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Albinism: Celebrating international awareness, advocacy and clinical insights
Albinism is a group of inherited genetic disorders which occurs worldwide, regardless of ethnicity or gender, and that affects melanin production in the hair, skin and eyes. Prevalence varies globally, ranging from approximately 1 in 20,000 individuals in Europe and...
Conjunctival mapping biopsies in sebaceous carcinoma
This is a retrospective review of conjunctival mapping biopsies in patients with periocular sebaceous cell carcinoma. The authors reviewed the biopsy technique and outcomes of 45 patients who had mapping biopsies performed over a 25-year period. A total of 429...
Ozurdex wound leakage
This letter to the editor describes two cases of wound leakage after Ozurdex injection. The first case is a man who had four previous injections for an underlying diagnosis of chronic serpiginous choroiditis, who was also on a course of...
Effect of trabeculectomy on corneal endothelial cell loss
This is a prospective study of 117 eyes for two years after trabeculectomy, to investigate the corneal endothelial cell density (CECD) by specular microscopy prior to and after surgery on a six monthly basis. At six, 12, 18 and 24...
Comparing visual acuity to visual demand levels in classrooms
This study investigated the actual logMAR and contrast sensitivity demands in a cross-sectional sample of kindergarten through grade 12 classrooms in New York city. This was done to consider the potential benefit in optimising the specificity of visual acuity-based screening...
Distribution, progression, and outcomes of inflammatory chorioretinal lesions
This study investigated the distribution and progression of multifocal choroiditis (MFC) inflammatory lesions in 25 eyes of 20 patients and their correlations with clinical outcomes at 24 months. The distribution of choroiditis inflammatory lesions were evaluated semi-automatically using a dedicated...
Using perimetry to support lesion location in the retrochiasmal visual pathway
The authors present a retrospective case review of patients with homonymous hemianopia from a 30-year period. Inclusion criteria included completion of perimetry within two years of diagnosis and a MRI brain. Data extracted from the records included demographics, diagnosis details...
Long-term effect of gene therapy on Leber’s congenital amaurosis
After reporting the first successful gene therapy results for RPE65 deficiency in three patients in a brief report in 2008, the same team from London now report the results of 12 patients followed up for three years after transfection. As...
CHARGE syndrome features
CHARGE syndrome (CS) includes coloboma, heart defects, atresia of the choanae, retardation of growth and development, genital and urinary anomalies and ear anomalies. The authors developed an original self-administered questionnaire (VISIOcharge) for patients with CS and used it to evaluate...
Visual prognosis in Irish Leber’s hereditary optic neuropathy
Leber’s hereditary optic neuropathy (LHON) is an inherited optic neuropathy This paper presents a retrospective review of clinical data from patients with LHON presenting to an Irish tertiary referral ophthalmic hospital. Clinical and genetic characteristics were assessed for useful biomarkers...
Could idebenone by the solution for treating dominant optic atrophy?
Dominant optic atrophy (DOA) is a disease of the retinal ganglion cells, with no current treatment options. In most cases, DOA is caused by a mutation in the OPA1 gene. The aim of this study was to evaluate the effect...
