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Unilateral retinitis pigmentosa. A case report
Retinitis pigmentosa unilateral a propósito de un caso
C. Nazar
, M. Feldman, R. González, R. Espinoza
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Departamento de Oftalmología, Pontificia Universidad Católica de Chile, Santiago, Chile
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A case report" "tieneTextoCompleto" => true "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "287" "paginaFinal" => "290" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "C. Nazar, M. Feldman, R. González, R. Espinoza" "autores" => array:4 [ 0 => array:4 [ "nombre" => "C." "apellidos" => "Nazar" "email" => array:1 [ 0 => "canazar@uc.cl" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:2 [ "nombre" => "M." "apellidos" => "Feldman" ] 2 => array:2 [ "nombre" => "R." "apellidos" => "González" ] 3 => array:2 [ "nombre" => "R." "apellidos" => "Espinoza" ] ] "afiliaciones" => array:1 [ 0 => array:2 [ "entidad" => "Departamento de Oftalmología, Pontificia Universidad Católica de Chile, Santiago, Chile" "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" => "Retinitis pigmentosa unilateral a propósito de un caso" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0010" "etiqueta" => "Fig. 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 530 "Ancho" => 1447 "Tamanyo" => 121785 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">(a) Lefts eye fundus, and (b) left eye angiography within normal limits.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0045">Introduction</span><p id="par0005" class="elsevierStylePara elsevierViewall">Retinitis pigmentosa (RP) is the most frequent retinal dystrophy, characterized by being hereditary, causing progressive dysfunction and loss of cells, first compromising rods and then cones. RP is also known as rod–cone dystrophy.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">1</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">Generally, RPE expresses bilaterally within the first three decades of life and is characterized by nyctalopia and progressive loss of peripheral visual field. In the early stages, central vision is preserved although it deteriorates with the progressive loss of photoreceptors and for this reason it is diagnosed in more advanced stages. RP is associated to cystoid macular edema (20% of cases) and posterior subcapsular cataracts (50% of cases).<a class="elsevierStyleCrossRefs" href="#bib0040"><span class="elsevierStyleSup">1,2</span></a></p><p id="par0015" class="elsevierStylePara elsevierViewall">Ocular fundus examinations reveal pigment changes known as bone spicules due to their shape, a typical characteristic of the disease. Additional signs include optic nerve paleness, retina pigment epithelium atrophy and vascular attenuation.<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">2,3</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">RP may express sporadically or follow a hereditary pattern with genetic heterogeneity. Its inheritance mechanism can be autosomal dominant (30–40% of cases), autosomal recessive (50–60%) or X-linked (5–15%).<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">4,5</span></a></p><p id="par0025" class="elsevierStylePara elsevierViewall">In RP, alterations are usually limited to the eyes. However, extraocular involvement has been described in the context of some syndromes, approximately 20–30% of cases.<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">2,6</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">The therapeutic options are limited. Vitamin A supplementation in diet has been proposed, although its role is controversial.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">2</span></a></p><p id="par0035" class="elsevierStylePara elsevierViewall">A clinic case of a patient with unilateral RP is described below.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0050">Clinic case report</span><p id="par0040" class="elsevierStylePara elsevierViewall">Female, 27, with a history of nyctalopia and right eye (RE) visual field constriction of 2 years evolution was admitted. No history of traumatism or other ophthalmological events, use of medicaments, systemic, pneumatic or vasculitic diseases or familial antecedents.</p><p id="par0045" class="elsevierStylePara elsevierViewall">Ophthalmological examination showed a visual acuity of 20/20 in both eyes, preserved color vision and RE relative afferent pupillary defect. Biomicroscopy revealed poorly vitreous pigments in the RE, while funduscopy showed a paler right papilla with generalized attenuation of vasculature and bone-shaped pigment in the periphery with perifoveal macular atrophy (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>). Left eye (LE) biomicroscopy and funduscopy were normal (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>).</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0050" class="elsevierStylePara elsevierViewall">The patient was evaluated with a range of examinations, i.e., computerized visual field that showed a tubular field in the RE, being normal in the LE (<a class="elsevierStyleCrossRef" href="#fig0015">Fig. 3</a>). RE autofluorescence evidenced increased fluorescence at the parafoveal level (<a class="elsevierStyleCrossRef" href="#fig0020">Fig. 4</a>). In addition, OCT showed increased granular hyper-reflectiveness, collapse of nuclear layers, particularly the internal one, generalized retinal thickness thinning and increased internal limiting membrane signal (<a class="elsevierStyleCrossRef" href="#fig0025">Fig. 5</a>). Standard and multifocal electroretinogram (ERG) did not show response of rods or cones in the RE. However, these were normal in the LE (<a class="elsevierStyleCrossRef" href="#fig0030">Fig. 6</a>).</p><elsevierMultimedia ident="fig0015"></elsevierMultimedia><elsevierMultimedia ident="fig0020"></elsevierMultimedia><elsevierMultimedia ident="fig0025"></elsevierMultimedia><elsevierMultimedia ident="fig0030"></elsevierMultimedia><p id="par0055" class="elsevierStylePara elsevierViewall">Other causes such as syphilis, rubeola, toxoplasmosis, diffuse unilateral subacute neuroretinitis and self immune diseases were discarded. At one year follow-up, unilateral involvement persisted.</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0055">Discussion</span><p id="par0060" class="elsevierStylePara elsevierViewall">Unilateral RP is a rare condition first described in 1865, with a frequency between 0.2 and 5% of RP<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">6</span></a>. About 70% of described cases are females in more advanced ages than bilateral RP, in the area of 30 years of age, probably because they visit at a later stage due to adequate unilateral vision.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">1</span></a> Overall, the approximately 70 cases published since the 19th century did not report bilateralization during follow-up, with one reported case reaching 30 years.<a class="elsevierStyleCrossRefs" href="#bib0050"><span class="elsevierStyleSup">3,7</span></a> Only 2 cases had familial RP antecedents, mostly sporadic as in the present case. Genetic studies were the exception in reported cases as only 6 has been studied, only two of which were positive, with autosomal dominant mutations for RP.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">1</span></a></p><p id="par0065" class="elsevierStylePara elsevierViewall">A definitive diagnostic must include a unilateral altered eye fundus, with unilateral altered ERG examination showing reduction in amplitude and delay in rods and cones response.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">1</span></a> Autofluorescence should also be taken into account as it can exhibit areas with high fluorescence generated by higher concentration of lipofuscin at the retina pigment epithelium. In turn, these regions produce lower response amplitudes when measured with multifocal ERG.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">2</span></a></p><p id="par0070" class="elsevierStylePara elsevierViewall">Finally, infectious, inflammatory and vascular causes should be excluded.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">1</span></a></p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0060">Funding</span><p id="par0075" class="elsevierStylePara elsevierViewall">The authors state that they have not received funding for this study.</p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0065">Conflict of interests</span><p id="par0080" 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" => "xres845232" "titulo" => "Abstract" "secciones" => array:2 [ 0 => array:2 [ "identificador" => "abst0005" "titulo" => "Clinical case" ] 1 => array:2 [ "identificador" => "abst0010" "titulo" => "Discussion" ] ] ] 1 => array:2 [ "identificador" => "xpalclavsec840113" "titulo" => "Keywords" ] 2 => array:3 [ "identificador" => "xres845231" "titulo" => "Resumen" "secciones" => array:2 [ 0 => array:2 [ "identificador" => "abst0015" "titulo" => "Caso clínico" ] 1 => array:2 [ "identificador" => "abst0020" "titulo" => "Discusión" ] ] ] 3 => array:2 [ "identificador" => "xpalclavsec840114" "titulo" => "Palabras clave" ] 4 => array:2 [ "identificador" => "sec0005" "titulo" => "Introduction" ] 5 => array:2 [ "identificador" => "sec0010" "titulo" => "Clinic case report" ] 6 => array:2 [ "identificador" => "sec0015" "titulo" => "Discussion" ] 7 => array:2 [ "identificador" => "sec0020" "titulo" => "Funding" ] 8 => array:2 [ "identificador" => "sec0025" "titulo" => "Conflict of interests" ] 9 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2016-06-01" "fechaAceptado" => "2016-09-16" "PalabrasClave" => array:2 [ "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Keywords" "identificador" => "xpalclavsec840113" "palabras" => array:5 [ 0 => "Retinitis pigmentosa" 1 => "Unilateral retinitis pigmentosa" 2 => "Retinal dystrophy" 3 => "Rod–cone dystrophy" 4 => "Nyctalopia" ] ] ] "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec840114" "palabras" => array:5 [ 0 => "Retinitis pigmentosa" 1 => "Retinitis pigmentosa unilateral" 2 => "Distrofia retiniana" 3 => "Distrofia bastón-cono" 4 => "Nictalopía" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "en" => array:3 [ "titulo" => "Abstract" "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Clinical case</span><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">A 27-year-old woman with a history of nyctalopia and constriction of visual field of the right eye. The ophthalmological examination showed a visual field and electroretinogram that were compatible with unilateral retinitis pigmentosa (RP). After a one year follow-up, the unilateral condition remained.</p></span> <span id="abst0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Discussion</span><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Unilateral retinitis pigmentosa is a rare condition, with a frequency between 0.2% and 5% of the RP. It mainly affects women and older age groups than bilateral RP. For a definitive diagnosis, it is necessary to have a funduscopy and electroretinogram (ERG) altered unilaterally, and exclude infectious, inflammatory, and vascular causes.</p></span>" "secciones" => array:2 [ 0 => array:2 [ "identificador" => "abst0005" "titulo" => "Clinical case" ] 1 => array:2 [ "identificador" => "abst0010" "titulo" => "Discussion" ] ] ] "es" => array:3 [ "titulo" => "Resumen" "resumen" => "<span id="abst0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Caso clínico</span><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Mujer de 27 años con historia de nictalopía y constricción de campo visual del ojo derecho. El examen oftalmológico, campo visual y electrorretinograma (ERG) fueron compatibles con una retinitis pigmentosa (RP) unilateral. Al seguimiento de un año, permanecía la afección unilateral.</p></span> <span id="abst0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Discusión</span><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">La RP unilateral es un trastorno infrecuente, con una frecuencia entre el 0,2-5% de las RP. Afecta principalmente a mujeres, y en edades más avanzadas que las bilaterales. Para dar un diagnóstico definitivo tiene que haber un fondo de ojo y ERG alterados unilateralmente, y excluir causas infecciosas, inflamatorias y vasculares.</p></span>" "secciones" => array:2 [ 0 => array:2 [ "identificador" => "abst0015" "titulo" => "Caso clínico" ] 1 => array:2 [ "identificador" => "abst0020" "titulo" => "Discusión" ] ] ] ] "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Nazar C, Feldman M, González R, Espinoza R. Retinitis pigmentosa unilateral a propósito de un caso. Arch Soc Esp Oftalmol. 2017;92:287–290.</p>" ] ] "multimedia" => array:6 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 556 "Ancho" => 1447 "Tamanyo" => 142476 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">(a) Right eye fundus, showing the optic nerve paleness, vascular attenuation and osteous pigment; (b) right eye angiography in 3–4<span class="elsevierStyleHsp" style=""></span>min, showing window-type defects up to the periphery.</p>" ] ] 1 => array:7 [ "identificador" => "fig0010" "etiqueta" => "Fig. 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 530 "Ancho" => 1447 "Tamanyo" => 121785 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">(a) Lefts eye fundus, and (b) left eye angiography within normal limits.</p>" ] ] 2 => array:7 [ "identificador" => "fig0015" "etiqueta" => "Fig. 3" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr3.jpeg" "Alto" => 698 "Ancho" => 1447 "Tamanyo" => 133743 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">SITA-Standard 24-2 visual field in grayscale: (a) right eye, showing tubular field, and (b) left eye normal.</p>" ] ] 3 => array:7 [ "identificador" => "fig0020" "etiqueta" => "Fig. 4" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr4.jpeg" "Alto" => 727 "Ancho" => 1447 "Tamanyo" => 137335 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0040" class="elsevierStyleSimplePara elsevierViewall">Autofluorescence: (a) right eye, showing parafoveal hyper-autofluorescence ring defining the limits of the photoreceptor loss, and (b) left eye normal.</p>" ] ] 4 => array:7 [ "identificador" => "fig0025" "etiqueta" => "Fig. 5" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr5.jpeg" "Alto" => 979 "Ancho" => 1447 "Tamanyo" => 150113 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0045" class="elsevierStyleSimplePara elsevierViewall">Spectralis® OCT macular (Heidelberg Engineering, Franklin, MA, USA): (a) right eye, showing atrophy of photoreceptor external segments and generalized thinning of retinal thickness, and (b) left eye normal.</p>" ] ] 5 => array:7 [ "identificador" => "fig0030" "etiqueta" => "Fig. 6" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr6.jpeg" "Alto" => 972 "Ancho" => 3237 "Tamanyo" => 130339 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0050" class="elsevierStyleSimplePara elsevierViewall">Full field electroretinogram: (a) Right eye under scotopic conditions, does not produce rods response or maximum response. 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