud7Joel Malek8Karsten Suhre9Rayaz A. Malik10Weill Cornell Medicine-Qatar, Qatar Foundation, Education CityWeill Cornell Medicine-Qatar, Qatar Foundation, Education CityFaculty of Health Sciences, Khyber Medical UniversityWeill Cornell Medicine-Qatar, Qatar Foundation, Education CityWeill Cornell Medicine-Qatar, Qatar Foundation, Education CityWeill Cornell Medicine-Qatar, Qatar Foundation, Education CityWeill Cornell Medicine-Qatar, Qatar Foundation, Education CityWeill Cornell Medicine-Qatar, Qatar Foundation, Education CityWeill Cornell Medicine-Qatar, Qatar Foundation, Education CityWeill Cornell Medicine-Qatar, Qatar Foundation, Education CityWeill Cornell Medicine-Qatar, Qatar Foundation, Education CityAbstract Background Bardet-Biedl syndrome (BBS) is an autosomal recessive, genetically heterogeneous, pleiotropic disorder caused by variants in genes involved in the function of the primary cilium. We have harnessed genomics to identify BBS and ophthalmic technologies to describe novel features of BBS. Case presentation A patient with an unclear diagnosis of syndromic type 2 diabetes mellitus, another affected sibling and unaffected siblings and parents were sequenced using DNA extracted from saliva samples. Corneal confocal microscopy (CCM) and retinal spectral domain optical coherence tomography (SD-OCT) were used to identify novel ophthalmic features in these patients. The two affected individuals had a homozygous variant in C8orf37 (p.Trp185*). SD-OCT and CCM demonstrated a marked and patchy reduction in the retinal nerve fiber layer thickness and loss of corneal nerve fibers, respectively. Conclusion This report highlights the use of ophthalmic imaging to identify novel retinal and corneal abnormalities that extend the phenotype of BBS in a patient with syndromic type 2 diabetes.https://doi.org/10.1186/s12920-023-01739-wBardet-Biedl SyndromeCorneal confocal MicroscopyNervesOptical coherence tomographyRetina |
| spellingShingle | Aziz Belkadi Gaurav Thareja Adnan Khan Nisha Stephan Shaza Zaghlool Anna Halama Ayeda Abdulsalam Ahmed Yasmin A. Mohamoud Joel Malek Karsten Suhre Rayaz A. Malik Retinal nerve fibre layer thinning and corneal nerve loss in patients with Bardet-Biedl syndrome BMC Medical Genomics Bardet-Biedl Syndrome Corneal confocal Microscopy Nerves Optical coherence tomography Retina |
| title | Retinal nerve fibre layer thinning and corneal nerve loss in patients with Bardet-Biedl syndrome |
| title_full | Retinal nerve fibre layer thinning and corneal nerve loss in patients with Bardet-Biedl syndrome |
| title_fullStr | Retinal nerve fibre layer thinning and corneal nerve loss in patients with Bardet-Biedl syndrome |
| title_full_unstemmed | Retinal nerve fibre layer thinning and corneal nerve loss in patients with Bardet-Biedl syndrome |
| title_short | Retinal nerve fibre layer thinning and corneal nerve loss in patients with Bardet-Biedl syndrome |
| title_sort | retinal nerve fibre layer thinning and corneal nerve loss in patients with bardet biedl syndrome |
| topic | Bardet-Biedl Syndrome Corneal confocal Microscopy Nerves Optical coherence tomography Retina |
| url | https://doi.org/10.1186/s12920-023-01739-w |
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