Título

UNILATERAL STELLATE NONHEREDITARY IDIOPATHIC FOVEOMACULAR RETINOSCHISIS: A MULTIMODAL IMAGING ANALYSIS

Objetivo

To describe this rare condition through multimodal analysis

Métodos

Case report

Resultados

57-year-old female complaining of progressively poor visual quality in her left eye (OS). Unremarkable medical, family and ophthalmological history. On examination, she presented best corrected visual acuity equal to 20/25 in the right eye (OD) and 20/25 partial in the OS. Fundoscopy showed a radial stellate appearance of the macula. Multimodal analysis of the retina was undertaken which revealed findings consistent with macular foveoshisis in addition to extensive vitreomacular adhesion (VMA) in OS. According to a genetic panel for hereditary retinal diseases, which tests 330 genes, there was no positivity for a pathological gene for this entity, including the RS1 (retinoschisin) gene. It was concluded to be case of unilateral stellate nonhereditary idiopathic foveomacular retinoschisis (SNIFR) whose retinal multimodal analysis included broad line fundus imaging (BLFI) true color and red-free, wide-field fluorescein angiography (WF-AGF), and infrared reflectance followed by spectral-domain optical coherence tomography (SD-OCT) with segmentation for vitreoretinal interface, inner retina and choroid as well as infra-red reflectance imaging

Discussão e Conclusões

The diagnosis of SNIFR is appropriate after excluding other potential causes of a stellate foveal retinoschisis such as X-linked juvenile retinoschisis and other causes of retinal tractions as led in this case.
This is a rare case, with an atypical presentation including a broad VMA that may be related to the pathophysiology of this disease, once there is already reported cases of SNIFR spontaneous resolution after VMA release. As visual acuity is usually preserved in these cases, invasive intervention would rarely be warranted although surgical approach has already been conducted with favorable outcomes.
We aim to describe this rare entity with details and bring to light contributions to the discussion whether a correlation between SNIFR and VMA is possible.

Palavras Chave

retinoschisis, unilateral, stellate

Área

Clínica