Editorial
Rare diseases in ophthalmology
Enfermedades raras en oftalmología
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Jiménez Benito, M.A. Saornil Álvarez, L. Macías Molinero, N. Gajate Paniagua" "autores" => array:4 [ 0 => array:4 [ "nombre" => "J." "apellidos" => "Jiménez Benito" "email" => array:1 [ 0 => "jjimenez@saludcastillayleon.es" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "M.A." "apellidos" => "Saornil Álvarez" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 2 => array:3 [ "nombre" => "L." "apellidos" => "Macías Molinero" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 3 => array:3 [ "nombre" => "N." "apellidos" => "Gajate Paniagua" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] ] "afiliaciones" => array:2 [ 0 => array:3 [ "entidad" => "Sección Vítreo-Retina, Servicio de Oftalmología, Hospital Universitario de Burgos, Burgos, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Unidad de Tumores Intraoculares, Servicio de Oftalmología, Hospital Clínico Universitario de Valladolid, Valladolid, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "<span class="elsevierStyleItalic">Corresponding author</span>." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Enfermedades raras en oftalmología" ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Health care for all citizens has been an extremely important social achievement which may not be sufficiently appreciated, especially by the younger generations who may think that it has always existed in all countries. It should be pointed out that public health care has only existed since the second half of the last century and, unfortunately, only in some countries.</p><p id="par0010" class="elsevierStylePara elsevierViewall">Once universal health care has been established, the difficult and complicated issue of care planning arises, which must be as fair as possible. For the authors of this editorial, it seems to us very relevant to understand justice in health care according to the maxim attributed to the utopian socialist thinker Louis Blanc (1811-1882): <span class="elsevierStyleItalic">From each according to his abilities, to each according to his needs.</span><a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a></p><p id="par0015" class="elsevierStylePara elsevierViewall">Perhaps the biggest issue in public health care is the assumption that resources are limited and the demands of the population on health care are almost infinite. Managing this situation requires a huge effort, which is why we consider it very important to reach a consensus.</p><p id="par0020" class="elsevierStylePara elsevierViewall">As public health system physicians, we accept the need to prioritise health care for serious pathologies, even if this means an unequal distribution of health resources; in other words, we must attend to the real health needs and, to a lesser extent, the demands for health check-ups. This, which seems obvious, is not so obvious to the health administration, which is very obsessed with waiting lists (demands) and much less with the quality of care (needs).</p><p id="par0025" class="elsevierStylePara elsevierViewall">The concept of “rare disease” (RD) is essentially an epidemiological criterion. The definition of RD is not uniform worldwide. In the USA, only the criterion of low prevalence is applied and a RD is defined as one that affects fewer than 200,000 people. In other areas of the world such as Australia or Asia, the prevalence criteria are different. In Spain (<span class="elsevierStyleItalic">Estrategia en Enfermedades Raras del Sistema Nacional de Salud</span>, 2014), as in the European Union (European Parliament, 1999), RDs are defined as those with a prevalence of less than 5 cases per 10,000 inhabitants (prevalence criterion) and with a risk of death or chronic disability (clinical criterion).<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">The difference with “common diseases” is mainly epidemiological, but not necessarily clinical, since RDs also have their etiology, pathogenesis, diagnosis, prognosis and treatment, and are therefore diseases that behave, in principle, like any other disease. However, RDs feature certain clinical features which, although found in other pathologies, are very marked: usually a genetic origin; often chronic, progressive and degenerative, putting people's lives at risk, and in many cases they debut at an early age.<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a></p><p id="par0035" class="elsevierStylePara elsevierViewall">It is estimated that there are between 6,000 and 8,000 RDs, of which at least 80% are genetic, affecting, as a whole, 6–8% of the population (around three million people in Spain and around 30 million in Europe). It is estimated that a third of these RD patients will suffer loss of personal autonomy, and up to half of them will have motor, sensory or intellectual disability. In our speciality, they can cause blindness or limited vision.</p><p id="par0040" class="elsevierStylePara elsevierViewall">It is worth noting that RDs have always existed, but in recent years they have been particularly relevant due to two scientific advances: the technological possibility of handling large series of data (big data), something that was impossible until recently, and the development of molecular biological techniques that allow the identification of the causal genes. It seems important to us to add the high level of association of patients with RDs, who have a presence in the media and the capacity to influence health policies.</p><p id="par0045" class="elsevierStylePara elsevierViewall">We have the intuition, from our many years of professional experience, that most patients with RDs, especially the severe and disabling ones, are treated in the public health system, where we perceive a worrying possibility of deterioration in care for RD, due to the obsession of the health authorities with waiting lists and even a certain disdain for the hyper-specialist ophthalmologists who are able to deal with these pathologies, but who, on occasions (and surprisingly) are considered “privileged and ineffective”. Patients with RD require more consultation time and often have a high economic impact on their treatments; both issues are opposed to the idea of business performance that has been installed in the mindset of healthcare managers, which has also become more acute in this COVID-19 pandemic, because 21st century society is no longer a disciplinary society, but a performance society.<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a></p><p id="par0050" class="elsevierStylePara elsevierViewall">Some RDs can be treated in hospitals with a good level of care, although they entail many difficulties for the ophthalmologist such as obtaining authorisation to request genetic studies, the possibility (or rather the need) to consult geneticists to help in the interpretation of the results and in genetic counselling, not to mention the complications in accessing effective and safe treatments. For other ophthalmological RDs, the National Health System reference units (CSUR)<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> are required. “<span class="elsevierStyleItalic">Hyperspecialised</span>” care in said units for patients with RD enables better healthcare for them as well as equity in access to services with a high level of specialisation.</p><p id="par0055" class="elsevierStylePara elsevierViewall">Examples of RD in ophthalmology are: ocular albinism, retinitis pigmentosa, Usher syndrome, Stargardt disease, retinoblastoma, Leber’s hereditary optic neuropathy, Leber’s congenital amaurosis, Stickler syndrome, Axenfeld-Rieger syndrome among others, or pathologies that are more familiar to us, such as uveal melanoma, with an incidence of 4/1,000,000 inhabitants.<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a></p><p id="par0060" class="elsevierStylePara elsevierViewall">During our professional career, all ophthalmologists will have patients with RDs, often with their corresponding associations. People with a RD can be a sad example of exclusion and discrimination for the reasons outlined above. We end this editorial by repeating the idea of justice that we believe should exist in the healthcare field: “<span class="elsevierStyleItalic">From each according to his or her abilities, to each according to his or her needs</span>”.</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Conflict of interests</span><p id="par00040" class="elsevierStylePara elsevierViewall">The authors declare no conflict of interest.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:2 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Conflict of interests" ] 1 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Jiménez Benito J, Saornil Álvarez MA, Macías Molinero L, Gajate Paniagua N. Enfermedades raras en oftalmología. Arch Soc Esp Oftalmol. 2022;97:361–362.</p>" ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:6 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:1 [ "referenciaCompleta" => "De cada cual según sus capacidades, a cada cual según sus necesidades [5 de junio 2020]. En Wikipedia. [Accessed 4 February 2022]. Available from: <a target="_blank" href="https://es.wikipedia.org/w/index.php?title=De_cada_cual_seg%C3%BAn_sus_capacidades,_a_cada_cual_seg%C3%BAn_sus_necesidades&oldid=126694860">https://es.wikipedia.org/w/index.php?title=De_cada_cual_seg%C3%BAn_sus_capacidades,_a_cada_cual_seg%C3%BAn_sus_necesidades&oldid=126694860</a>." ] ] ] 1 => array:3 [ "identificador" => "bib0010" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Las enfermedades raras y sus problemas. 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