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Unilateral pattern of macular dystrophy and associated systemic pathology
Distrofia macular en patrón unilateral y enfermedad sistémica asociada
V.M. Asensio-Sánchez
Servicio de Oftalmología, Hospital Clínico Universitario, Valladolid, Spain
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Absence of significant fundoscopic alterations. Bilateral retinal pigment epithelium atrophy at the peripapillary level, slightly extending along the path of the temporal arches (A and B). Optic disc slightly oblique in the LE (B).</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "J. Galindo-Bocero, S. Macías-Franco, N. García-González, C. Valles-Antuña, I. Hernando Acero, P. Rozas-Reyes" "autores" => array:6 [ 0 => array:2 [ "nombre" => "J." "apellidos" => "Galindo-Bocero" ] 1 => array:2 [ "nombre" => "S." "apellidos" => "Macías-Franco" ] 2 => array:2 [ "nombre" => "N." "apellidos" => "García-González" ] 3 => array:2 [ "nombre" => "C." "apellidos" => "Valles-Antuña" ] 4 => array:2 [ "nombre" => "I." "apellidos" => "Hernando Acero" ] 5 => array:2 [ "nombre" => "P." 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Gegúndez-Fernández, A. Piñero-Bustamante, J.M. Benítez-del-Castillo, J. García-Feijoo, F.J. Muñoz-Negrete, M.S. Figueroa, J.L. Encinas-Martín" "autores" => array:7 [ 0 => array:2 [ "nombre" => "J.A." "apellidos" => "Gegúndez-Fernández" ] 1 => array:2 [ "nombre" => "A." "apellidos" => "Piñero-Bustamante" ] 2 => array:2 [ "nombre" => "J.M." "apellidos" => "Benítez-del-Castillo" ] 3 => array:2 [ "nombre" => "J." "apellidos" => "García-Feijoo" ] 4 => array:2 [ "nombre" => "F.J." "apellidos" => "Muñoz-Negrete" ] 5 => array:2 [ "nombre" => "M.S." "apellidos" => "Figueroa" ] 6 => array:2 [ "nombre" => "J.L." "apellidos" => "Encinas-Martín" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "es" => array:9 [ "pii" => "S0365669120303154" "doi" => "10.1016/j.oftal.2020.07.019" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0365669120303154?idApp=UINPBA00004N" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2173579420302012?idApp=UINPBA00004N" "url" => "/21735794/0000009500000012/v1_202012200623/S2173579420302012/v1_202012200623/en/main.assets" ] "en" => array:20 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Short communication</span>" "titulo" => "Unilateral pattern of macular dystrophy and associated systemic pathology" "tieneTextoCompleto" => true "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "603" "paginaFinal" => "606" ] ] "autores" => array:1 [ 0 => array:3 [ "autoresLista" => "V.M. Asensio-Sánchez" "autores" => array:1 [ 0 => array:3 [ "nombre" => "V.M." "apellidos" => "Asensio-Sánchez" "email" => array:1 [ 0 => "victor_asensio@orangemail.es" ] ] ] "afiliaciones" => array:1 [ 0 => array:2 [ "entidad" => "Servicio de Oftalmología, Hospital Clínico Universitario, Valladolid, Spain" "identificador" => "aff0005" ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Distrofia macular en patrón unilateral y enfermedad sistémica asociada" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:8 [ "identificador" => "fig0010" "etiqueta" => "Fig. 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 1613 "Ancho" => 1505 "Tamanyo" => 238416 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0010" "detalle" => "Fig. " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">(A) Left: RE retinography showing pigment epithelium alteration in the macula with whitish-orange discoloration. Right: normal LE retinography. (B) Left: background autofluorescence of RE showing a hyperfluorescent deposit in the macula in reticular pattern; hypofluorescent lesions correspond to disruption of macular RPE. Right: background autofluorescence of normal LE. (C) Left: Fluorescein angiography in the LE in which hyperfluorescence of the lesions is observed during the early phases with residual staining in the late phases. Right: Fluorescein angiography in normal LE.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Introduction</span><p id="par0005" class="elsevierStylePara elsevierViewall">Pattern dystrophy (PD) is the general term for a group of inherited, degenerative retinal diseases in which the accumulation of lipofuscin produces different patterns of damage.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> Patients with PD usually have symptoms in both eyes and may have a different pattern of damage in each eye.<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1–3</span></a> PD may be associated with different systemic diseases, although such an association is difficult to establish due to the fact that, when the systemic process is diagnosed, visual acuity in most patients is normal.<a class="elsevierStyleCrossRefs" href="#bib0020"><span class="elsevierStyleSup">4–7</span></a> The case of a patient who presented unilateral PD symptomatology after being diagnosed with McArdle disease and idiopathic pulmonary fibrosis (IPF) is described.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Clinical case</span><p id="par0010" class="elsevierStylePara elsevierViewall">Female, 62, who reported loss of vision in the right eye (RE) in the last year. The patient had a significant medical history: at 28 years old she started with generalized muscle pain, stronger in the legs, and fatigue only with intense exercise. Four years later, a muscle biopsy enabled the diagnostic of McArdle's disease. Two years ago, she referred breathing difficulty with moderate intensity effort, which is now so severe that she has to carry oxygen 24<span class="elsevierStyleHsp" style=""></span>h a day which prevents ambulatory activity. A lung biopsy was taken to diagnose IPF (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>). Examination produced a maximum visual acuity of 0.6 in the RE and 1 in the left eye (LE). Anterior segment biomicroscopy examination was normal. Intraocular pressure was 18<span class="elsevierStyleHsp" style=""></span>mmHg in both eyes. Fundus examination with retinography showed in the RE alteration of the pigmentary epithelium in the macula, with orange discoloration (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>A, left). Fundus scan by retinography was normal in LE (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>A, right). Autofluorescence LE fundus images showed a hyperfluorescent deposit in the macula with reticular pattern (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>B, left). LE autofluorescence was normal (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>B, right). Fluorescein angiography in the LE showed hyperfluorescence of the lesions during the early phases, with residual staining in the late phases (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>C, left) and normality in the choroidal phase. LE fluorescein angiography was normal (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>C, right). In the SS-OCT scan, protrusions and elevations of retinal pigment epithelium (RPE) associated with the presence of hyperreflective heterogeneous material were observed in the LE. Focal interruptions of the junction between the external-internal segments of the photoreceptors and in the external limiting membrane were observed. Accumulations of hyperreflective material were observed in the outer nuclear layer and in the outer plexiform layer, but also in the inner nuclear layer (<a class="elsevierStyleCrossRef" href="#fig0015">Fig. 3</a> left). LE OCT was normal (<a class="elsevierStyleCrossRef" href="#fig0015">Fig. 3</a> right). The patient had no family history of retinal dystrophy or McArdle's disease.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><elsevierMultimedia ident="fig0015"></elsevierMultimedia></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Discussion</span><p id="par0015" class="elsevierStylePara elsevierViewall">PD is an autosomal dominant group of inherited macular diseases characterized by the accumulation of pigment in RPE cells.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> The age of onset is variable and symptoms, when present, tend to manifest between the fourth and sixth decades of life.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> According to the pattern of lipofuscin and pigment deposition seen in the fundus, they are classified as adult foveomacular vitelliform dystrophy, butterfly dystrophy, reticular dystrophy, multifocal pattern dystrophy simulating <span class="elsevierStyleItalic">flavimaculatus</span> fundus and <span class="elsevierStyleItalic">pulverulentus</span> fundus, but in fact PD is a unique disease with variable penetrance and expressiveness.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> The gene involved is RDS/periferin, which is located on chromosome 6p21.2.<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> This gene encodes a glycoprotein (periferine 2) which plays a role in the development, maintenance and stabilization of the discs of outer photoreceptor segments.<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> Although PD shows diversity in clinical presentation, relatively consistent findings in fluorescein angiography/optical coherence tomography make it easier not to misdiagnose as age-related macular degeneration. PD is characterized by bilateral and symmetrical deposits in the RPE. Hannan et al.<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> described a series of 20 PD patients in which only 10% were unilateral.</p><p id="par0020" class="elsevierStylePara elsevierViewall">Interestingly, PD can be associated with apparently unrelated diseases such as myotonic dystrophy, pseudoxanthoma elasticum, maternal inherited diabetes-deafness, Crohn's disease and hereditary spastic paraplegia.<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> Glycogen storage diseases are a group of inherited metabolic disorders that result from a defect in any of the enzymes required for glycogen synthesis or degradation. In general terms, glycogen storage diseases are divided in 2 groups, those with liver involvement and those with neuromuscular involvement and weakness. McArdle disease (glycogen storage disease type V) belongs to the second group. It is a rare autosomal recessive disease with mutations in the PYGM gene (chromosome 11q13.1) which encodes the enzyme glycogen phosphorylase required for the utilization of glycogen within the cell.<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> Diagnosis requires a very high rate of suspicion on the part of the clinician and is based on an exercise test on the forearm showing the inability to produce lactate, the absence of glycogen phosphorylase in the muscle biopsy or DNA analysis of the PYGM gene.<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a></p><p id="par0025" class="elsevierStylePara elsevierViewall">The present patient was diagnosed at age 32, after years of fatigue and intolerance to heavy exercise. The muscle biopsy was diagnostic. There is no specific treatment, but the symptoms can be managed by controlling intense physical activity and maintaining a low carbohydrate regime. Accordingly, the patient has led a normal life until the appearance of the disabling lung problem.<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1,6</span></a> Other retinal manifestations with other types of glycogen storage diseases are delayed choroidal fluorescence in FFA, atrophy of RPE and choriocapillary, extensive peripheral pigmentary retinal dystrophy, a subnormal Arden index on the electrooculogram and gradual attenuation of wave b on the electroretinogram.<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">IPF is a rare lung disease in which the interstitial lung tissue becomes fibrous and scarred. This fibrosis hardens the lungs, making it increasingly difficult to breathe deeply. The disease is probably the result of complex interactions between genetic and environmental factors, although 5 variants in the MUC5B gene located on chromosome 11p15.5 are associated with significant susceptibility to IPF.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">8</span></a> The described patient showed unilateral PD associated with McArdle disease and IPF, associations that we have not been able to find in the bibliographic bases consulted. Although cases of unilateral pattern dystrophies are described, <span class="elsevierStyleItalic">unilateralism is rare in the case of association with a genetic disease.</span> The published cases of pattern dystrophy associated with McArdle's disease show bilateral compromise, <span class="elsevierStyleItalic">although not all of them produce bilateral symptoms, but signs can be observed in fundus images and supplementary tests</span>. Leonardy et al.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">9</span></a> described the first patient with PD and McArdle's disease. Mahroo et al.<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a> published a series of patients with McArdle disease and PD who lacked mutations in the RDS/peripheral gene, so they considered them to be 2 distinct processes with the same phenotype.</p><p id="par0035" class="elsevierStylePara elsevierViewall">Many genetic diseases express at birth, while others show no symptoms until adulthood, such as the 3 described in this patient. In these late-onset diseases, the causes of onset, progression and association are poorly known due to the complexity of the genetic mechanisms involved as well as the interaction between these mechanisms and the environment. While some mutations that contribute to these diseases are present at birth, others may appear as failures of genome replication mechanisms. Some of these failures could be attributed to mutagens in the environment. In addition to causing mutations, mutagens can also trigger the expression of otherwise dormant genes. Despite being inevitable, the onset of disease may be regulated by modifier genes. Thus, this combination of accumulated mutations and inappropriately activated genes may express in the progressive association of the 3 diseases in this patient. In McArdle's disease, there is a glycogen phosphorylase deficiency in skeletal muscle. In RPE there are isoforms of glycogen phosphorylase in muscle, so the mutation of the PYGM gene would have the potential to produce RPE dysfunction.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">10</span></a> A further possibility is that a mutation in the PYGM gene could successively cause an imbalance in not necessarily nearby locus involved in RPE and lung function. Gene expression is controlled by regulatory elements that can be located far along the chromosome (short and long arm of chromosome 11) and even in other chromosomes (chromosome 6) and give rise to chromosomal interactions that may involve physical contacts between different chromosomes.</p><p id="par0040" class="elsevierStylePara elsevierViewall">There are no reported cases of IPF associated with McArdle's disease, retinal dystrophies or both. While the exact genetic etiology for the link between McArdle disease, IPF and unilateral PD remains unclear, the association of different diseases that may have a genetic link in common is established with this case.</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Conflict of interests</span><p id="par0045" class="elsevierStylePara elsevierViewall">No conflict of interests was declared by the authors.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:9 [ 0 => array:3 [ "identificador" => "xres1438260" "titulo" => "Abstract" "secciones" => array:1 [ 0 => array:1 [ "identificador" => "abst0005" ] ] ] 1 => array:2 [ "identificador" => "xpalclavsec1312857" "titulo" => "Keywords" ] 2 => array:3 [ "identificador" => "xres1438259" "titulo" => "Resumen" "secciones" => array:1 [ 0 => array:1 [ "identificador" => "abst0010" ] ] ] 3 => array:2 [ "identificador" => "xpalclavsec1312858" "titulo" => "Palabras clave" ] 4 => array:2 [ "identificador" => "sec0005" "titulo" => "Introduction" ] 5 => array:2 [ "identificador" => "sec0010" "titulo" => "Clinical case" ] 6 => array:2 [ "identificador" => "sec0015" "titulo" => "Discussion" ] 7 => array:2 [ "identificador" => "sec0020" "titulo" => "Conflict of interests" ] 8 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2020-03-19" "fechaAceptado" => "2020-05-26" "PalabrasClave" => array:2 [ "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Keywords" "identificador" => "xpalclavsec1312857" "palabras" => array:6 [ 0 => "Macula" 1 => "Pattern dystrophy" 2 => "Unilateral" 3 => "McArdle disease" 4 => "Idiopathic pulmonary fibrosis" 5 => "Glycogen storage diseases" ] ] ] "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec1312858" "palabras" => array:6 [ 0 => "Mácula" 1 => "Distrofia en patrón" 2 => "Unilateral" 3 => "Enfermedad de McArdle" 4 => "Fibrosis pulmonar idiopática" 5 => "Enfermedades por almacenamiento de glucógeno" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "en" => array:2 [ "titulo" => "Abstract" "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Retinal pattern dystrophies are a heterogeneous group of generally bilateral and symmetrical maculopathies that, curiously, can be associated with different systemic diseases. This article describes a patient with unilateral pattern dystrophies, as well as associated McArdle disease and idiopathic pulmonary fibrosis.</p></span>" ] "es" => array:2 [ "titulo" => "Resumen" "resumen" => "<span id="abst0010" class="elsevierStyleSection elsevierViewall"><p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">Las distrofias en patrón de la retina son un grupo heterogéneo de maculopatías, en general, bilaterales y simétricas, que curiosamente se pueden asociar a diferentes enfermedades sistémicas. En este artículo se describe el caso de una paciente con distrofia en patrón unilateral que presentó asociada enfermedad de McArdle y fibrosis pulmonar idiopática.</p></span>" ] ] "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Asensio-Sánchez VM. Distrofia macular en patrón unilateral y enfermedad sistémica asociada. Arch Soc Esp Oftalmol. 2020;95:603–606.</p>" ] ] "multimedia" => array:3 [ 0 => array:8 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 862 "Ancho" => 905 "Tamanyo" => 78131 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0005" "detalle" => "Fig. " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">X-ray shows bilateral lung volume reduction, more intense on the right, expressed by tracheal deviation (black arrow). Mediastinal displacement (yellow arrows) and diaphragmatic elevation (red arrows) can be seen. There is also a marked intensity of interstitial markings and pulmonary reticulation (green arrows).</p>" ] ] 1 => array:8 [ "identificador" => "fig0010" "etiqueta" => "Fig. 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 1613 "Ancho" => 1505 "Tamanyo" => 238416 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0010" "detalle" => "Fig. " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">(A) Left: RE retinography showing pigment epithelium alteration in the macula with whitish-orange discoloration. Right: normal LE retinography. (B) Left: background autofluorescence of RE showing a hyperfluorescent deposit in the macula in reticular pattern; hypofluorescent lesions correspond to disruption of macular RPE. Right: background autofluorescence of normal LE. (C) Left: Fluorescein angiography in the LE in which hyperfluorescence of the lesions is observed during the early phases with residual staining in the late phases. Right: Fluorescein angiography in normal LE.</p>" ] ] 2 => array:8 [ "identificador" => "fig0015" "etiqueta" => "Fig. 3" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr3.jpeg" "Alto" => 835 "Ancho" => 905 "Tamanyo" => 135996 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0015" "detalle" => "Fig. " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Left: SS-OCT of the RE where RPE elevations associated with the deposition of heterogeneous hyperreflective material are observed. Focal interruptions in the junction of outer-inner photoreceptor segments and in the outer limiting membrane. Accumulations of hyperreflective material are seen in the nuclear and outer plexiform layers, but also in the inner nuclear layer. Right: SS-OCT of normal RO.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:10 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Pattern dystrophy of the retinal pigment epithelium" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "M.F. Marmor" 1 => "B. 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