Cuticular drusen: Stars in the sky |
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| Affiliation: | 1. Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, The Netherlands;2. Oxford Eye Hospital, John Radcliffe Hospital, University of Oxford, Oxford, United Kingdom;3. Department of Ophthalmology, Leiden University Medical Centre, Leiden, The Netherlands;4. Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands;1. Ophthalmic Consultants of Boston, Boston, MA, USA;2. Department of Ophthalmology, Duke University Medical Center, Durham, NC, USA;3. Department of Ophthalmology, University of Bonn, Bonn, Germany;4. Department of Ophthalmology, University of Miami, Miami, FL, USA;5. Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, Australia;6. Retina Vitreous Associates Medical Group, Los Angeles, CA, USA;7. Apellis Pharmaceuticals, Waltham, MA, USA;8. Service d''Ophtalmologie, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France;9. Ophthalmology Department, University of Bordeaux, Bordeaux, France;10. Department of Ophthalmology, New York University, New York, NY, USA;11. New England Eye Center, Boston, MA, USA;12. Department of Ophthalmology, Royal Liverpool University Hospital, Liverpool, UK;13. California Retina Consultants, Santa Barbara, CA, USA;14. Charles Centro Oftalmológico, Buenos Aires, Argentina;15. Cumberland Valley Retina Consultants, Hagerstown, MD, USA;p. New England Retina Consultants, Springfield, MA, USA;q. Department of Biomedical and Clinical Science, Ospedale Luigi Sacco University of Milan, Milan, Italy;r. Institut de la Màcula, Centro Médico Teknon, Barcelona, Spain;s. Barcelona Macula Foundation: Research for Vision, Barcelona, Spain;t. Center for Ophthalmic Bioinformatics, Cleveland Clinic, Cleveland, OH, USA;u. Retina Consultants of Texas, Houston, TX, USA;v. Blanton Eye Institute, Houston, TX, USA;w. Houston Methodist Hospital, Houston, TX, USA;1. Retina Consultants PLLC, Slingerlands, New York;2. Albany Medical College, Department of Ophthalmology, Albany, New York;1. Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands;2. Department of Ophthalmology, St. Elisabeth Hospital, Tilburg, The Netherlands;3. Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands;4. Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands;1. Institute of Ophthalmology, University College London, London, United Kingdom;3. Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan;4. Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan;1. Department of Ophthalmology, Vita-Salute San Raffaele University, IRCCS San Raffaele Scientific Institute, Milan, Italy;2. Laboratory of Clinical Genomics, IRCCS San Raffaele Scientific Institute, Milan, Italy;3. Medical Genetics, IRCCS San Raffaele Scientific Institute, Milan, Italy;4. Unit of Genomics for Human Disease Diagnosis, IRCCS San Raffaele Scientific Institute, Milan, Italy |
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| Abstract: | Cuticular drusen is a specific clinical subtype of age-related macular degeneration (AMD). This subtype of AMD has an earlier age at onset, a stronger familial component, and genetic factors play a more prominent role in its development than in the general AMD population. In this review, we describe the clinical characteristics and differential diagnosis of cuticular drusen, as well as systemic associations including membranoproliferative glomerulonephritis type II. We discuss recent genetic and pathophysiological insights, and future therapeutic perspectives are highlighted. |
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| Keywords: | Cuticular drusen Drusen Age-related macular degeneration Complement system Genetics |
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