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Together, optic disc drusen and angioid streaks represent an ectopic calcification phenotype in the eye and can be seen in the more common inherited condition of pseudoxanthoma elasticum or other inherited haemolytic anaemias such as sickle cell or thalassaemia. These associations highlight the role of pyrophosphate as a physiological inhibitor of calcification, and deficiencies of serum pyrophosphate lead to excessive and ectopic calcification. This raises intriguing hypotheses for the treatment of optic disc drusen, angioid streaks and other conditions of ectopic calcification.<\/jats:p>","DOI":"10.1136\/bcr-2025-265294","type":"journal-article","created":{"date-parts":[[2025,5,23]],"date-time":"2025-05-23T03:46:44Z","timestamp":1747972004000},"page":"e265294","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Angioid streaks and optic disc drusen in a patient with congenital dyserythropoietic anaemia"],"prefix":"10.1136","volume":"18","clinical-trial-number":[{"clinical-trial-number":"nct04868578","registry":"10.18810\/clinical-trials-gov"}],"author":[{"given":"Yuanzhang","family":"Jiao","sequence":"first","affiliation":[{"name":"Ophthalmology, Wellington Regional Hospital, Wellington, New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huib","family":"Buyck","sequence":"additional","affiliation":[{"name":"Haematology, Wellington Regional Hospital, Wellington, New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6616-445X","authenticated-orcid":false,"given":"Jesse","family":"Gale","sequence":"additional","affiliation":[{"name":"Ophthalmology, Wellington Regional Hospital, Wellington, New Zealand"},{"name":"Department of Surgery & Anaesthesia, University of Otago Wellington, Wellington, New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2025,5,22]]},"reference":[{"key":"2025082711103982000_18.5.e265294.1","doi-asserted-by":"publisher","DOI":"10.1097\/WNO.0000000000000585"},{"key":"2025082711103982000_18.5.e265294.2","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1111\/aos.15690","article-title":"Prevalence of optic disc drusen: A systematic review, meta-analysis and forecasting study","volume":"102","author":"Mukriyani","year":"2024","journal-title":"Acta Ophthalmol"},{"key":"2025082711103982000_18.5.e265294.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2005.01.020"},{"key":"2025082711103982000_18.5.e265294.4","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1097\/WNO.0000000000001801","article-title":"Rates of Visual Field Change in Eyes With Optic Disc Drusen","volume":"43","author":"Estrela","year":"2023","journal-title":"J Neuroophthalmol"},{"key":"2025082711103982000_18.5.e265294.5","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1111\/aos.13315","article-title":"Long-term evolution of superficial optic disc drusen","volume":"95","author":"Malmqvist","year":"2017","journal-title":"Acta Ophthalmol"},{"key":"2025082711103982000_18.5.e265294.6","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1016\/j.ajo.2020.03.052","article-title":"Young Adults With Anterior Ischemic Optic Neuropathy: A Multicenter Optic Disc Drusen Study","volume":"217","author":"Hamann","year":"2020","journal-title":"Am J Ophthalmol"},{"key":"2025082711103982000_18.5.e265294.7","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1080\/01658107.2018.1444060","article-title":"Optic Nerve Head Drusen: An Update","volume":"42","author":"Palmer","year":"2018","journal-title":"Neuroophthalmology"},{"key":"2025082711103982000_18.5.e265294.8","doi-asserted-by":"crossref","first-page":"4555","DOI":"10.3390\/ijms22094555","article-title":"ABCC6, Pyrophosphate and Ectopic Calcification: Therapeutic Solutions","volume":"22","author":"Shimada","year":"2021","journal-title":"Int J Mol Sci"},{"key":"2025082711103982000_18.5.e265294.9","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1016\/j.ophtha.2016.10.035","article-title":"Optic Nerve Head Drusen Prevalence and Associated Factors in Clinically Normal Subjects Measured Using Optical Coherence Tomography","volume":"124","author":"Ghassibi","year":"2017","journal-title":"Ophthalmology"},{"key":"2025082711103982000_18.5.e265294.10","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2012.12.035"},{"key":"2025082711103982000_18.5.e265294.11","doi-asserted-by":"crossref","unstructured":"Jiao Y , Gale J . 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