Graefes Arch Clin Exp Ophthalmol
September 2024
Purpose: To assess the clinical relevance of The European School for Advanced Studies in Ophthalmology (ESASO) classification in patients with diabetic macular edema (DME) after their first dexamethasone implant (DEXI) treatment.
Methods: Retrospective real-world study conducted on consecutive DME patients who underwent DEXI treatment and were controlled at month-2. Subjects were initially classified according to the ESASO classification stages.
Background And Objective: Intravitreal dexamethasone implant (DEXI) has been placed as an effective option to treat diabetic macular edema (DME). However, there is no consensus on the best time to introduce it. We conducted a study to evaluate anatomical and functional behavior after the first DEXI according to previous treatment.
View Article and Find Full Text PDFWe describe a retrospective case report of dacryoadenitis associated with orbital inflammatory disease in a patient with confirmed SARS-CoV-2 infection.A 22-year-old previously fit and healthy male presented with 4-day history of right ocular redness, eyelid swelling and blurred vision associated with discomfort and pain in the lacrimal gland area. He was found to have right acute dacryoadenitis based on clinical examination and orbital imaging.
View Article and Find Full Text PDFPurpose: To investigate the role of WDR36 and P53 sequence variations in POAG susceptibility.
Methods: The authors performed a case-control genetic association study in 268 unrelated Spanish patients (POAG1) and 380 control subjects matched for sex, age, and ethnicity. WDR36 sequence variations were screened by either direct DNA sequencing or denaturing high-performance liquid chromatography.
Glaucoma is an inherited complex and heterogeneous disease, and one of the most prevalent causes of definitive blindness in the world. Recent reports have indicated that heterozygous mutations of the CYTOCHOROME P4501B1 (CYP1B1) gene are present in 4-10% of patients with primary open-angle glaucoma (POAG). To further evaluate the role of CYP1B1 mutations in POAG we extended our previous association study and carried out a functional analysis of the mutations identified by polymerase chain reaction (PCR) DNA sequencing of the three exons of the gene in a total of 245 unrelated Spanish patients and 326 control subjects.
View Article and Find Full Text PDFCase Report: A 43-year-old woman referred for a hyperemic node in the inferior conjunctival fornix. No improvement was observed after 10 days of antibiotic and anti-inflammatory topical treatment, so biopsy-extirpation was performed. Histopathological and immunohistochemical findings suggested the diagnosis of Langerhans cell histiocytosis (LCH).
View Article and Find Full Text PDFPurpose: 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.
Case Report: Miller Fisher Syndrome (MFS) is the most frequent variant of the Guillain-Barré Syndrome. It is characterised by the classic triad of ophthalmoplegia, ataxia and areflexia. We present a case of a patient who developed these clinical findings 5 days after flu vaccination.
View Article and Find Full Text PDFPurpose: Mutations in the transforming growth factor beta I (TGFBI) gene cause several types of autosomal-dominant corneal dystrophies. We investigated the role of this gene in two Spanish families affected by lattice type I or granular type I corneal dystrophies.
Methods: We recruited 13 subjects from two unrelated families diagnosed with autosomal dominant lattice type I or granular type I corneal dystrophies.
Purpose: To investigate CYP1B1 gene mutations in Spanish patients with ocular hypertension (OHT) or primary open angle glaucoma (POAG).
Methods: The two coding exons of CYP1B1 were screened for sequence alterations by direct PCR DNA sequencing in 37 and 82 unrelated Spanish subjects diagnosed with OHT and POAG, respectively. As a control we used a group of 93 subjects from whom OHT or glaucoma were ruled out.