Sjögren–Larsson syndrome: Optical coherence tomography and a novel mutation

Abstract

Case report

A case is presented of a 30-year-old male with ichthyosis, mental retardation, epilepsy and spasticity. Ocular examination showed a best-corrected visual acuity of 0.5 and bilateral crystalline maculopathy. Optical coherence tomography (OCT) revealed focal hyperreflective spots and intrafoveal microcystoid spaces. The diagnosis of Sjögren–Larsson syndrome (SLS) was made, and confirmed by genetic analysis.

Discussion

SLS is caused by mutations in the ALDH3A2 gene. A previously unreported novel mutation was identified, c. 681–14T > G. Macular OCT makes it possible to find even funduscopy invisible changes. Its use is important because the OCT features of SLS are specific and, therefore, it can help to diagnose this rare systemic disease.

Resumen

Caso clínico

Varón de 30 años con ictiosis, retraso intelectual, epilepsia y espasticidad. La exploración oftalmológica presenta agudeza visual corregida de 0,5 y maculopatía cristalina bilateral. La tomografía de coherencia óptica (OCT) muestra depósitos hiperrefringentes y pequeños quistes intrarretinianos foveales. Se diagnostica de síndrome de Sjögren-Larsson (SSL) y se confirma con el análisis genético.

Discusión

El SSL ocurre por mutaciones en el gen ALDH3A2. Se identifica una nueva mutación, la c.681-14T>G, no descrita previamente.

La OCT permite analizar la mácula y detectar cambios, incluso no visibles oftalmoscópicamente. Su empleo es importante, porque ofrece imágenes específicas del SSL y ayuda al diagnóstico de esta rara enfermedad sistémica.