First reported case of Doyne honeycomb retinal dystrophy (Malattia Leventinese/autosomal dominant drusen) in Scandinavia
Abstract Background Doyne honeycomb retinal dystrophy (DHRD)/malattia leventinese (ML) is an autosomal dominant, progressive retinal disorder characterized by massive central retinal drusen often partly coalescent forming a characteristic honeycomb‐like pattern. Debut of vision loss often occurs in...
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| Format: | Article |
| Language: | English |
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Wiley
2021-04-01
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| Series: | Molecular Genetics & Genomic Medicine |
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| Online Access: | https://doi.org/10.1002/mgg3.1652 |
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| author | Inger Norlyk Sheyanth Ihab Bishara Lolas Henrik Okkels Ligor Pradeep Kiruparajan Søren Kromann Abildgaard Michael Bjørn Petersen |
| author_facet | Inger Norlyk Sheyanth Ihab Bishara Lolas Henrik Okkels Ligor Pradeep Kiruparajan Søren Kromann Abildgaard Michael Bjørn Petersen |
| author_sort | Inger Norlyk Sheyanth |
| collection | DOAJ |
| description | Abstract Background Doyne honeycomb retinal dystrophy (DHRD)/malattia leventinese (ML) is an autosomal dominant, progressive retinal disorder characterized by massive central retinal drusen often partly coalescent forming a characteristic honeycomb‐like pattern. Debut of vision loss often occurs in early to mid‐adulthood, and the degree varies. A single variant in EFEMP1: c.1033C>T (R345W) has been identified as the cause in all cases. Methods Following DNA isolation, exome sequencing was performed in seven genes associated with flecked retina. Direct sequencing was used for variant verification. Results We report the first Scandinavian case of molecular genetically verified DHRD/ML: a 57‐year‐old woman debuting with vision loss and metamorphopsia. On both eyes, ophthalmological findings included massive hard drusen in the macular region and nasal to the optic disc as well as macular hyperpigmentation. Secondary choroidal neovascularizations were identified on both eyes, and anti‐vascular endothelial growth factor was administered, without effect. Conclusion Molecular genetic investigation revealed heterozygosity for the known pathogenic missense variant in EFEMP1: c.1033C>T (R345W) previously reported in relation to DHRD/ML. Family history revealed no other cases of similar visual impairment suggesting a de novo mutation. Furthermore, there was no correlation between the unique DHRD/ML haplotypes reported in the literature and our patient. |
| first_indexed | 2024-03-07T23:33:29Z |
| format | Article |
| id | doaj.art-68b5106fdd6949f3bed154732400b298 |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-03-07T23:33:29Z |
| publishDate | 2021-04-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-68b5106fdd6949f3bed154732400b2982024-02-20T10:41:15ZengWileyMolecular Genetics & Genomic Medicine2324-92692021-04-0194n/an/a10.1002/mgg3.1652First reported case of Doyne honeycomb retinal dystrophy (Malattia Leventinese/autosomal dominant drusen) in ScandinaviaInger Norlyk Sheyanth0Ihab Bishara Lolas1Henrik Okkels2Ligor Pradeep Kiruparajan3Søren Kromann Abildgaard4Michael Bjørn Petersen5Research and Knowledge Center in Sensory Genetics Aalborg University Hospital Aalborg DenmarkResearch and Knowledge Center in Sensory Genetics Aalborg University Hospital Aalborg DenmarkResearch and Knowledge Center in Sensory Genetics Aalborg University Hospital Aalborg DenmarkResearch and Knowledge Center in Sensory Genetics Aalborg University Hospital Aalborg DenmarkResearch and Knowledge Center in Sensory Genetics Aalborg University Hospital Aalborg DenmarkResearch and Knowledge Center in Sensory Genetics Aalborg University Hospital Aalborg DenmarkAbstract Background Doyne honeycomb retinal dystrophy (DHRD)/malattia leventinese (ML) is an autosomal dominant, progressive retinal disorder characterized by massive central retinal drusen often partly coalescent forming a characteristic honeycomb‐like pattern. Debut of vision loss often occurs in early to mid‐adulthood, and the degree varies. A single variant in EFEMP1: c.1033C>T (R345W) has been identified as the cause in all cases. Methods Following DNA isolation, exome sequencing was performed in seven genes associated with flecked retina. Direct sequencing was used for variant verification. Results We report the first Scandinavian case of molecular genetically verified DHRD/ML: a 57‐year‐old woman debuting with vision loss and metamorphopsia. On both eyes, ophthalmological findings included massive hard drusen in the macular region and nasal to the optic disc as well as macular hyperpigmentation. Secondary choroidal neovascularizations were identified on both eyes, and anti‐vascular endothelial growth factor was administered, without effect. Conclusion Molecular genetic investigation revealed heterozygosity for the known pathogenic missense variant in EFEMP1: c.1033C>T (R345W) previously reported in relation to DHRD/ML. Family history revealed no other cases of similar visual impairment suggesting a de novo mutation. Furthermore, there was no correlation between the unique DHRD/ML haplotypes reported in the literature and our patient.https://doi.org/10.1002/mgg3.1652Doyne honeycomb retinal dystrophyEFEMP1Malattia leventinese |
| spellingShingle | Inger Norlyk Sheyanth Ihab Bishara Lolas Henrik Okkels Ligor Pradeep Kiruparajan Søren Kromann Abildgaard Michael Bjørn Petersen First reported case of Doyne honeycomb retinal dystrophy (Malattia Leventinese/autosomal dominant drusen) in Scandinavia Molecular Genetics & Genomic Medicine Doyne honeycomb retinal dystrophy EFEMP1 Malattia leventinese |
| title | First reported case of Doyne honeycomb retinal dystrophy (Malattia Leventinese/autosomal dominant drusen) in Scandinavia |
| title_full | First reported case of Doyne honeycomb retinal dystrophy (Malattia Leventinese/autosomal dominant drusen) in Scandinavia |
| title_fullStr | First reported case of Doyne honeycomb retinal dystrophy (Malattia Leventinese/autosomal dominant drusen) in Scandinavia |
| title_full_unstemmed | First reported case of Doyne honeycomb retinal dystrophy (Malattia Leventinese/autosomal dominant drusen) in Scandinavia |
| title_short | First reported case of Doyne honeycomb retinal dystrophy (Malattia Leventinese/autosomal dominant drusen) in Scandinavia |
| title_sort | first reported case of doyne honeycomb retinal dystrophy malattia leventinese autosomal dominant drusen in scandinavia |
| topic | Doyne honeycomb retinal dystrophy EFEMP1 Malattia leventinese |
| url | https://doi.org/10.1002/mgg3.1652 |
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