RESUMEN
INTRODUCTION: The aim of this study was to evaluate the efficacy of trabeculectomy with suprachoroidal derivation in eyes with uncontrolled glaucoma after a 24-month follow-up period. METHODS: This was a prospective uncontrolled non-randomized case series. All patients scheduled for a trabeculectomy due to uncontrolled glaucoma at the "Instituto de Glaucoma y Catarata" (Lima, Peru) between 2011 and 2014 were included. Thee patients underwent trabeculectomy with mitomycin C and suprachoroidal derivation with two autologous scleral flaps. Postsurgical follow-up visits took place on day 1, and at 1, 6, 12, 18 and 24 months. Best corrected visual acuity (BCVA), intraocular pressure (IOP) and complications at each control were registered. Main outcome measures were IOP reduction, number of glaucoma medications and complication rate. Postoperative IOP of > 21 mmHg, < 5 mmHg, additional glaucoma surgery or severe complications were considered as indications of failure. RESULTS: Thirty-three participants (41 eyes) were included in the study, of whom 27 (81.82%) (31 eyes [75.61%]) finished the 24 months of follow-up. At the end of the follow-up, mean IOP had decreased by 11.29 ± 9.32 mmHg (p < 0.001), and glaucoma medication usage in 25 (25/31; 80.65%) eyes had stopped. Ten (10/41; 24.39%) patients complained of blurred vision, and 15 (15/41; 36.59%) patients referred to foreign body sensation the first day after surgery; both sensations resolved spontaneously after 1 week in all cases. No failures, significant changes in BCVA (p = 0.387) or severe complications were found. CONCLUSIONS: In this case series, trabeculectomy with suprachoroidal derivation exhibited high efficacy and safety after a 24-month follow-up. A larger sample with a control group is needed to confirm our initial findings.
RESUMEN
PURPOSE: To search for MYOC mutations in Peruvian primary open angle glaucoma (POAG) families. PATIENTS AND METHODS: Two patients from each of the 11 POAG Peruvian families were screened for sequence variants in MYOC coding exons by conformational sensitive gel electrophoresis and sequencing was performed on the samples indicating probable sequence changes. RESULTS: We detected 2 families bearing distortions of conformational sensitive gel electrophoresis indicating mutations. Sequencing of these samples revealed coding sequence changes. A native Andean descent family presented with a MYOC mutation, Asn480Lys (C-->G at nucleotide 1440). This is different from the previously reported C-->A change at nucleotide 1440 that causes Asn480Lys in 2 unrelated French and Dutch families with glaucoma of variable expressivity, and indicates a third independent event. A second family of admixed origin showed the presence of the known Arg76Lys polymorphism. CONCLUSIONS: In the study of MYOC variants in 11 POAG Peruvian families, we have found a family of ethnically admixed origin with polymorphism Arg76Lys and a family of Andean descent bearing a third event of the Asn480Lys, the MYOC mutation that has been reported in the highest number of POAG patients (>80 cases). Analysis of this family could contribute with information about disease manifestation, progression, and treatment response in the context of a distinct genetic background and also climatic, altitude, and socioeconomical conditions.
Asunto(s)
Proteínas del Citoesqueleto/genética , Proteínas del Ojo/genética , Glaucoma de Ángulo Abierto/genética , Glicoproteínas/genética , Indígenas Sudamericanos/genética , Mutación Puntual , Adolescente , Adulto , Anciano , Análisis Mutacional de ADN , Electroforesis en Gel de Agar , Femenino , Glaucoma de Ángulo Abierto/etnología , Glaucoma de Ángulo Abierto/cirugía , Humanos , Presión Intraocular , Masculino , Persona de Mediana Edad , Linaje , Perú/epidemiología , Reacción en Cadena de la Polimerasa , Polimorfismo de Nucleótido Simple , Recurrencia , Análisis de Secuencia de ADN , TrabeculectomíaRESUMEN
La genética molecular es una herramienta que está revelando los genes responsables de enfermedades hereditarias, incluso algunos de ellos han sido ya identificados y caracterizados. En otros genes la identificación está más cercana porque se les ha localizado (mapeado) en regiones cromosómicas específicas donde su búsqueda se refina paulatinamente. El glaucoma primario de ángulo abierto (GPAA) es una anomalía hereditaria que sin tratamiento puede llevar a la ceguera, pero si es detectado tempranamente, permite preservar la visión. Hay 6 loci (genes) para GPAA: GLC1A localizado en la región cromosómica 1q24.3-q25.2, GLC1B (2cen-q13), GLC1C (3q21-q24), GLC1D (8q23), GLC1E (10p14-p15) y GLC1F (7q35-q36). Hemos estudiado varias familias peruanas con GPAA para analizar su asociación con marcadores en las regiones mencionadas. Una familia de Chincha ha mostrado cosegregación con marcadores de 2cen-q13 indicando que el glaucoma en esta familia pertenece a GLC1B. Un análisis posterior con más familiares nos revela una recombinación que restringe la región crítica para GLC1B a 2cen-q12. Esta reducción en términos genómicos descarta varios millones de nucleótidos y muchos genes de 2q13 facilitando la identificación de GLC1B.
Molecular genetics is an important tool to elucidate the cause of hereditary diseases. One of the strategies used in this type of studies, is to map the gene responsible of the disease to a specific chromosome region. This has helped in the characterization of some genes, but others remain to be identified. Primau Open Angle Glaucoma (POAG) is a hereditary disease that can lead to blindness if untreated. There are six loci for POAG: GLClA on chromosome region lq24.3-q25.2, GLClB (2cenq13), GLClC (3q21-q24), GLClD (8q23), GLClE (10p14p15) y GLClF (7q35-q36). In a study of several POAG Peruvian families we have characterized one that cosegregates with markers of chromosome 2 corresponding to a new reported family for GLCIB located at 2cen-2q13. One additional individual in the family reveals genetic recombination that refines the position to a smaller region in 2cen-q12 eliminating several millions of base pairs in the search of the GLCIB gene.