Abstract
In these conditions, drusen are present in childhood, but patients are asymptomatic, with good vision, until their 40s or 50s. Drusen are seen at the macula, around the edge of the optic nerve and/or nasal to the disc, in a radiating pattern (in particular, temporal to macula, as in Figs. 18.1, 18.2, 18.3, 18.4 and 18.5). The periphery is usually spared. Drusen increase in size and number with age. Peripapillary drusen are a characteristic finding. Visual loss later in life is due to pigment hyperplasia, geographic atrophy, and choroidal neovascular membrane (Figs. 18.6 and 18.7). Variability in the clinical picture is common within families.
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General Features
In these conditions, drusen are present in childhood, but patients are asymptomatic, with good vision, until their 40s or 50s. Drusen are seen at the macula, around the edge of the optic nerve and/or nasal to the disc, in a radiating pattern (in particular, temporal to macula, as in Figs. 18.1, 18.2, 18.3, 18.4 and 18.5). The periphery is usually spared. Drusen increase in size and number with age. Peripapillary drusen are a characteristic finding. Visual loss later in life is due to pigment hyperplasia, geographic atrophy, and choroidal neovascular membrane (Figs. 18.6 and 18.7). Variability in the clinical picture is common within families.
Associated findings include hypertrophy of the retinal pigment epithelium (RPE) and irregular subretinal fibrosis. Drusen show areas of increased hyperautofluorescence, but reduced signal may be seen in areas of RPE atrophy. Optical coherence tomography (OCT) may show accumulation of the drusen material at the level of the RPE/choriocapillaris (CC) complex, under the RPE.
Molecular Genetics
EFEMP1 Gene (DHRD or DRAD or FBLN3 or FIBL-3)
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This gene is a member of the fibulin family of extracellular matrix glycoprotein.
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A single heterozygous missense mutation (p.Arg345Trp) in the EFEMP1 (epidermal growth factor [EGF]–containing fibulin-like extracellular matrix protein 1) gene is responsible for this condition.
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Cytogenetic location: 2p16.1
Suggested Reading
Stone EM, Lotery AJ, Munier FL, Héon E, Piguet B, Guymer RH, et al. A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nat Genet. 1999;22:199–202.
Takeuchi T, Hayashi T, Bedell M, Zhang K, Yamada H, Tsuneoka H. A novel haplotype with the R345W mutation in the EFEMP1 gene associated with autosomal dominant drusen in a Japanese family. Invest Ophthalmol Vis Sci. 2010;51:1643–50.
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Tsang, S.H., Sharma, T. (2018). Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese, Autosomal Dominant Drusen). In: Tsang, S., Sharma, T. (eds) Atlas of Inherited Retinal Diseases. Advances in Experimental Medicine and Biology, vol 1085. Springer, Cham. https://doi.org/10.1007/978-3-319-95046-4_18
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DOI: https://doi.org/10.1007/978-3-319-95046-4_18
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