Publications by authors named "Jose Belmonte-Martinez"
Purpose: The purposes of this study were to evaluate the genotypic and phenotypic correlations of Bietti crystalline dystrophy and to investigate the utility of in vivo corneal confocal microscopy in diagnosing this disorder.
Methods: A Spanish woman (proband) with a clinical diagnosis of Bietti crystalline dystrophy and 7 members of her family were recruited prospectively for complete clinical ophthalmic examination and genetic study. The medical records of an additional family member were reviewed retrospectively.
Purpose: To analyze the contributions of cytochrome P4501B1 (CYP1B1) mutations to primary congenital glaucoma (PCG) in Spanish patients.
Methods: We analyzed, by polymerase chain reaction (PCR) DNA sequencing, the presence of promoter (-1 to -867) and exon CYP1B1 mutations in 38 unrelated Spanish probands affected by PCG. Functional analysis of nine identified mutations was performed measuring ethoxyresorufin O-deethylation activity and CYP1B1 stability in transiently transfected human embryonic kidney 293T (HEK-293-T) cells.
Purpose: Mentally retarded patients with keratoconus who underwent penetrating keratoplasty (PK) were reviewed to determine long-term graft survival outcome.
Methods: This longitudinal retrospective study included 20 mentally retarded patients who underwent PK at the University Hospital of Alicante during the years 1978-2007. Variables included donor corneal study, type and level of mental retardation, demographic data, age at which PK was performed, preoperative ocular and corneal study, surgical technique, histopathologic study, complications, immunological graft rejection, mean suture permanency, corneal endothelium study, and final anatomic and visual outcome.