Short communication
X-linked retinoschisis: About a case
Retinosquisis ligada al X en homocigosis: a propósito de un caso
a Servicio de Oftalmología, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Madrid, Spain
b Unidad de Retina, Servicio de Oftalmología, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Madrid, Spain
c Unidad de Motilidad Ocular, Servicio de Oftalmología, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Madrid, Spain
Read
3
Timeswas read the article
1
Total PDF
2
Total HTML
Share statistics
array:24 [ "pii" => "S2173579422001530" "issn" => "21735794" "doi" => "10.1016/j.oftale.2022.09.002" "estado" => "S300" "fechaPublicacion" => "2022-12-01" "aid" => "2060" "copyright" => "Sociedad Española de Oftalmología" "copyrightAnyo" => "2022" "documento" => "article" "crossmark" => 1 "subdocumento" => "crp" "cita" => "Arch Soc Esp Oftalmol. 2022;97:705-8" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "Traduccion" => array:1 [ "es" => array:19 [ "pii" => "S0365669122002349" "issn" => "03656691" "doi" => "10.1016/j.oftal.2022.09.007" "estado" => "S300" "fechaPublicacion" => "2022-12-01" "aid" => "2060" "copyright" => "Sociedad Española de Oftalmología" "documento" => "simple-article" "crossmark" => 1 "subdocumento" => "crp" "cita" => "Arch Soc Esp Oftalmol. 2022;97:705-8" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "es" => array:13 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Comunicación corta</span>" "titulo" => "Retinosquisis ligada al X en homocigosis: A propósito de un caso" "tienePdf" => "es" "tieneTextoCompleto" => "es" "tieneResumen" => array:2 [ 0 => "es" 1 => "en" ] "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "705" "paginaFinal" => "708" ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "X-linked retinoschisis: About a case" ] ] "contieneResumen" => array:2 [ "es" => true "en" => true ] "contieneTextoCompleto" => array:1 [ "es" => true ] "contienePdf" => array:1 [ "es" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figura 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 963 "Ancho" => 2341 "Tamanyo" => 219350 ] ] "descripcion" => array:1 [ "es" => "<p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">Fotografía de campo amplio donde se evidencian alteraciones pigmentarias en el área macular.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "E. Pineda-Garrido, A. Ruiz-Guijosa, A. Valverde-Megías, B. Domingo-Gordo" "autores" => array:4 [ 0 => array:2 [ "nombre" => "E." "apellidos" => "Pineda-Garrido" ] 1 => array:2 [ "nombre" => "A." "apellidos" => "Ruiz-Guijosa" ] 2 => array:2 [ "nombre" => "A." "apellidos" => "Valverde-Megías" ] 3 => array:2 [ "nombre" => "B." "apellidos" => "Domingo-Gordo" ] ] ] ] ] "idiomaDefecto" => "es" "Traduccion" => array:1 [ "en" => array:9 [ "pii" => "S2173579422001530" "doi" => "10.1016/j.oftale.2022.09.002" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2173579422001530?idApp=UINPBA00004N" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0365669122002349?idApp=UINPBA00004N" "url" => "/03656691/0000009700000012/v1_202212011049/S0365669122002349/v1_202212011049/es/main.assets" ] ] "itemSiguiente" => array:19 [ "pii" => "S2173579422001517" "issn" => "21735794" "doi" => "10.1016/j.oftale.2022.10.001" "estado" => "S300" "fechaPublicacion" => "2022-12-01" "aid" => "2053" "copyright" => "Sociedad Española de Oftalmología" "documento" => "article" "crossmark" => 1 "subdocumento" => "crp" "cita" => "Arch Soc Esp Oftalmol. 2022;97:709-13" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "en" => array:13 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Short communication</span>" "titulo" => "Permanent damage of the inner retinal layers in a patient with migraine: a different case of paracentral acute middle maculopathy" "tienePdf" => "en" "tieneTextoCompleto" => "en" "tieneResumen" => array:2 [ 0 => "en" 1 => "es" ] "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "709" "paginaFinal" => "713" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Lesión permanente de las capas internas de la retina en una paciente con migraña: un caso diferente de maculopatía paracentral aguda media" ] ] "contieneResumen" => array:2 [ "en" => true "es" => true ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "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" => 1291 "Ancho" => 2500 "Tamanyo" => 294545 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0010" "detalle" => "Fig. " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Visual field test of the left eye performed with a Humphrey perimeter and the SITA 24-2 strategy. The image A shows the existence of a paracentral scotoma at the moment of the diagnosis, wich persists one year later (image B).</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "C.E. Monera Lucas, J. Escolano Serrano, D. Romero Valero, G. Castilla Martínez, S. Pardo López, R. Toledano Martos" "autores" => array:6 [ 0 => array:2 [ "nombre" => "C.E." "apellidos" => "Monera Lucas" ] 1 => array:2 [ "nombre" => "J." "apellidos" => "Escolano Serrano" ] 2 => array:2 [ "nombre" => "D." "apellidos" => "Romero Valero" ] 3 => array:2 [ "nombre" => "G." "apellidos" => "Castilla Martínez" ] 4 => array:2 [ "nombre" => "S." "apellidos" => "Pardo López" ] 5 => array:2 [ "nombre" => "R." "apellidos" => "Toledano Martos" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "es" => array:9 [ "pii" => "S0365669122002118" "doi" => "10.1016/j.oftal.2022.09.001" "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/S0365669122002118?idApp=UINPBA00004N" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2173579422001517?idApp=UINPBA00004N" "url" => "/21735794/0000009700000012/v1_202212030745/S2173579422001517/v1_202212030745/en/main.assets" ] "itemAnterior" => array:19 [ "pii" => "S2173579422000998" "issn" => "21735794" "doi" => "10.1016/j.oftale.2022.06.007" "estado" => "S300" "fechaPublicacion" => "2022-12-01" "aid" => "2010" "copyright" => "Sociedad Española de Oftalmología" "documento" => "article" "crossmark" => 1 "subdocumento" => "rev" "cita" => "Arch Soc Esp Oftalmol. 2022;97:692-704" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "en" => array:13 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Review</span>" "titulo" => "Endocanalicular Laser Dacryocystorhinostomy and its modifications: A systematic review of techniques and success rates" "tienePdf" => "en" "tieneTextoCompleto" => "en" "tieneResumen" => array:2 [ 0 => "en" 1 => "es" ] "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "692" "paginaFinal" => "704" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Dacriocistorrinostomía láser endocanalicular y sus modificaciones: revisión sistemática de técnicas y tasa de éxito" ] ] "contieneResumen" => array:2 [ "en" => true "es" => true ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:8 [ "identificador" => "fig0015" "etiqueta" => "Fig. 3" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr3.jpeg" "Alto" => 1736 "Ancho" => 1250 "Tamanyo" => 175104 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0015" "detalle" => "Fig. " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Schematic of laser dacryocystorhinostomy surgery showing the laser probe through the superior canaliculus.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "E. Navarro-Hernandez, A. Galindo-Ferreiro" "autores" => array:2 [ 0 => array:2 [ "nombre" => "E." "apellidos" => "Navarro-Hernandez" ] 1 => array:2 [ "nombre" => "A." "apellidos" => "Galindo-Ferreiro" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "es" => array:9 [ "pii" => "S0365669122000831" "doi" => "10.1016/j.oftal.2022.03.004" "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/S0365669122000831?idApp=UINPBA00004N" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2173579422000998?idApp=UINPBA00004N" "url" => "/21735794/0000009700000012/v1_202212030745/S2173579422000998/v1_202212030745/en/main.assets" ] "en" => array:19 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Short communication</span>" "titulo" => "X-linked retinoschisis: About a case" "tieneTextoCompleto" => true "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "705" "paginaFinal" => "708" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "E. Pineda-Garrido, A. Ruiz-Guijosa, A. Valverde-Megías, B. Domingo-Gordo" "autores" => array:4 [ 0 => array:4 [ "nombre" => "E." "apellidos" => "Pineda-Garrido" "email" => array:1 [ 0 => "elisapinedagarrido@gmail.com" ] "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" => "A." "apellidos" => "Ruiz-Guijosa" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 2 => array:3 [ "nombre" => "A." "apellidos" => "Valverde-Megías" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 3 => array:3 [ "nombre" => "B." "apellidos" => "Domingo-Gordo" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] ] ] "afiliaciones" => array:3 [ 0 => array:3 [ "entidad" => "Servicio de Oftalmología, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Madrid, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Unidad de Retina, Servicio de Oftalmología, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Madrid, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Unidad de Motilidad Ocular, Servicio de Oftalmología, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Madrid, Spain" "etiqueta" => "c" "identificador" => "aff0015" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "<span class="elsevierStyleItalic">Corresponding author</span>." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Retinosquisis ligada al X en homocigosis: a propósito de un caso" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:8 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 963 "Ancho" => 2341 "Tamanyo" => 188944 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0085" "detalle" => "Fig. " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Wide field photograph evidencing pigment alterations in the macular area.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0055">Introduction</span><p id="par0005" class="elsevierStylePara elsevierViewall">X-linked retinoschisis (RLX) is a relatively common cause of early retinal degeneration affecting males at an early age.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> It was first described by Haas in 1898 and is characterised by early visual loss and bilateral foveal schisis.<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">X-linked disorders classically affect only males although in some cases female carriers may have some features of the disease and the few descriptions of affected females lack the necessary genetic testing.<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> Molecular studies have identified the disease-causing gene as XLRS1 on chromosome Xp22. This gene codes for a photoreceptor and bipolar cell protein, retinoschisin, which is involved in cell adhesion and interaction.<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p><p id="par0015" class="elsevierStylePara elsevierViewall">There is currently no approved treatment for this pathology and the accepted therapeutic management comprises complications, which mainly include vitreous hemorrhage and retinal detachment.<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">The following is the case of an woman affected with the full spectrum of the pathology.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0060">Clinical case</span><p id="par0025" class="elsevierStylePara elsevierViewall">A 10-year-old female from China due to international adoption, with no known history, in assessment for visual difficulties and high hypermetropia with a history of resolved intermittent exotropia. On ophthalmological examination, BCVA 0.7 BE. Worth’s test: there is fusion. Stereopsis evaluated with TNO test: 60 s of arc. Cover near and far vision test: intermittent exophoria. Biomicroscopy was unaltered and the fundus examination revealed the presence of macular radial folds with alteration of the pigment epithelium. Ultra-wide field retinography (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>) and OCT were performed, showing a cystic appearance (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>). A multifocal electroretinogram (ERG) was requested, which was clearly pathological with a decrease in amplitudes at the central level of the macula in BE.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0030" class="elsevierStylePara elsevierViewall">A genetic study was also carried out where the variant c.644A>T (p.Glu215Gly) in the RS1 gene in homozygosis was identified in the germ line, classified as probably pathogenic, associated with retinoschisis (MIM 312700), with X-linked recessive mode of inheritance.</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0065">Discussion</span><p id="par0035" class="elsevierStylePara elsevierViewall">RLX has been described worldwide in people of all races. Being a rare condition, it is frequently underdiagnosed. The longest series of patients has been described in Finland where the prevalence of carrier status is 14 per 10,000 inhabitants.<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> Worldwide the figures vary between 1 per 5000 and 1 per 25,000 inhabitants.<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p><p id="par0040" class="elsevierStylePara elsevierViewall">There is a great variety in the severity of the disease among individuals with the same mutation, without correlation between the latter and the progression of the pathology. The age of onset shows a bimodal distribution with patients presenting in childhood with strabismus and nystagmus and others whose low vision problems and reading difficulties are only detected at school age.<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a> In this case the patient exhibits characteristics of both groups, exotropia on the one hand and visual difficulties on the other.</p><p id="par0045" class="elsevierStylePara elsevierViewall">Foveal schisis in cartwheel pattern with folds radiating from the fovea is the characteristic sign of the disease and is present in 98%–100% of cases. Peripheral retinoschisis is more frequent in the inferotemporal area and occurs in only about half of the patients.<a class="elsevierStyleCrossRefs" href="#bib0025"><span class="elsevierStyleSup">5,6</span></a></p><p id="par0050" class="elsevierStylePara elsevierViewall">For decades ERG was the diagnostic technique of choice for RLX, whose characteristic sign is a negative pattern with reduced b-wave amplitude.<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1,2,5</span></a> The origin of the dysfunction is an abnormality in the on-off pathways at the level of the bipolar cell.<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> OCT is currently the main diagnostic method although it is limited to the macular area.<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1,6</span></a></p><p id="par0055" class="elsevierStylePara elsevierViewall">To date, a total of 191 variants in the RS1 gene related to RLX have been reported, 81% of which are nucleotide substitutions.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> The disease has been described in a limited number of females, mainly in families with a high degree of consanguinity.<a class="elsevierStyleCrossRefs" href="#bib0015"><span class="elsevierStyleSup">3,7</span></a> Possible mechanisms that could cause involvement in females include uniparental isodisomy, non-random inactivation of X chromosomes, X monosomy and having both genes mutated.<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> The present patient has two copies of the altered gene; this genotype justifies her phenotype.</p><p id="par0060" class="elsevierStylePara elsevierViewall">Experimental therapies have described the use of carbonic anhydrase inhibitors such as topical dorzolamide,<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">8</span></a> intravitreal corticosteroids such as triamcinolone acetate, fluocinolone acetate and dexamethasone implants,<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> and more recently gene replacement therapies using intravitreal viral vectors,<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">9</span></a> all with variable results and used in extremely small populations.</p><p id="par0065" class="elsevierStylePara elsevierViewall">In conclusion, the patient described above is a rare case of RLX, being a female who fulfils the clinical and electrophysiological characteristics of the disease. Genetic study in these patients is extremely important to determine the mechanism by which the full expression of the disease occurs in order to provide appropriate genetic counselling.</p><p id="par0070" class="elsevierStylePara elsevierViewall">This research has not received specific support from public sector agencies, the commercial sector or non-profit organisations.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:8 [ 0 => array:3 [ "identificador" => "xres1813807" "titulo" => "Abstract" "secciones" => array:1 [ 0 => array:1 [ "identificador" => "abst1020" ] ] ] 1 => array:2 [ "identificador" => "xpalclavsec1583698" "titulo" => "Keywords" ] 2 => array:3 [ "identificador" => "xres1813808" "titulo" => "Resumen" "secciones" => array:1 [ 0 => array:1 [ "identificador" => "abst0020" ] ] ] 3 => array:2 [ "identificador" => "xpalclavsec1583699" "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:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2022-05-09" "fechaAceptado" => "2022-09-27" "PalabrasClave" => array:2 [ "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Keywords" "identificador" => "xpalclavsec1583698" "palabras" => array:2 [ 0 => "Retinoschisis" 1 => "Homozygosis" ] ] ] "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec1583699" "palabras" => array:2 [ 0 => "Retinosquisis" 1 => "Homocigosis" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "en" => array:2 [ "titulo" => "Abstract" "resumen" => "<span id="abst1020" class="elsevierStyleSection elsevierViewall"><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">X-linked retinoschisis (XLR) is a cause of retinal degeneration that affects males at an early age. X-linked disorders classically affect only males. We present the case of a 10-year-old female with the full spectrum of the pathology. BCVA 0.7 OU. Optical coherence tomography (OCT) showed bilateral foveal alteration with cystic appearance. The genetic study identified the variant c.644A>T (p.Glu215Gly) in the RS1 gene in homozygosis, associated with retinoschisis with X-linked recessive mode of inheritance. XLR is a condition that has a great variety in the severity of the disease and there is no correlation between the latter and the progression of the pathology. The disease has been described in a limited number of females mainly in families with high degree of consanguinity.</p></span>" ] "es" => array:2 [ "titulo" => "Resumen" "resumen" => "<span id="abst0020" class="elsevierStyleSection elsevierViewall"><p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">La retinosquisis ligada al cromosoma X (RLX) es una causa de degeneración retiniana que afecta a varones en edades tempranas. Los desórdenes ligados al cromosoma X clásicamente afectan sólo a varones. Presentamos el caso de una mujer de 10 años de edad, con el espectro completo de la patología. MAVC 0.7 AO. En la tomografía de coherencia óptica (TCO) presentaba alteración foveal bilateral de aspecto quístico. En el estudio genético se identifica la variante c.644A>T (p.Glu215Gly) en el gen RS1 en homocigosis, asociada a retinosquisis con modo de herencia recesiva ligada al X. La RXL es una condición que tiene una gran variedad en la severidad de la enfermedad y no existe correlación entre esta última y la progresión de la patología. La enfermedad ha sido descrita en un limitado número de mujeres principalmente en familias con alto grado de consanguinidad.</p></span>" ] ] "multimedia" => array:2 [ 0 => array:8 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 963 "Ancho" => 2341 "Tamanyo" => 188944 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0085" "detalle" => "Fig. " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Wide field photograph evidencing pigment alterations in the macular area.</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" => 2511 "Ancho" => 2508 "Tamanyo" => 618256 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0090" "detalle" => "Fig. " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">OCT of right eye (top) and LE (bottom)). Infrared image shows the “cartwheel pattern” and foveal schisis in the segmented image.</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" => "X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "R.S. Molday" 1 => "U. Kellner" 2 => "B.H.F. Weber" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1016/j.preteyeres.2011.12.002" "Revista" => array:6 [ "tituloSerie" => "Prog Retin Eye Res" "fecha" => "2012" "volumen" => "31" "paginaInicial" => "195" "paginaFinal" => "212" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/22245536" "web" => "Medline" ] ] ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0010" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "X-linked retinoschisis: a clinical and molecular genetic review" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:6 [ 0 => "A. Tantri" 1 => "T.R. Vrabec" 2 => "A. Cu-Unjieng" 3 => "A. Frost" 4 => "W.H. Annesley Jr." 5 => "L.A. Donoso" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1016/j.survophthal.2003.12.007" "Revista" => array:6 [ "tituloSerie" => "Surv Ophthalmol" "fecha" => "2004" "volumen" => "49" "paginaInicial" => "214" "paginaFinal" => "230" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/14998693" "web" => "Medline" ] ] ] ] ] ] ] ] 2 => array:3 [ "identificador" => "bib0015" "etiqueta" => "3" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "X-linked retinoschisis in three females from the same family: a phenotype-genotype correlation" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "F.J. Rodríguez" 1 => "A. Rodríguez" 2 => "R. Mendoza-Londoño" 3 => "M.L. Tamayo" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1097/00006982-200501000-00010" "Revista" => array:6 [ "tituloSerie" => "Retina" "fecha" => "2005" "volumen" => "25" "paginaInicial" => "69" "paginaFinal" => "74" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/15655444" "web" => "Medline" ] ] ] ] ] ] ] ] 3 => array:3 [ "identificador" => "bib0020" "etiqueta" => "4" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Juvenile X-linked retinoschisis responsive to intravitreal corticosteroids" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "W.H. Ansari" 1 => "A.W. Browne" 2 => "R.P. Singh" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1016/j.ajoc.2016.12.002" "Revista" => array:6 [ "tituloSerie" => "Am J Ophthalmol Case Rep" "fecha" => "2017" "volumen" => "5" "paginaInicial" => "48" "paginaFinal" => "51" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/29503947" "web" => "Medline" ] ] ] ] ] ] ] ] 4 => array:3 [ "identificador" => "bib0025" "etiqueta" => "5" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "X linked retinoschisis" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "N.D. George" 1 => "J.R. Yates" 2 => "A.T. Moore" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1136/bjo.79.7.697" "Revista" => array:6 [ "tituloSerie" => "Br J Ophthalmol" "fecha" => "1995" "volumen" => "79" "paginaInicial" => "697" "paginaFinal" => "702" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/7662639" "web" => "Medline" ] ] ] ] ] ] ] ] 5 => array:3 [ "identificador" => "bib0030" "etiqueta" => "6" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "X-linked retinoschisis: an update" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "S.K. Sikkink" 1 => "S. Biswas" 2 => "N.R.A. Parry" 3 => "P.E. Stanga" 4 => "D. Trump" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1136/jmg.2006.047340" "Revista" => array:6 [ "tituloSerie" => "J Med Genet" "fecha" => "2007" "volumen" => "44" "paginaInicial" => "225" "paginaFinal" => "232" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/17172462" "web" => "Medline" ] ] ] ] ] ] ] ] 6 => array:3 [ "identificador" => "bib0035" "etiqueta" => "7" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "X-linked retinoschisis in females in a consanguineous family: a rare entity" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "M. Önen" 1 => "K. Zor" 2 => "E. Küçük" 3 => "G. Yıldırım" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.4274/tjo.galenos.2020.42815" "Revista" => array:6 [ "tituloSerie" => "Turk J Ophthalmol" "fecha" => "2020" "volumen" => "50" "paginaInicial" => "252" "paginaFinal" => "254" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/32854471" "web" => "Medline" ] ] ] ] ] ] ] ] 7 => array:3 [ "identificador" => "bib0040" "etiqueta" => "8" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Use of dorzolamide for patients with X-linked retinoschisis" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "M.A. Apushkin" 1 => "G.A. Fishman" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1097/01.iae.0000237081.80600.51" "Revista" => array:6 [ "tituloSerie" => "Retina" "fecha" => "2006" "volumen" => "26" "paginaInicial" => "741" "paginaFinal" => "745" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/16963845" "web" => "Medline" ] ] ] ] ] ] ] ] 8 => array:3 [ "identificador" => "bib0045" "etiqueta" => "9" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Ocular and systemic safety of a recombinant AAV8 vector for X-linked retinoschisis gene therapy: GLP studies in rabbits and Rs1-KO mice" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "D. Marangoni" 1 => "R.A. Bush" 2 => "Y. Zeng" 3 => "L.L. Wei" 4 => "L. Ziccardi" 5 => "C. Vijayasarathy" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1038/mtm.2016.11" "Revista" => array:5 [ "tituloSerie" => "Mol Ther Methods Clin Dev" "fecha" => "2016" "volumen" => "5" "paginaInicial" => "16011" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/27626041" "web" => "Medline" ] ] ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/21735794/0000009700000012/v1_202212030745/S2173579422001530/v1_202212030745/en/main.assets" "Apartado" => array:4 [ "identificador" => "76120" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Shorts communications" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/21735794/0000009700000012/v1_202212030745/S2173579422001530/v1_202212030745/en/main.pdf?idApp=UINPBA00004N&text.app=https://www.elsevier.es/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2173579422001530?idApp=UINPBA00004N" ]
| Year/Month | Html | Total | |
|---|---|---|---|
| 2023 March | 2 | 1 | 3 |
