ABSTRACT
BACKGROUND: The clinical characteristics of patients with polymerase gamma (POLG) mutation-associated optic neuropathy remain incompletely characterized. METHODS: We describe the clinical characteristics of 3 patients with POLG-associated optic neuropathy. We performed a literature review of optic neuropathy cases associated with POLG mutations and compared them with our cohort. RESULTS: Many published cases of POLG-associated optic neuropathy in our literature review lacked details regarding severity of vision loss, visual field defects, and optical coherence tomography analysis. The clinical presentation of POLG mutations remains widely variable in age (from pediatric cases to adults) and associated systemic findings. All patients in our literature review presented with systemic symptoms, most commonly muscle weakness, ptosis, and ophthalmoplegia, whereas many young patients had severe systemic symptoms. In our case series, all 3 cases had isolated optic neuropathy affecting the papillomacular bundle, with signs such as reduced visual acuity and color vision, central visual field defects, temporal retinal nerve fiber layer loss with temporal optic disc pallor, and retinal ganglion cell complex loss. In addition, 2 of the 3 cases had added mitochondrial stressors in addition to the POLG mutation. CONCLUSIONS: Clinicians should be aware that POLG mutations can present as isolated optic neuropathy primarily affecting the papillomacular bundle. With mitochondrial failure being the likely underlying pathogenic mechanism in POLG-associated optic neuropathy, helping affected patients eliminate mitochondrial stressors may be important in reducing the risk for progressive vision loss in this otherwise currently untreatable disorder.
ABSTRACT
PURPOSE: This study investigated how a conscious change in ocular accommodation affects intraocular pressure (IOP) and ocular biometrics in healthy adult volunteers of different ages. METHODS: Thirty-five healthy volunteers without ocular disease or past ocular surgery, and with refractive error between -3.50 and +2.50 diopters, were stratified into 20, 40, and 60 year old (y.o.) age groups. Baseline measurements of central cornea thickness, anterior chamber depth, anterior chamber angle, cornea diameter, pupil size, and ciliary muscle thickness were made by autorefraction and optical coherence tomography (OCT), while IOP was measured by pneumotonometry. Each subject's right eye focused on a target 40 cm away. Three different tests were performed in random order: (1) 10 minutes of nonaccommodation (gazing at the target through lenses that allowed clear vision without accommodating), (2) 10 minutes of accommodation (addition of a minus 3 diopter lens), and (3) 10 minutes of alternating between accommodation and nonaccommodation (1-minute intervals). IOP was measured immediately after each test. A 20-minute rest period was provided between tests. Data from 31 subjects were included in the study. ANOVA and paired t-tests were used for statistical analyses. RESULTS: Following alternating accommodation, IOP decreased by 0.7 mmHg in the right eye when all age groups were combined (p = 0.029). Accommodation or nonaccommodation alone did not decrease IOP. Compared to the 20 y.o. group, the 60 y.o. group had a thicker ciliary muscle within 75 µm of the scleral spur, a thinner ciliary muscle at 125-300 µm from the scleral spur, narrower anterior chamber angles, shallower anterior chambers, and smaller pupils during accommodation and nonaccommodation (p's < 0.01). CONCLUSION: Alternating accommodation, but not constant accommodation, significantly decreased IOP. This effect was not lost with aging despite physical changes to the aging eye. A greater accommodative workload and/or longer test period may improve the effect.
