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Vol. 96. Issue 12.
Pages 673-676 (December 2021)
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Vol. 96. Issue 12.
Pages 673-676 (December 2021)
Short communication
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
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S. Peñarrocha-Oltra
Corresponding author
Sonia.p.o@hotmail.com

Corresponding author.
, Á. Rallo-López, E. Escrivá-Pastor
Hospital Lluis Alcanyis, Xàtiva, Valencia, Spain
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Abstract

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.

Keywords:
Stargardt’s disease
Macular dystrophy
Optical coherence tomography
Resumen

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.

Palabras clave:
Enfermedad de Stargardt
Distrofia macular
Tomografía de coherencia óptica

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