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Basal laminar drusen caused by compound heterozygous variants in the CFH gene |
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| Authors: | Boon Camiel J F Klevering B Jeroen Hoyng Carel B Zonneveld-Vrieling Marijke N Nabuurs Sander B Blokland Ellen Cremers Frans P M den Hollander Anneke I |
| Institution: | 1 Department of Ophthalmology, Radboud University Nijmegen Medical Centre, 6525 GA Nijmegen, The Netherlands 2 Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, 6525 GA Nijmegen, The Netherlands 3 Centre for Molecular and Biomolecular Informatics, Radboud University Nijmegen, 6525 GA Nijmegen, The Netherlands |
| Abstract: | Age-related macular degeneration (AMD) is a multifactorial disease that is strongly associated with the Tyr402His variant in the complement factor H (CFH) gene. Drusen are hallmark lesions of AMD and consist of focal-inflammatory and/or immune-mediated depositions of extracellular material at the interface of the retinal pigment epithelium (RPE) and the Bruch membrane. We evaluated the role of CFH in 30 probands with early-onset drusen and identified heterozygous nonsense, missense, and splice variants in five families. The affected individuals all carried the Tyr402His AMD risk variant on the other allele. This supports an autosomal-recessive disease model in which individuals who carry a CFH mutation on one allele and the Tyr402His variant on the other allele develop drusen. Our findings strongly suggest that monogenic inheritance of CFH variants can result in basal laminar drusen in young adults, and this can progress to maculopathy and severe vision loss later in life. |
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