MEMBRANE-TYPE FRIZZLED-RELATED PROTEIN GENE MUTATION: NOVEL MANIFESTATION AND INSIGHTS ON PATHOPHYSIOLOGY

The aim of this study is to delineate a novel manifestation linked to the mutation of the membrane-type frizzled-related protein gene: a macular neovascular membrane. The authors provide detailed insights into this rare condition, shedding light on a previously unreported observation and proposing potential pathophysiologic mechanisms.

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

A female patient presenting with microphthalmos, retinal pigmentary alterations, and optic disk drusen, which had previously been misdiagnosed as intracranial idiopathic hypertension, was diagnosed with macular neovascular membrane and inherited retinal dystrophy. Genetic testing confirmed the presence of a membrane-type frizzled-related protein mutation, revealing novel manifestation of heterozygous gene mutations (c.498del p. Asn167Thrfs*25 and c.650G>A p. Gly217Glu).

Macular neovascular membrane in the context of retinal dystrophies is a rare occurrence and has not been previously associated with a membrane-type frizzled-related protein 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.