ABSTRACT
Macular coloboma is a congenital defect of the retina and choroid in the macular region. It may appear due to an intrauterine inflammation or a developmental abnormality. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a result of malformation of the renal tubule. Its combination with ocular manifestations may be genetic, specifically in case of claudin-19 (CLDN-19) gene mutations. The combination of FHHNC and ocular manifestations is not always present in these patients. Optical coherence tomography (OCT) helps us diagnose this condition by allowing us to evaluate and confirm the absence of retina layers without histological examination. Although genetic testing is necessary to diagnose mutational alterations of the CLDN-19 gene, in our case, it was not necessary to diagnose the FHHNC patient with macular coloboma, since the diagnosis of ocular damage had been already accurately established by the OCT.
Subject(s)
Choroid/abnormalities , Coloboma/diagnostic imaging , Eye Diseases, Hereditary/diagnostic imaging , Macula Lutea/abnormalities , Renal Tubular Transport, Inborn Errors/diagnostic imaging , Retina/abnormalities , Tomography, Optical Coherence , Adolescent , Blindness/diagnosis , Cataract/diagnosis , Humans , Macula Lutea/diagnostic imaging , Male , Visual AcuityABSTRACT
Fundamento y objetivo: Se pretende estudiar la asociación del glaucoma con la enfermedad vascular, mediante 2 vías independientes: la asociación del glaucoma con las enfermedades cardiovasculares (ECV) y el estudio de las variables de hemodinámica ocular (VHO) en el glaucoma. Material y método: Se realizó un estudio transversal con 73 sujetos: 25 sin glaucoma, 28 glaucomas primarios de ángulo abierto (GPAA) y 20 glaucomas de tensión normal (GTN). Se midieron las VHO, factores de riesgo cardiovascular (FRCV) y ECV. Resultados: Se encontró un mayor porcentaje de FRCV y ECV en pacientes afectados de GPAA (p = 0,002 y p = 0,016) y GTN (p = 0,001 y p = 0,010) respecto al grupo control. En lo que respecta a las VHO, en los pacientes con GPAA encontramos menores velocidades sistólicas y diastólicas, así como mayores índices de resistencia en la arteria central de la retina (p < 0,05). Además, en ambos tipos de glaucoma encontramos índices de resistencia más elevados en la arteria ciliar posterior (p < 0,05). Conclusiones: Existe una asociación estadísticamente significativa entre la presencia de ECV y/o FRCV y la enfermedad glaucomatosa, hallazgo que se complementa con los datos de las VHO. Estos valores indican una peor perfusión ocular en los pacientes con enfermedad glaucomatosa (AU)
Background and objective: We sought to study the association of glaucoma with vascular disease, with 2 independent pathways: the association of glaucoma with cardiovascular disease (CVD) and the study of ocular hemodynamic variables (OHV) in glaucoma. Material and method: Cross-sectional study consisting of 73 patients: 25 without glaucoma, 28 primary open-angle glaucoma (POAG) and 20 normal-tension glaucoma (NTG). OHV, cardiovascular risk factors (CVRF) and CVD were determined. Results: We found a greater number of CVRF and CVD in patients affected by POAG (P = .002 and P = .016) and NTG (P = .001 and P = .010) compared to the control group. With regard to OHV, in patients suffering from POAG, we found lower systolic and diastolic velocities and higher resistance index in the central retinal artery (P < .05). Moreover, in both types of glaucoma, we found higher resistance index in the posterior ciliary artery (P < .05). Conclusions: There is a statistically significant association between the presence of CVD and/or CVRF and glaucomatous disease, a finding that is supplemented with data from the OHV. These values indicate a worst ocular perfusion in patients with glaucomatous disease (AU)
Subject(s)
Humans , Glaucoma/physiopathology , Cardiovascular Diseases/epidemiology , Hemodynamics , Glaucoma/complications , Risk Factors , Ocular Physiological Phenomena , Cross-Sectional Studies , Case-Control Studies , Ocular Hypertension/complications , Hypertension/complicationsABSTRACT
PURPOSE: To test the safety, tolerability, and efficacy of interferon alpha 2b for conjunctival intraepithelial neoplasia (CIN) and to evaluate the risk factors associated with its clinical outcome. A secondary goal is to identify predictors of duration of treatment to achieve good results. METHODS: A prospective, noncomparative case series. Twenty-two patients with CIN were treated with interferon alpha 2b (1 million IU/mL) 4 times daily. Patients were evaluated by slit-lamp biomicroscopy, corneal histopathology, and impression cytology and the same physician carried out the diagnosis in all cases. Patients were monitored for relapses for 48 months after interferon therapy had ended. The following statistical tests were carried out: descriptive, bivariate correlation, and survival curves. RESULTS: Topical therapy eliminated clinical signs of disease in 91% of the cases (20 of 22). The average time to CIN resolution was 3.5 months (range 1-9), with only 4 patients presenting adverse effects (1 irritative conjunctivitis and 3 punctate keratitis). None of the 4 cases experiencing adverse reactions required discontinuation of therapy. Patients living in areas with high ultraviolet radiation levels had a longer clinical resolution (4.2 months) than those living in areas with low UV levels (1.8 months, P=0.01). There was association with statistical significance between the size of the lesion at the third month and treatment duration (P=0.048). CONCLUSION: Topical interferon alpha 2b is an effective and safe treatment option for CIN. The place of residence can be a risk factor; areas like coast with higher UV levels result in a slower clinical resolution than inland areas. The size of the lesion after the third month of treatment with interferon can be a predictor of time to clinical resolution of CIN.
Subject(s)
Antineoplastic Agents/therapeutic use , Carcinoma in Situ/drug therapy , Conjunctival Neoplasms/drug therapy , Interferon-alpha/therapeutic use , Administration, Ophthalmic , Adult , Aged , Aged, 80 and over , Antineoplastic Agents/administration & dosage , Antineoplastic Agents/adverse effects , Carcinoma in Situ/pathology , Conjunctival Neoplasms/pathology , Female , Follow-Up Studies , Humans , Interferon alpha-2 , Interferon-alpha/administration & dosage , Interferon-alpha/adverse effects , Male , Middle Aged , Ophthalmoscopy/methods , Prognosis , Prospective Studies , Recombinant Proteins/administration & dosage , Recombinant Proteins/adverse effects , Recombinant Proteins/therapeutic use , Risk Factors , Slit Lamp , Time Factors , Treatment Outcome , Ultraviolet Rays/adverse effectsABSTRACT
BACKGROUND AND OBJECTIVE: We sought to study the association of glaucoma with vascular disease, with 2 independent pathways: the association of glaucoma with cardiovascular disease (CVD) and the study of ocular hemodynamic variables (OHV) in glaucoma. MATERIAL AND METHOD: Cross-sectional study consisting of 73 patients: 25 without glaucoma, 28 primary open-angle glaucoma (POAG) and 20 normal-tension glaucoma (NTG). OHV, cardiovascular risk factors (CVRF) and CVD were determined. RESULTS: We found a greater number of CVRF and CVD in patients affected by POAG (P=.002 and P=.016) and NTG (P=.001 and P=.010) compared to the control group. With regard to OHV, in patients suffering from POAG, we found lower systolic and diastolic velocities and higher resistance index in the central retinal artery (P<.05). Moreover, in both types of glaucoma, we found higher resistance index in the posterior ciliary artery (P<.05). CONCLUSIONS: There is a statistically significant association between the presence of CVD and/or CVRF and glaucomatous disease, a finding that is supplemented with data from the OHV. These values indicate a worst ocular perfusion in patients with glaucomatous disease.
