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Four patients with traumatic mydriasis and aphakia following blunt injury of the eye globe were evaluated. Patients with severe glare and photophobia due to wide pupil diameter from 6.0 to 9.0 mm were managed by combined iris cerclage pupilloplasty and retropupillar iris-claw lens implantation. The postoperative anatomic results, visual acuity, subjective degree of glare, photophobia, as well as intraoperative and postoperative complications were evaluated. The mean follow-up time was 32.6 months. Best-corrected visual acuity improved in all patients from preoperative 20/60, 20/30, 20/25, 20/22 to postoperative 20/20, 20/22, 20/20, and 20/20 (Snellen charts). All eyes achieved satisfactory anatomic result with round pupil diameter 3.5–4.5 mm. Glare and photophobia disappeared in all patients. There were no intraoperative or postoperative complications. During the follow-up period, pupils remained round and iris-claw lenses well positioned, without tilting. Combined iris cerclage pupilloplasty with retropupillar iris claw lens implantation appears to be a safe and effective surgical technique in reducing pupil size and improving visual outcomes. It is also a cost- and time-effective procedure, providing great results with a single surgery.

BackgroundWe present the disease course and long-term follow-up of two patients who were phenotypically diagnosed with atypical Leber Hereditary Optic Neuropathy (LHON) 14 and 12 years ago, respectively, whereby whole exome sequencing revealed recently described recessive DNAJC30:c.152G>A 152 A>G (p.Tyr51Cys) homozygous pathogenic variant with significant spontaneous visual acuity recovery in one.Case presentationTwo presented unrelated males with atypical LHON with sequential visual acuity (VA) loss were followed for many years. Both patients had negative family history. At the presentation at ages 17 (Case 1) and 18 years (Case 2), both had reduced visual acuity (Snellen): (Case 1) right eye (RE):CF 3m, left eye (LE):0.6, (Case 2) RE:0.2, LE:0.15; and color vision (Ishihara): (Case 1) 1/15 and 13/15; (Case 2) 2/15 and 3/15. Both had hyperemic optic disks (PNO) and central scotoma in their visual fields. Electrophysiology in the acute phase showed reduced and delayed visually evoked potentials (VEP) P100 in both patients, with reduced N95 amplitude in Case 2, and initially normal N95 amplitude in Case 1. Fluorescein angiography showed no early leakage with some late pooling at optic disks. Extensive clinical workout, including brain magnetic resonance imaging (MRI), aquaporin 4 (Aq4), and anti-myelin oligodendrocyte protein (anti-MOG) antibodies, was negative. Intravenous corticosteroids did not improve vision. Both experienced further deterioration several months after the onset accompanied by thinning of the peripapillary retinal nerve fiber layer (RNFL). Genetic testing for typical LHON pathogenic variants and whole mitochondrial DNA (mtDNA) sequencing was negative. 1 year after the onset, modest VA improvement began in Case 2 and continued over the next 3 years. VA improved bilaterally to 0.7, color vision 15/15, and islands of vision appeared within the visual field scotoma. VEP P100 peak time shortened, and amplitude increased, despite further RNFL thinning on optical coherent tomography (OCT). The patient's visual function remained stable during the entire 12-year follow-up period. Case 1 experienced modest VA improvement to 0.1 with some improvement in the visual field seven years after the disease onset, remaining stable during the entire 14-year follow-up period. VEP P100 wave remained undetectable.ConclusionsPresented are two autosomal recessive LHON (arLHON, OMIM:619382) cases with the same DNAJC30:c.152G>A pathogenic variant and different degrees of spontaneous visual recovery despite progressive RNFL thinning during a long-term follow-up. This mutation should be screened in every atypical LHON patient.

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