John H. Fingert

Optical Coherence Tomography Analysis Based Prediction of Humphrey 24-2 Visual Field Thresholds in Patients With Glaucoma.

The proposed RGC-AC optimized predictive algorithm based on 9-field OCT image analysis and the RGC-AC concept is superior to previous methods and its performance is close to the reproducibility of HVF 24-2.

Glaucoma Risk Alleles in the Ocular Hypertension Treatment Study.

The size of the OHTS cohort and its composition of 2 large racial subgroups may limit its power to detect some glaucoma risk factors.

Association of a Primary Open-Angle Glaucoma Genetic Risk Score With Earlier Age at Diagnosis.

A higher dose of POAG risk alleles was associated with an earlier age at glaucoma diagnosis.

Familial normal tension glaucoma genetics.

Common features of OPTN -associated NTG due to Glu50Lys mutation included early onset of disease with an IOP <21 mm Hg, marked optic disc cupping, and progressive visual field loss which appeared to stabilize once an IOP of less than 10 mm Hg was achieved.

Myocilin Mutations in Patients With Normal-Tension Glaucoma.

In cohorts 1 and 2, the p.Gln368Ter mutation in MYOC was found in patients with IOPs that were 21 mm Hg or lower (NTG), although at a frequency that is lower than previously detected in patients with higher IOP.

Genetic Correlations Between Diabetes and Glaucoma: An Analysis of Continuous and Dichotomous Phenotypes.

These analyses suggest that there is limited genetic correlation between diabetes- and glaucoma-related traits.

The Heritability of Pigment Dispersion Syndrome and Pigmentary Glaucoma.

Most of the cases of PDS in our study were sporadic, and the risk to first-degree relatives is lower than previously reported.

Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets.

Collectively, testosterone metabolism pathway SNPs were consistently associated with the high-tension subtype of POAG in two datasets.

Diffusion Tensor Imaging of Visual Pathway Abnormalities in Five Glaucoma Animal Models.

Chronic IOP elevation was accompanied by decreased fractional anisotropy and increased radial diffusivity along the optic nerve or optic tract, suggestive of disrupted microstructural integrity in both inducible and genetic glaucoma animal models.

Update on Animal Models of Exfoliation Syndrome.

One strain of mice, B6-Lyst, has several key features of human XFS, including ocular production of exfoliation-like material, and stereotypical iris abnormalities.

Histochemical Analysis of Glaucoma Caused by a Myocilin Mutation in a Human Donor Eye.

This is the first histopathological analysis of an eye from a glaucoma patient with amutation.

GJA3 Genetic Variation and Autosomal Dominant Congenital Cataracts and Glaucoma Following Cataract Surgery.

The GJA3 genetic variant, p.Asp67Tyr, was identified in a 4-generation congenital cataract pedigree from Iowa.

Gonioscopy-Assisted Transluminal Trabeculotomy for Myocilin Juvenile Glaucoma.

Penetrance of Myocilin Mutations-Who Gets Glaucoma?

Genomic Organization of TBK1 Copy Number Variations in Glaucoma Patients.

No specific mutation hotspots for TBK1 CNVs were detected, however, interspersed repetitive sequences (ie, Alu elements) were identified at the borders of TBK1 CNVs, which suggest that mismatch of these elements during meiosis may be…

Prevalence of Open-angle Glaucoma in the Faroese Population.

The calculated prevalence of OAG in the Faroe Islands was 1.07%.

Primary Open-Angle Glaucoma Polygenic Risk Score and Risk of Disease Onset: A Post Hoc Analysis of a Randomized Clinical Trial.

These findings support considering use of a POAG PRS threshold to identify individuals at low risk of disease onset, with those below the PRS threshold more likely to have lower conversion rates over 20 years.

Familial Glaucoma-A Pedigree Revisited With Genetic Testing After 70 Years.

Gonioscopy-Assisted Transluminal Trabeculotomy for Myocilin-Associated Juvenile Open-Angle Glaucoma: A Case Series of 8 Eyes Over 2.2 to 4.1 Years.

In MYOC-associated JOAG, the pathology is concentrated at the trabecular meshwork (TM), lending itself well to angle-based surgeries, especially GATT.

Mutations in EFEMP1 in Patients with Juvenile Open-Angle Glaucoma.

Aqueous Misdirection After Trabeculectomy in a Down Syndrome Patient With Angle-closure Glaucoma.

Patients with Down syndrome often have small, hyperopic eyes with narrow iridocorneal angles and may be at increased risk for aqueous misdirection associated with surgical procedures.

Long-Term Follow-Up of Normal Tension Glaucoma Patients With TBK1 Gene Mutations in One Large Pedigree.

We provide the first report of the clinical features and long-term clinical course in a family of NTG patients with TBK1 gene duplications.

METTL23 Variants and Patients With Normal-Tension Glaucoma.

This investigation provides evidence that pathogenic variants in METTL23 are associated with NTG.

The Effect of Insurance Coverage Laws on Glaucoma Eyedrop Medication Usage.

High Iris Insertion in Axenfeld-Rieger Syndrome.

Progressive optic disc cupping over 20 years in a patient with-associated glaucoma.

Long-Term Follow-Up on a Juvenile Open-Angle Glaucoma Pedigree with a Novel EFEMP1 Mutation (c.1313, p.Tyr438Cys).

This study identifies a novel mutation, p.Tyr438Cys, as the first known glaucoma-causing EFEMP1 mutation in a JOAG pedigree of European ancestry.

A Multitrait Polygenic Risk Score for Open-Angle Glaucoma Stratifies Risk of Pigmentary Glaucoma in Pigment Dispersion Syndrome.

A multitrait PRS for open-angle glaucoma stratifies risk of glaucoma onset and disease severity among individuals with PDS.

Prevalence of Myocilin Mutations in a Cohort of Patients with Juvenile Open-Angle Glaucoma from sub-Saharan Africa.

Myocilin mutations are the most common known cause of JOAG in populations of European ancestry.

Thrombospondin Mutations and Patients With Primary Congenital Glaucoma in a United States Population.

However, none of these variants were judged to be disease-causing mutations based on: 1) prevalence in cases and controls from Iowa, 2) prevalence in the public database gnomAD, 3) mutation analysis algorithms, and 4) THBS1 DNA sequence conservation.

Exfoliation syndrome: assembling the puzzle pieces.

Meeting participants concluded that it is unclear how the mild homocysteinemia seen in XFS might contribute to the disarrayed extracellular aggregates characteristic of this syndrome.

A Common Variant in MIR182 Is Associated With Primary Open-Angle Glaucoma in the NEIGHBORHOOD Consortium.

Our integrative study is the first to associate rs76481776 with POAG via elevated miR-182 expression.

The Utility of Diaton Tonometer Measurements in Patients With Ocular Hypertension, Glaucoma, and Glaucoma Tube Shunts: A Preliminary Study for its Potential Use in Keratoprosthesis Patients.

Diaton tonometry has a large margin of error compared with GAT in patients with ocular hypertension, glaucoma, and glaucoma tube shunts.

Stereo Photo Measured ONH Shape Predicts Development of POAG in Subjects With Ocular Hypertension.

Methods for identifying objective, quantitative measurements of 3D ONH structure were developed using a large dataset.

Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma.

We report the presence of TBK1 copy number variations in our Australian normal-tension glaucoma cohort, including the first example of more than 1 extra copy of this gene in glaucoma patients (gene triplication).