Spontaneous retinal reattachment and novel vitreoretinal phenotype in muscle eye brain disease determined by fundus multimodal imaging

Abstract

Introduction

Muscle eye brain disease (MEB) is a rare, multi-systemic autosomal recessively inherited disorder of relevance to ophthalmologists. The aim of this report is to describe a novel ocular phenotype for a genetically confirmed MEB patient using retinal multi-modal imaging.

Case description

We report a case of 18-year-old male patient that was referred to our tertiary unit for management of retinal detachment. Fundoscopic examination indicated optic nerve and macula hypoplasia, retinal hypo-pigmentation, and unilateral retinal detachment. There were no retinal breaks found in association with retinal detachment affecting the left eye. A well demarcated temporal pigmentary retinopathy with a ‘ghost’ retinal vessel in fundus autofluorescence image suggested spontaneous retinal reattachment of the retina in the right eye. Fundus autofluorescence and optical coherence tomography images revealed the novel features of internal limiting membrane disruption and sub-retinal opacity in association with neurosensory separation of the left retina, which is consistent with histopathology in the human eye and the mouse models of the disease.

Conclusions

Our case suggests that retinal detachment in MEB disease should be managed conservatively in the absence of retinal breaks as spontaneous reattachment can occur. Extensive areas of non-perfusion should be treated with laser photo-coagulation to avoid the sequelae of retinal neovascularization. The mechanism for the development of retinal detachment without breaks is unknown.