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: 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.
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Authors | Inger Norlyk Sheyanth, Ihab Bishara Lolas, Henrik Okkels, Ligor Pradeep Kiruparajan, Søren Kromann Abildgaard, Michael Bjørn Petersen |
Journal | Molecular genetics & genomic medicine
(Mol Genet Genomic Med)
Vol. 9
Issue 4
Pg. e1652
(04 2021)
ISSN: 2324-9269 [Electronic] United States |
PMID | 33689237
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | © 2021 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. |
Chemical References |
- EFEMP1 protein, human
- Extracellular Matrix Proteins
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Topics |
- Extracellular Matrix Proteins
(genetics)
- Female
- Humans
- Middle Aged
- Mutation, Missense
- Optic Disk Drusen
(congenital, genetics, pathology)
- Retina
(pathology)
- Scandinavian and Nordic Countries
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