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To evaluate whether an impaired anterior visual pathway (retinal structures with microvasculature) is associated with underlying beta-amyloid (Aβ) pathologies in patients with Alzheimer’s disease dementia (ADD) and mild cognitive impairment (MCI), we compared retinal structural and vascular factors in each subgroup with positive or negative amyloid biomarkers. Twenty-seven patients with dementia, thirty-five with MCI, and nine with cognitively unimpaired (CU) controls were consecutively recruited. All participants were divided into positive Aβ (A+) or negative Aβ (A−) pathology based on amyloid positron emission tomography or cerebrospinal fluid Aβ. The retinal circumpapillary retinal nerve fiber layer thickness (cpRNFLT), macular ganglion cell/inner plexiform layer thickness (mGC/IPLT), and microcirculation of the macular superficial capillary plexus were measured using optical coherence tomography (OCT) and OCT angiography. One eye of each participant was included in the analysis. Retinal structural and vascular factors significantly decreased in the following order: dementia < MCI < CU controls. The A+ group had significantly lower microcirculation in the para- and peri-foveal temporal regions than did the A−. However, the structural and vascular parameters did not differ between the A+ and A− with dementia. The cpRNFLT was unexpectedly greater in the A+ than in the A− with MCI. mGC/IPLT was lower in the A+ CU than in the A− CU. Our findings suggest that retinal structural changes may occur in the preclinical and early stages of dementia but are not highly specific to AD pathophysiology. In contrast, decreased temporal macula microcirculation may be used as a biomarker for the underlying Aβ pathology.

AIM: To report the first discovery of Ser341Pro myocilin (MYOC) variant in Korea and analyze its clinical characteristics and genetic significance. METHODS: Ten family members from three generations participated in this study and received the thorough ophthalmologic examination. Focused exome sequencing on a proband was performed to confirm the target mutations (MYOC c.1021T>C) in the family members, and the direct sequencing was conducted. Variant was analyzed according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) guidelines. RESULTS: A nucleotide change from thymine to cytosine at c.1021T>C was found in eight family members. Three members diagnosed with primary open angle glaucoma (POAG) were characterized by severe clinical presentations, high intraocular pressure, and poor response to medical treatment (100% of the patient required filtering surgery). On variant analysis by ACMG/AMP guidelines, Ser341Pro is not found in normal population. Multiple computational predictive programs support a deleterious effect of Ser341Pro variant (PolyPhen 2, SIFT, Mutation Taster). Ser341Pro could be involved in moderate (PM) and supporting (PP) criteria (PM1, PM2, PP2, PP3). Combining the criteria, Ser341Pro has a combination of 2 moderate (PM1+PM2) and 2 supporting (PP2+PP3) criteria, which is interpreted to “likely pathogenic”. CONCLUSION: The Ser341Pro variant is correlated with severe phenotype of POAG. There are similar clinical aspects to previous studies: autosomal dominant inheritance, incomplete penetrance (62.50% and 66.67%), and proportion of patients requiring trabeculectomy (100% in both study). According to ACMG/AMP guidelines and the previous basic researches, the Ser341Pro variant had a “strong evidence of pathogenicity (PS3)” and then it could be interpreted to “pathogenic (PS3, PM1, PM2, PP2, PP3)”. Additionally, Ser341Pro variant can be reported as “c.1021T>C (p.Ser341Pro), likely pathogenic, POAG, autosomal dominant” according to guideline.

Purpose. The aim is to evaluate the effect of amniotic membrane transplantation (AMT) on trabeculectomy with mitomycin C in patients with pseudoexfoliation glaucoma (PXG). Methods. This retrospective cohort study included 85 eyes of PXG who underwent trabeculectomy with or without AMT (52/33 eyes in the AMT/control group). Surgical success was defined by these criteria: (1) intraocular pressure (IOP) ≤18 mmHg and IOP reduction ≥ 20% and (2) IOP ≤15 mmHg and IOP reduction ≥ 25%. Criteria A and B defined complete success rates as patients who met these criteria without medication, respectively. Criteria C and D defined qualified success rates as patients who met these criteria with medication, respectively. Cumulative probabilities of success were compared using the Kaplan–Meier survival analysis. Cox proportional hazard models were used to evaluate the influence of AMT on surgical success accounting for confounding variables. Results. For the AMT group, compared with the control group, the complete success rates at 12 months for criterion A were 86.5% and 63.6%, respectively ( P = 0.017 ) and for criterion B, 86.4% and 63.6% ( P = 0.005 ). The qualified success rates at 12 months for criterion C were 92.1% and 75.1%, respectively ( P = 0.047 ) and for criterion D, 92.1% and 72.1% ( P = 0.021 ). On multivariable Cox regression analyses, AMT was associated with a lower failure rate on criteria A, B, and D (all P ≤ 0.047 ). Incidence of avascular bleb was higher in the control group than in the AMT group (7 vs 0 eyes; P = 0.004 ). Conclusions. In patients with PXG, trabeculectomy with AMT was associated with higher success rates and a lower incidence of avascular bleb compared with conventional trabeculectomy. Research Registration. This retrospective cohort study was registered at the Clinical Trial Registry of Korea (https://cris.nih.go.kr/cris/index/index.do, KCT0007228).

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