The primary open-angle african american glaucoma genetics study: baseline demographics.

PURPOSE: To describe the baseline characteristics of the Primary Open-Angle African American Glaucoma Genetics (POAAGG) study cohort, the largest African American population with primary open-angle glaucoma (POAG) recruited at a single institution (University of Pennsylvania [UPenn], Department of Ophthalmology, Scheie Eye Institute) to date. DESIGN: Population-based, cross-sectional, case-control study. PARTICIPANTS: A total of 2520 African American subjects aged 35 years or more who were recruited from the greater Philadelphia, Pennsylvania area. METHODS: Each subject underwent a detailed interview and eye examination. The interview assessed demographic, behavioral, medical, and ocular risk factors. Current ZIP codes surrounding UPenn were recorded and US census data were queried to infer socioeconomic status. The eye examination included measurement of visual acuity (VA) and intraocular pressure, and a detailed anterior and posterior segment examination, including gonioscopy, dilated fundus and optic disc examination, visual fields, stereo disc photography, optical coherence tomography, and measurement of central corneal thickness. MAIN OUTCOME MEASURES: The baseline characteristics of gender, age, and glaucoma diagnosis were collected. Body mass index (BMI), hypertension, diabetes, alcohol and tobacco use, ocular conditions (including blindness, cataract, nonproliferative diabetic retinopathy, and age-related macular degeneration), and use of ocular medication and surgery were examined. Median population density, income, education level, and other socioeconomic measures were determined for the study cohort. RESULTS: Of the 2520 African Americans recruited to the POAAGG study to date, 2067 (82.0%), including 807 controls and 1260 POAG cases, met all inclusion criteria and completed the detailed clinical ocular examination. Cases were more likely to have a lower BMI (P < 0.01) and report a history of blindness (VA of ≤20/200; P < 0.001), whereas controls were more likely to have diabetes (P < 0.001), have nonproliferative diabetic retinopathy (P = 0.02), and be female (P < 0.001). Study participants were drawn largely from predominantly African American neighborhoods of low income, high unemployment, and lower education surrounding UPenn. CONCLUSIONS: The POAAGG study has currently recruited more than 2000 African Americans eligible for a POAG genetics study. Blindness and low BMI were significantly associated with POAG. This population was predominantly recruited from neighborhoods whose population income exists at or near the federal poverty level.

Family History in the Primary Open-Angle African American Glaucoma Genetics Study Cohort.

PURPOSE: To determine the relationship between positive family history (FH) and primary open-angle glaucoma (POAG) diagnosis and clinical presentation in the Primary Open-Angle African American Glaucoma Genetics (POAAGG) cohort. METHODS: FH of POAG in first-degree relatives was assessed in 2365 subjects in the POAAGG cohort. A standardized interview was used to assess FH of glaucoma, demographic characteristics, lifestyle choices, and medical and ocular comorbidities. RESULTS: Positive FH was associated with increased risk of POAG (age-adjusted odds ratio and 95% confidence interval 3.4 [2.8, 4.1]). In age-adjusted analysis among POAG cases, positive FH was associated with younger age (P < .001), female sex (P < .001), hypertension (P = .006), use of hypertension medication (P = .03), and prior glaucoma surgery (P = .02). Cases with positive FH also had thicker retinal nerve fiber layers (P = .03). CONCLUSIONS: The risk conferred by positive FH suggests strong genetic underpinnings for some patients with this disease, which will be investigated by genome-wide association studies and whole exome sequencing. NOTE: Publication of this article is sponsored by the American Ophthalmological Society.

Risk Factors Associated with Progression to Blindness from Primary Open-Angle Glaucoma in an African-American Population.

PURPOSE: To determine the risk factors associated with progression to blindness from primary open-angle glaucoma (POAG) in an African-American population. METHODS: This study examined 2119 patients enrolled in the Primary Open-Angle African-American Glaucoma Genetics (POAAGG) study. A total of 59 eyes were identified as legally blind as a result of POAG (cases) and were age-and sex-matched to 59 non-blind eyes with glaucoma (controls). Chart reviews were performed to record known and suspected risk factors. RESULTS: Cases were diagnosed with POAG at an earlier age than controls (p = 0.005). Of the 59 eyes of cases, 16 eyes (27.1%) presented with blindness at diagnosis. Cases had worse visual acuity (VA) at diagnosis (p < 0.0001), with VA worse than 20/40 conferring a 27 times higher risk of progression to blindness (p = 0.0005). Blind eyes also demonstrated more visual field defects (p = 0.01), higher pre-treatment intraocular pressure (IOP; p < 0.0001), and higher cup-to-disc ratio (p = 0.006) at diagnosis. IOP was less controlled in cases, and those with IOP ≥21 mmHg at more than 20% of follow-up visits were 73 times more likely to become blind (p < 0.0001). Cases missed a greater number of appointments per year (p = 0.003) and had non-adherence issues noted in their charts more often than controls (p = 0.03). However, other compliance data did not significantly differ between groups. CONCLUSION: Access to care, initial VA worse than 20/40, and poor control of IOP were the major risk factors associated with blindness from POAG. Future studies should examine earlier, more effective approaches to glaucoma screening as well as the role of genetics in these significantly younger patients who progress to blindness.

Primary Open-Angle Glaucoma in Individuals of African Descent: A Review of Risk Factors.

OBJECTIVE: To identify the major risk factors for primary open-angle glaucoma (POAG) in individuals of African descent. METHODS: We searched PubMed for relevant articles, with results spanning April 1947 to present. All abstracts were reviewed and, where relevant to POAG and race, articles were catalogued and analyzed. Additional sources were identified through citations in articles returned by our search. RESULTS: Numerous potential POAG risk factors were identified and organized into categories by demographics (age, sex, and skin color), lifestyle choices (smoking, alcohol), comorbidities (hypertension, diabetes, and obesity), ophthalmic findings (eye structure, central corneal thickness, corneal hysteresis, elevated intraocular pressure, myopia, cataract, and vascular abnormalities), family history, socioeconomic status, and adherence. Older age, male sex, lower central corneal thickness, decreased corneal hysteresis, elevated intraocular pressure, myopia, vascular abnormalities, and positive family history were definitively associated with increased risk of POAG. CONCLUSIONS: Individuals at greatest risk for POAG should be screened by an ophthalmologist to allow earlier detection and to slow disease progression. Further studies on the genetics of the disease will provide more insight into underlying pathologic mechanisms and could lead to improved therapeutic interventions. Continued research in urban areas with large populations of blacks is especially needed.

¿Son el examen clínico, la mamografía y la ecografía métodos confiables para la valoración del tumor residual posterior a neoadyuvancia? / Are the Physical Examination, Ultrasonography and Mammography reliable methods for the assessment of residual tumor following neoadjuvant chemotherapy?

Introducción La quimioterapia neoadyuvante es un tratamiento válido en Estadios II y III de cáncer de mama, con la ventaja de que permite evaluar in vivo la respuesta y realizar mayor número de cirugías conservadoras. Para la decisión terapéutica es muy importante la valoración del tumor residual por clínica y/o por imágenes. Objetivo Determinar la capacidad del examen físico, la mamografía y la ecografía en la valoración del tumor residual y de la respuesta patológica completa. Material y método Examen retrospectivo de 24 pacientes tratadas con neoadyuvancia en el período 2010-2015, evaluadas con los tres métodos diagnósticos previamente al tratamiento quirúrgico. Resultados El tamaño tumoral estimado por cualquiera de los tres métodos tuvo una pobre correlación con el tamaño de la anatomía patológica (Índice kappa < 0,4 para los tres), con una exactitud en ± 0,5 cm del 33,3% para el examen físico, del 22,2% para la mamografía y del 18,2% para la ecografía. La valoración clínica preoperatoria de la axila presentó una sensibilidad del 53,8% y una especificidad del 81,8%. Conclusiones En nuestra experiencia, el examen físico, la mamografía y la ecografía presentan una pobre correlación con el tumor residual, lo que nos lleva a ahondar esfuerzos para mejorar la calidad de los mismos.

Introduction Neoadjuvant chemotherapy is a valid treatment in Stage II and III breast cancer, with the advantage that allows evaluation in vivo response and performs more conservative surgery. For therapeutic decision, it is very important the assessment of residual tumor by clinical examination and/or images. Objective Determine the capacity of physical examination, mammography and ultrasound in the assessment of residual tumor and pathological complete response. Materials and method Retrospective review of 24 patients treated with neoadjuvant chemotherapy between 2010-2015, evaluated with the three diagnostic methods prior to surgical treatment. Results Estimated by any of the three methods, tumor size had a poor correlation with the size of the Pathology (kappa index <0.4 for all three) with an accuracy of ± 0.5 cm 33.3% for physical examination, 22,2% for mammography and 18.2% for ultrasound. Clinical preoperatory assessment of the axilla had a sensitivity of 53.8% and a specificity of 81.8%. Conclusions In our experience, physical examination, mammography and ultrasound have a poor correlation with the residual tumor, leading us to deepen efforts to improve the quality of them.