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Ophthalmological findings in a female with classical Fabry disease
Hallazgos oftalmológicos en paciente mujer con enfermedad de Fabry clásica
Fernando López-Herrero, Bosco González-Jáuregui
, Magdalena Sotomayor-Toribio, José Luis Sánchez-Vicente
Corresponding author
Unidad de Gestión Clínica de Oftalmología, Hospital Universitario Virgen del Rocío, Sevilla, Spain
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Her father had been diagnosed with Fabry disease and passed away from heart failure.</p><p id="par0010" class="elsevierStylePara elsevierViewall">Her symptoms were compatible with Fabry disease due to hypohidrosis and neuropathic pain in her hands. A transthoracic echocardiogram revealed mild, concentric, left ventricular hypertrophy; grade-2 mitral regurgitation; and diastolic dysfunction.</p><p id="par0015" class="elsevierStylePara elsevierViewall">The following values were obtained in the corresponding determinations: α-galactosidase enzymatic activity 0.1 μmol/L/h (reference range: 2.1–14 μmol/L/h) and accumulation of Lyso-Gb3, with levels of 45.27 ng/mL (reference range: 0–1.4 ng/mL).</p><p id="par0020" class="elsevierStylePara elsevierViewall">An ophthalmologic examination showed a linear, subepithelial, corneal, vortex-shaped deposit in the anterior segment (cornea verticillata, <a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>A, white arrows), a conjunctival hemangioma (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>B, black arrow), and an incipient, peripheral, wedge-shaped cataract (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>C, white arrows). A funduscopy showed increased vascular tortuosity, with the second- and third-degree vessels forming a zig-zag pattern (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>D, asterisks).</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0025" class="elsevierStylePara elsevierViewall">Based on these findings, she was diagnosed with classic Fabry disease associated with a <span class="elsevierStyleItalic">GLA p.(Trp95*)</span> mutation, owing to which she started enzyme replacement therapy.</p><p id="par0030" class="elsevierStylePara elsevierViewall">Despite being much less frequent than in males, random inactivation of the X chromosome (lyonization phenomenon) can cause classic Fabry disease phenotypes in females.</p><p id="par0035" class="elsevierStylePara elsevierViewall">Because this entity is probably underdiagnosed, it is important to evaluate possible ophthalmologic signs or to perform familial screening in case of clinical suspicion.</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Funding</span><p id="par0040" class="elsevierStylePara elsevierViewall">The authors declare that they received no financial aid for the conduct of this work.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Conflicts of interest</span><p id="par0045" class="elsevierStylePara elsevierViewall">The authors declare no conflicts of interest.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:2 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Funding" ] 1 => array:2 [ "identificador" => "sec0010" "titulo" => "Conflicts of interest" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: López-Herrero F, González-Jáuregui B, Sotomayor-Toribio M, Sánchez-Vicente JL. Hallazgos oftalmológicos en paciente mujer con enfermedad de Fabry clásica. 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