Bilateral plaque like macular atrophy and pigmentary retinopathy in an infant with a missense mutation in the MFF gene.
Oğuzhan KılıçarslanBilge Batu OtoHüseyin YetikDeniz AğırbaşlıAysel Kalaycı YiğinGökhan ÇelikPublished in: Ophthalmic genetics (2023)
Maculopathy could be encountered in patients with MFF gene variation. Specific variants or some undiscovered genomic mutations may be the reason for this novel clinical appearance.