Autosomal Dominant Vitreoretinocoroidopathy: A case report

Author: Marina Soto-Sierra (Spain)

Co-authors: María José Morillo-Sánchez, Nereida Bravo-Gil, Manuel Ramos-Jiménez, Enrique Rodríguez-de-la-Rúa

Purpose

To describe the clinical and genetic characteristics (mutation in BEST1 gene) of a Spanish patient with autosomal dominant vitreoretinocoroidopathy (ADVIRC).

Setting/Venue

Virgen Macarena University Hospital and Virgen del Rocío University Hospital. Seville (Spain).

Methods

The detailed ophthalmological examination included best corrected visual acuity (BCVA), colour and autofluorescence photography, fluorescein angiography, optical coherence tomography and electrophysiology tests. A next-generation sequencing (NGS) strategy was applied to the index patient, and then sequenced in an Illumina NextSeq500 system.

Results

A 74-year-old woman presented with a BCVA of 20/120 in both eyes. Fundoscopy revealed pale optic discs, attenuated vessels, vitreous condensations and a peripheral band of hyperpigmentation well limited with the posterior pole. Fundus autofluorescence showed an hipofluorescent peripheral band which respected posterior pole. Electrooculogram (EOG) showed an altered Arden Index, 1.71 in right eye and 1.37 in left eye, and the electroretinogram (ERG) denoted extensive damage in photopic and scotopic responses. A heterozygous frameshift mutation in BEST1 (c. 1241>T) was identified as the cause of the disease.

Conlusions

ADVIRC is a rare genetic disease that leads to irreversible visual loss. Fundoscopy manifestations are very characteristic and can lead to a suspicion diagnosis although genetic sequencing is needed for confirmation.

Financial Disclosure

None