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

Area of Science:

• Ophthalmology
• Genetics
• Medical Research

Background:

• Macular neovascular membranes (MNV) are uncommon ocular conditions.
• Mutations in the MFRP gene are associated with various inherited retinal dystrophies.
• The link between MFRP mutations and MNV has not been previously established.

Purpose of the Study:

• To describe a novel manifestation of macular neovascular membrane (MNV) associated with MFRP gene mutation.
• To investigate the potential pathophysiological mechanisms of this rare condition.
• To report a previously undocumented clinical presentation of inherited retinal dystrophy.

Main Methods:

• A single case report was utilized for this study.
• The patient was evaluated at a tertiary care center in Brazil.
• Genetic testing was performed to identify mutations.

Main Results:

• A female patient with microphthalmos, retinal pigmentary alterations, and optic disc drusen was diagnosed with MNV and inherited retinal dystrophy.
• The patient had a history of misdiagnosis as Intracranial Idiopathic Hypertension (IIH).
• Genetic analysis revealed novel heterozygous MFRP gene mutations (c.498del p. Asn167Thrfs*25 and c.650G>A p. Gly217Glu).

Conclusions:

• Macular neovascular membrane (MNV) is a rare finding in patients with retinal dystrophies.
• This is the first report associating MNV with an MFRP gene mutation.
• Documenting this novel observation is vital for improving diagnosis, understanding pathophysiology, and guiding management of MFRP-related eye diseases.