[Genetic characterization of adenovirus isolated from follicular conjunctivitis and epidemic keratoconjunctivitis in a group of Mexican patients]. / Caracterización genética de adenovirus aislados de conjuntivitis folicular y queratoconjuntivitis epidémica en un grupo de pacientes mexicanos.

OBJECTIVE: To determine the adenovirus serotype in Mexican patients with folicular conjunctivitis and keratoconjunctivitis. METHODS: Adenovirus-specific PCR was used to analyze sample scrapings from the inferior fornix of patients with follicular conjunctivitis and clinical suspicion of adenovirus from January 2005 to December 2006. Identification of the serotype was made by automated sequencing. The nucleotide sequences obtained were compared with the reported sequences in GenBank. Descriptive statistical analyses were performed on the results. RESULTS: Of the 77 samples with clinical data of follicular conjunctivitis that were analyzed, 43 (56%) presented adenovirus. The sequencing of each positive sample allowed the identification of Ad1, Ad2, Ad3 and Ad8; the sequences of the serotype were identical those reported in GenBank with accession numbers: AF 534906 and AY 224420 for a sequence of the gene coding for the filament of Ad1 and Ad2 respectively, and AY 854180 and DQ 149614 for a sequence of the gene that codes for the Hexon protein of Ad3 and Ad8 respectively. From the statistical analysis it was possible to determine that a preferential seasonality of the serotype does not exist. CONCLUSION: In this work the Ad1, Ad2 and Ad3 serotypes were identified in patients with clinical diagnosis of follicular conjunctivitis in 2005. Ad2 was the predominant serotype. Ad8 was also detected in an outbreak of epidemic keratoconjunctivitis. From an epidemiological point of view, no serotype found seems to have a preferred seasonality.

Caracterización genética de adenovirus aislados de conjuntivitis folicular y queratoconjuntivitis epidémica en un grupo de pacientes mexicanos / Genetic characterization of adenovirus isolated from follicular conjunctivitis and epidemic keratoconjuntivitis in a group of mexican patients

Objetivo: Conocer los serotipos de adenovirus en pacientes mexicanos con conjuntivitis folicular y queratoconjuntivitis. Métodos: Se analizaron por PCR específica para adenovirus, muestras de fondo de saco conjuntival inferior de 77 pacientes diagnosticados con conjuntivitis folicular por sospecha clínica de infección por adenovirus, de enero de 2005 a diciembre de 2006. La identificación de los serotipos se realizó por secuenciación automatizada. Las secuencias de nucleótidos obtenidos fueron comparados con las secuencias reportadas en el GenBank. En el análisis de los resultados se utilizó la estadística descriptiva. Resultados: Se analizaron 77 muestras de las cuales el 56% presentaron adenovirus. La secuenciación de cada muestra positiva permitió la identificación de Ad1, Ad2, Ad3 y Ad8; las secuencias de los serotipos fueron idénticas a las reportadas en el GenBank con las direcciones: AF 534906 y AY 224420 para una secuencia del gen que codifica el filamento de Ad1 y Ad2 respectivamente y AY 854180 y DQ 149614 para una secuencia del gen que codifica la proteína Hexón de Ad3 y Ad8 respectivamente. En el análisis estadístico, se pudo observar que no existe, en apariencia, una estacionalidad preferencial de los serotipos identificados. Conclusiones: En este trabajo se identificaron los serotipos Ad1, Ad2 y Ad3 en pacientes con diagnóstico clínico de conjuntivitis folicular en el 2005, Ad2 fue el serotipo predominante. También se detectó en un brote de queratoconjuntivitis epidémica por Ad8. Desde el punto de vista epidemiológico, ningún serotipo encontrado parece tener estacionalidad preferente

Objetive: To determine the adenovirus serotype in Mexican patients with folicular conjunctivitis and keratoconjunctivitis. Methods: Adenovirus-specific PCR was used to analyze sample scrapings from the inferior fornix of patients with follicular conjunctivitis and clinical suspicion of adenovirus from January 2005 to December 2006. Identification of the serotype was made by automated sequencing. The nucleotide sequences obtained were compared with the reported sequences in GenBank. Descriptive statistical analyses were performed on the results. Results: Of the 77 samples with clinical data of follicular conjunctivitis that were analyzed, 43 (56%) presented adenovirus. The sequencing of each positive sample allowed the identification of Ad1, Ad2, Ad3 and Ad8; the sequences of the serotype were identical those reported in GenBank with accession numbers: AF 534906 and AY 224420 for a sequence of the gene coding for the filament of Ad1 and Ad2 respectively, and AY 854180 and DQ 149614 for a sequence of the gene that codes for the Hexon protein of Ad3 and Ad8 respectively. From the statistical analysis it was possible to determine that a preferential seasonality of the serotype does not exist. Conclusion: In this work the Ad1, Ad2 and Ad3 serotypes were identified in patients with clinical diagnosis of follicular conjunctivitis in 2005. Ad2 was the predominant serotype. Ad8 was also detected in an outbreak of epidemic keratoconjunctivitis. From an epidemiological point of view, no serotype found seems to have a preferred seasonality (Arch Soc Esp Oftalmol 2008; 83: 161-168)

[Autosomal dominant granular corneal dystrophy caused by a TGFBI gene mutation in a Mexican family]. / Distrofia corneal granular autosómica dominante causada por mutación del gen TGFBI en una familia Mexicana.

OBJECTIVE: To describe the clinical data and the results of molecular analyses of the TGFBI gene in a patient with classic granular stromal corneal dystrophy (type I). METHODS: A female patient aged 60-years complaining of a long-standing decrease of visual acuity bilaterally associated with photophobia and foreign body sensation, underwent a complete ophthalmologic examination. Molecular analyses of DNA from the patient and from an affected brother included PCR amplification of exons 4, 11, 12, and 14 of the TGFBI gene and direct automated sequencing of the PCR products. RESULTS: The affected patient showed a pattern of corneal stromal lesions that was compatible with a diagnosis of classic granular dystrophy. No involvement of other corneal layers was evident. Molecular analysis disclosed a point mutation in exon 14 of the TGFBI gene which consisted of an adenine to guanine change at nucleotide position 1924, predicting a substitution of arginine instead of histidine at residue 626 of the TGFBI protein (H626R). An identical mutation was detected in DNA from her affected brother. CONCLUSIONS: This is the first time that a case of stromal granular dystrophy has been demonstrated to be caused by the H626R mutation, a molecular defect classically detected in the phenotypically distinct lattice corneal dystrophy. Our data indicate that the same molecular defects in the TGFBI gene lead to different phenotypes in stromal dystrophies, thus expanding the genotypic-phenotypic spectrum in this group of corneal diseases.

Distrofia corneal granular autosómica dominante causada por mutación del gen TGFBI en una familia mexicana / Autosomal dominant granular corneal dystrophy caused by a TGFBI gene mutation in a mexican family

Objetivo: Las distrofias corneales son un grupo dealteraciones hereditarias en las que una acumulaciónprogresiva de material amiloide, hialino o mixtoen las distintas capas corneales produce disminuciónde la transparencia corneal. Se describen lascaracterísticas clínicas y los estudios molecularesdel gen TGFBI en una paciente Mexicana con unadistrofia corneal estromal de tipo granular.Métodos: Examen oftalmológico completo, caracterizaciónfenotípica de la distrofia corneal, y análisisdel gen TGFBI por reacción en cadena de lapolimerasa (PCR) y por secuenciación nucleotídica,en DNA de la propósita y de un hermano afectado.Resultados: Las lesiones corneales observadas en lapaciente fueron compatibles con el diagnóstico dedistrofia corneal estromal de tipo granular (clásica).No se observaron lesiones en las otras capas corneales.El análisis del gen TGFBI en DNA de la pacientey de un hermano afectado reveló una mutaciónpuntual, de adenina a guanina, en el exón 14 de TGFBIque origina un cambio de histidina a arginina enel aminoácido 626 (H626R) de la proteína TGFBI.Conclusiones: Éste es el primer caso en el que sedemuestra que una distrofia corneal granular es distrocausadapor la mutación H626R en TGFBI. Estamutación ha sido reportada consistentemente en ladistrofia estromal de tipo empalizada, clínicamentediferente a la granular. Nuestros datos indican queexisten excepciones en la aparente correlacióngenotipo-fenoitipo establecida en el grupo de distrofiascorneales asociadas a mutación en el genTGFBI

Objective: To describe the clinical data and the ;;results of molecular analyses of the TGFBI gene in ;;a patient with classic granular stromal corneal dystrophy ;;(type I). ;;Methods: A female patient aged 60-years complaining ;;of a long-standing decrease of visual acuity ;;bilaterally associated with photophobia and foreign ;;body sensation, underwent a complete ophthalmologic ;;examination. Molecular analyses of DNA ;;from the patient and from an affected brother included ;;PCR amplification of exons 4, 11, 12, and 14 of ;;the TGFBI gene and direct automated sequencing ;;of the PCR products. ;;Results: The affected patient showed a pattern of ;;corneal stromal lesions that was compatible with a ;;diagnosis of classic granular dystrophy. No involvement ;;of other corneal layers was evident. Molecular ;;analysis disclosed a point mutation in exon 14 of ;;the TGFBI gene which consisted of an adenine to ;;guanine change at nucleotide position 1924, predicting ;;a substitution of arginine instead of histidine at ;;residue 626 of the TGFBI protein (H626R). An ;;identical mutation was detected in DNA from her ;;affected brother. Conclusions: This is the first time that a case of ;;stromal granular dystrophy has been demonstrated ;;to be caused by the H626R mutation, a molecular ;;defect classically detected in the phenotypically ;;distinct lattice corneal dystrophy. Our data indicate ;;that the same molecular defects in the TGFBI gene ;;lead to different phenotypes in stromal dystrophies, ;;thus expanding the genotypic-phenotypic spectrum ;;in this group of corneal diseases