Bilateral plaque like macular atrophy and pigmentary retinopathy in an infant with a missense mutation in the MFF gene

Ophthalmic Genet. 2023 Mar 22:1-5. doi: 10.1080/13816810.2023.2189945. Online ahead of print.


PURPOSE: Ocular involvement has been shown in many of the primary mitochondrial diseases. Herein, we report a pediatric case of an extraordinary fundus appearance of bilateral plaque-like macular atrophy and hypopigmented flecks with homozygous MFF gene mutation.

METHODS: A case report.

RESULTS: An eighteen-month-old male infant presented with a lack of object tracking which was recognized in the last few months. Along with regression in normal development, myoclonic epilepsy signs and encephalomyelopathy were detected. Therefore, the patient was evaluated for mitochondrial diseases. Fundus examination revealed bilateral fine hypopigmented lesions in retinal pigment epithelium at midperiphery and periphery. Additionally, there was bilateral geographic atrophy that was separated from the adjacent normal retina with distinct borders in the fovea. Homozygous pT198A (c.592A>G) missense variation was detected in the MFF gene.

CONCLUSION: 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.

PMID:36946373 | DOI:10.1080/13816810.2023.2189945