MFRP GENE MUTATION: NOVEL MANIFESTATION AND INSIGHTS ON PATHOPHYSIOLOGY - A CASE REPORT.

Purpose: The aim of this study is to delineate a novel manifestation linked to the mutation of the MFRP gene: a macular neovascular membrane (MNV). The authors provide detailed insights into this rare condition, shedding light on a previously unreported observation and proposing potential pathophysiological mechanisms.

Methods: A single case report from a tertiary center in Brazil was conducted for evaluation.

Results: A female patient presenting with microphthalmos, retinal pigmentary alterations, and optic disc drusen, which had previously been misdiagnosed as Intracranial Idiopathic Hypertension (IIH), was diagnosed with MNV and inherited retinal dystrophy. Genetic testing confirmed the presence of an MFRP mutation, revealing novel manifestation of heterozygous gene mutations (c.498del p. Asn167Thrfs*25 and c.650G>A p. Gly217Glu).

Conclusion: MNV in the context of retinal dystrophies is a rare occurrence and has not been previously associated with an MFRP mutation. The documentation of this novel observation is crucial for enhancing our understanding of the potential disease presentations, aiding in diagnosis, elucidating the underlying pathophysiology, and guiding appropriate management strategies in such cases.