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Stargardt disease: A clinical case report of two sisters with different clinical development
Enfermedad de Stargardt: a propósito de dos hermanas con distintas evoluciones clínicas
S. Peñarrocha-Oltra
, Á. Rallo-López, E. Escrivá-Pastor
Corresponding author
Hospital Lluis Alcanyis, Xàtiva, Valencia, Spain
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Peñarrocha-Oltra, Á. Rallo-López, E. Escrivá-Pastor" "autores" => array:3 [ 0 => array:4 [ "nombre" => "S." "apellidos" => "Peñarrocha-Oltra" "email" => array:1 [ 0 => "Sonia.p.o@hotmail.com" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "*" "identificador" => "cor0005" ] ] ] 1 => array:2 [ "nombre" => "Á." "apellidos" => "Rallo-López" ] 2 => array:2 [ "nombre" => "E." "apellidos" => "Escrivá-Pastor" ] ] "afiliaciones" => array:1 [ 0 => array:2 [ "entidad" => "Hospital Lluis Alcanyis, Xàtiva, Valencia, Spain" "identificador" => "aff0005" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "<span class="elsevierStyleItalic">Corresponding author</span>." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Enfermedad de Stargardt: a propósito de dos hermanas con distintas evoluciones clínicas" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:8 [ "identificador" => "fig0015" "etiqueta" => "Figure 3" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr3.jpeg" "Alto" => 1768 "Ancho" => 1140 "Tamanyo" => 241888 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0015" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Retinograms performed at diagnosis showed flecks in the posterior pole and middle retina, which did not change over time. OCT images showed atrophy of the outer retinal layers in the perifoveal area, which did not progress over the years. The atrophy respected the subfoveal area, implying less involvement of the VF.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Introduction</span><p id="par0005" class="elsevierStylePara elsevierViewall">Despite being a rare disease, Stargardt's disease is well known as the most common hereditary macular dystrophy.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> Its prevalence is 1 per 8000–10,000 inhabitants.<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> It has autosomal recessive inheritance<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> although there are cases of autosomal dominant inheritance with incomplete penetrance.<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> The evolution of clinical cases is unforeseeable due to its high clinical heterogeneity. In some patients the disease has a slow, mild course and shows macular respect, while in others it has a rapid and aggressive course. Frequently several cases can be found in the same family.</p><p id="par0010" class="elsevierStylePara elsevierViewall">In the last five years, 368 papers on Stargardt disease have been published worldwide in PubMed. Under normal conditions, the photoreceptors and the retinal pigment epithelium (RPE) contain a membrane transporter encoded by the ABCA4 gene, whose function is to facilitate the elimination of retinal waste products.<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> In Stargardt disease this transporter is mutated. This causes an accumulation of vitamin A dimers, which are believed to be involved in the deposition of excess lipofuscin and complement activation, leading to EPR dysfunction<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a> with ensuing photoreceptor degeneration and irreversible bilateral central vision loss.</p><p id="par0015" class="elsevierStylePara elsevierViewall">The age of presentation of the disease is important, as it tends to be more aggressive when it begins at an early age.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> It most often begins in childhood or adolescence.<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> It does not lead to a complete lack of vision, but patients may lose visual acuity to the point of legal blindness.<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> The aim of this study is to present two sisters with Stargardt disease, with different clinical evolution.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Clinical cases</span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Case 1</span><p id="par0020" class="elsevierStylePara elsevierViewall">Female, 26, who attended ophthalmology consultations for bilateral VA reduction with time of evolution, with no other symptomatology.</p><p id="par0025" class="elsevierStylePara elsevierViewall">Clinical examination showed a VA of 0.7 in both eyes (BE). Ocular fundus examination (OF) showed the typical yellowish-white lesions or flecks in the posterior pole, due to lipofuscin accumulation. Initial OCT images (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>) showed atrophy of the outer perifoveolar layers, with preservation of the subfoveal region. The Ishihara test showed alteration in almost all laminae in the right eye (RE) and less involvement in the left eye (LE). Multifocal ERG was altered for cones and rods in BE. The genetic study confirmed the diagnosis of the disease, finding the ABCA4 gene mutation in homozygosis.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0030" class="elsevierStylePara elsevierViewall">Autofluorescence (AF) images showed hyper- and hypoautofluorescent areas in the posterior pole, corresponding to lipofuscin deposits and areas of RPE atrophy, respectively (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>). Fluorescein angiography (FFA) showed the characteristic choroidal silence with hypofluorescence due to blockage of the normal fluorescence of the choroid by lipofuscin accumulation in the RPE.</p><p id="par0035" class="elsevierStylePara elsevierViewall">In the following three years, the patient exhibited gradual VA reduction due to progressive atrophy of the outer layers and the RPE in the subfoveal region (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>), with the development of a bilateral absolute scotoma (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>), which was assessed by means of Humphrey perimeter, SITA FAST 24:2 program.</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0040" class="elsevierStylePara elsevierViewall">The patient was treated with general measures, avoiding sun exposure and avoiding foods rich in vitamin A (Tsang). Despite this, the disease continued to progress, with visual acuity dropping to 0.4 in BE. In 2018, the patient was recruited to participate in a clinical trial with a complement factor C5 inhibitor drug, Avancincaptad Pegol (Zimura®). One year later, she had endophthalmitis in the RE as a consequence of the intravitreal injections, with her VA dropping to finger count at 1 m. The VA in the LE remained at 0.4 three years after diagnosis.</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Case 2</span><p id="par0045" class="elsevierStylePara elsevierViewall">Given the findings in case 1, her sister, five years older, was studied despite being clinically asymptomatic. Visual acuity was 1 in BE. On OF, flecks were visualized in the posterior pole and middle retina. OCT showed a subfoveal saucer with preserved outer layers and large areas of perifoveal atrophy (<a class="elsevierStyleCrossRef" href="#fig0015">Fig. 3</a>). In FA, hypofluorescent areas due to RPE atrophy and hyperfluorescent areas due to lipofuscin accumulation were observed. A visual field with Humphrey perimeter, SITA FAST 24:2 program, showed a bilateral central small scotoma (<a class="elsevierStyleCrossRef" href="#fig0015">Fig. 3</a>). Three years later, the patient remained asymptomatic with a VA of 1.</p><elsevierMultimedia ident="fig0015"></elsevierMultimedia></span></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0045">Discussion</span><p id="par0050" class="elsevierStylePara elsevierViewall">Stargardt disease is one of the most common hereditary causes of irreversible vision loss, both in children and adults.<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a> Developments in imaging techniques and genetic sequencing have allowed earlier and more accurate diagnosis of the disease.</p><p id="par0055" class="elsevierStylePara elsevierViewall">The visual acuity of patients affected by this disease is between 0.3 and 0.<span class="elsevierStyleSup">12</span> There is evidence to support that differences in disease severity between patients may be due to mutations in the ABCA4 gene. Patients who have their debut in childhood seem to have more defective variants (<span class="elsevierStyleItalic">non-sense</span> mutations) compared to the mutations of patients who present with adult onset of the disease or who show macular respect (more frequently <span class="elsevierStyleItalic">miss-sense</span> variants)<span class="elsevierStyleSup">3,</span> as occurs in the second case described. That is, the different clinical situation between the two cases presented seems to be due to macular involvement. In the first case, as the subfoveal region was damaged, the VA and CV were severely affected, whereas in the second case, which showed subfoveal sparing, the patient continued to have a VA of one.</p><p id="par0060" class="elsevierStylePara elsevierViewall">In terms of treatment, there is no cure. Current therapy for the disease is based on general measures, such as avoiding intense exposure to sunlight and restricting vitamin A-rich foods and supplements to slow the progression of the disease.<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> At present, more clinical trials are conducted for Stargardt disease than for any other inherited retinal disease.<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> Among the different lines of research currently underway, the following stand out: A) Gene therapy to introduce functional ABCA4 using adenovirus as a vector into the subretinal space.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">8</span></a> In this way, functional membrane transporters would be produced, avoiding the accumulation of vitamin A dimers and their toxicity. B) Intravitreal injection of stem cells into the subretinal space to introduce functional RPE stem cells to replace the damaged cells.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">9</span></a> C) Intravitreal injections of anti-C5 to avoid the activation of the complement system, preventing the formation of the Membrane Attack Complex and consequent cell death.<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a> The latter was the treatment that our patient underwent.</p><p id="par0065" class="elsevierStylePara elsevierViewall">Participation in a clinical trial is the only way to access the most innovative treatments free of charge as well as receiving personalised and cutting-edge care from expert doctors. However, there are also risks derived from both the medication itself and the route of administration. The risks intrinsic to the drug are only partially known, as they have not yet been marketed and their use has been limited. Risks due to the administration pathway are in general unusual but can arise, as in the first case discussed in this article. Therefore, at present, it is still difficult to assess the risk-benefit of these novel treatments and it would be necessary to complete the phases of the various clinical trials to be able to apply them in the general population and thus draw solid conclusions.</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0050">Conclusions</span><p id="par0070" class="elsevierStylePara elsevierViewall">The course of Stargardt’s disease depends mainly on whether the foveal region is affected or not so that, if there is atrophy of the subfoveal photoreceptors, visual acuity diminishes drastically. On the other hand, if the zone of maximum vision is preserved, patients can present with the disease, without having VA impairment. Numerous promising clinical trials are underway to treat the disease. However, there is still no curative treatment and these patients continue to lose central vision bilaterally and irreversibly, making it necessary to continue research into new therapeutic measures to stop or try to reverse the outcome in legal blindness.</p></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0055">Conflict of interest</span><p id="par0075" class="elsevierStylePara elsevierViewall">No conflict of interests was declared by the authors.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:10 [ 0 => array:3 [ "identificador" => "xres1616854" "titulo" => "Abstract" "secciones" => array:1 [ 0 => array:1 [ "identificador" => "abst0005" ] ] ] 1 => array:2 [ "identificador" => "xpalclavsec1445007" "titulo" => "Keywords" ] 2 => array:3 [ "identificador" => "xres1616855" "titulo" => "Resumen" "secciones" => array:1 [ 0 => array:1 [ "identificador" => "abst0010" ] ] ] 3 => array:2 [ "identificador" => "xpalclavsec1445008" "titulo" => "Palabras clave" ] 4 => array:2 [ "identificador" => "sec0005" "titulo" => "Introduction" ] 5 => array:3 [ "identificador" => "sec0010" "titulo" => "Clinical cases" "secciones" => array:2 [ 0 => array:2 [ "identificador" => "sec0015" "titulo" => "Case 1" ] 1 => array:2 [ "identificador" => "sec0020" "titulo" => "Case 2" ] ] ] 6 => array:2 [ "identificador" => "sec0025" "titulo" => "Discussion" ] 7 => array:2 [ "identificador" => "sec0030" "titulo" => "Conclusions" ] 8 => array:2 [ "identificador" => "sec0035" "titulo" => "Conflict of interest" ] 9 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2020-08-29" "fechaAceptado" => "2020-11-18" "PalabrasClave" => array:2 [ "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Keywords" "identificador" => "xpalclavsec1445007" "palabras" => array:3 [ 0 => "Stargardt’s disease" 1 => "Macular dystrophy" 2 => "Optical coherence tomography" ] ] ] "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec1445008" "palabras" => array:3 [ 0 => "Enfermedad de Stargardt" 1 => "Distrofia macular" 2 => "Tomografía de coherencia óptica" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "en" => array:2 [ "titulo" => "Abstract" "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">The purpose of this article is to describe the clinical manifestations and complementary diagnostic tests of two sisters aged 26 and 31 with a diagnosis of Stargardt's disease. One of them presented with an initial visual acuity of 0.7 and showed a progressive central visual loss due to the atrophy of the external layers of the retina in the subfoveal region. She was recruited to participate in a clinical trial of Avancincaptad Pegol (Zimura®), an inhibitor of C5 of the complement’s system. The other sister remained asymptomatic with a visual acuity of 1 in both eyes. In both cases white-yellow pisciform lesions were observed on the posterior pole. Although there is no curative treatment for this disease, there are many lines of investigation on this topic. The clinical and diagnostic tests can confirm the disease, and provide patients with an accurate prognosis.</p></span>" ] "es" => array:2 [ "titulo" => "Resumen" "resumen" => "<span id="abst0010" class="elsevierStyleSection elsevierViewall"><p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">Se describen las manifestaciones clínicas y pruebas diagnósticas complementarias de dos hermanas de 26 y 31 años, con diagnóstico de enfermedad de Stargardt y su diferente evolución. Una de ellas presentó una agudeza visual (AV) inicial de 0’7, con disminución progresiva de la visión central por atrofia de las capas externas de la retina a nivel subfoveal, y fue reclutada para participar en un ensayo clínico con Avancincaptad Pegol (Zimura®), un inhibidor del factor de complemento C5. La otra hermana permaneció asintomática, con AV de 1 en ambos ojos. En los dos casos se apreciaron lesiones pisciformes blanco-amarillentas distribuidas en el polo posterior. No existe un tratamiento curativo para esta enfermedad, aunque en la actualidad hay numerosas líneas de investigación. La clínica y las pruebas diagnósticas permiten confirmar la enfermedad y dar a los pacientes un adecuado pronóstico.</p></span>" ] ] "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Peñarrocha-Oltra S, Rallo-López Á, Escrivá-Pastor E. Enfermedad de Stargardt: a propósito de dos hermanas con distintas evoluciones clínicas. Arch Soc Esp Oftalmol. 2021;96:673–676.</p>" ] ] "multimedia" => array:3 [ 0 => array:8 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 877 "Ancho" => 1674 "Tamanyo" => 154749 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0005" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">(A) Imaging tests performed at diagnosis. OCT showed atrophy in the outer perifoveolar layers with some preservation of the subfoveal region; FA showed hyper- and hypoautofluorescent areas in the posterior pole; and retinography showed flecks in the posterior pole and middle retina. B) The same tests were performed three years later. OCT showed progression of photoreceptor and RPE atrophy, also affecting the subfoveal area; FA showed hyperautofluorescent areas and a greater number of hypoautofluorescent areas due to the growth of atrophy; and retinography showed an increase in the number of flecks.</p>" ] ] 1 => array:8 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 1654 "Ancho" => 1490 "Tamanyo" => 240530 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0010" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Progressive atrophy of the outer layers and the RPE in the subfoveal region causing gradual decrease in visual acuity and field with progressive bilateral central scotoma.</p>" ] ] 2 => array:8 [ "identificador" => "fig0015" "etiqueta" => "Figure 3" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr3.jpeg" "Alto" => 1768 "Ancho" => 1140 "Tamanyo" => 241888 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0015" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Retinograms performed at diagnosis showed flecks in the posterior pole and middle retina, which did not change over time. OCT images showed atrophy of the outer retinal layers in the perifoveal area, which did not progress over the years. The atrophy respected the subfoveal area, implying less involvement of the VF.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:9 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "P. Tanna" 1 => "R.W. Strauss" 2 => "K. Fujinami" 3 => "M. 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