Case Report: Abnormal pupils caused by the mitochondrial MT-TL1 gene m.3243A>G mutation

The m.3243A>G mutation in the MT-TL1 gene is the most common mtDNA mutation. The mutation can lead to a spectrum of conditions, including diabetes, hearing loss, heart and muscle involvement, encephalopathy and epilepsy, gastrointestinal problems, and vision impairment, often occurring concurrently-collectively referred to as MELAS (mitochondrial encephalopathy lactic acidosis and stroke-like episodes) syndrome. Currently, it has been reported that the ocular manifestations of m.3243A>G include posterior subcapsular cataract, ptosis, extraocular muscle paralysis, and retinitis pigmentosa, among which retinitis pigmentosa is the most common ocular manifestation.

The ocular manifestations of a 10-month-old infant with mitochondrial MT-TL1 gene m.3243A>G mutation detected by genetic testing due to developmental delay were reported.

Ocular examination revealed Schiotz tonometry conversion values of 5.5/6 in the right eye (OD) and 5.5/4 in the left eye (OS) for intraocular pressure. Cycloplegic refraction measured +9.50 DS/-2.00 DC × 110° (OD) and +4.00 DS/-1.75 DC × 30° (OS). Anterior segment evaluation showed an irregular vertically oval pupil with absence of the temporal iris OD and a fusiform pupil OS, with no other anterior segment abnormalities detected in either eye. Fundus examination demonstrated clear optic disc boundaries bilaterally and a cup-to-disc (C/D) ratio of 0.3. Sodium fluorescein angiography revealed an intact retina without evidence of peripheral vascular leakage.

Iris defect in a infant caused by m.3243A>G mutation was reported, which complements the ocular signs of this mutation and provides a new aspect for eye screening.