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Prognostic factors for visual acuity in patients with LHON after gene therapy

This retrospective study investigates prognostic factors affecting the visual acuity after a single intravitreal injection of rAAV2-ND4 gene therapy in 53 patients with Leber’s hereditary optic neuropathy (LHON) with mutation at site 11 778. Patients were reviewed one and three...

Ablepharon-macrostomia syndrome

The ablepharon-macrostomia syndrome is a very rare condition caused by a dominant mutation in the TWIST2 gene. Congenital defects include rudimentary eyelids, macrostomia, ambiguous genitalia and campodactyly. Neonates are at risk of severe corneal exposure without intervention. Previous reports have...

Surgical results in spinocerebellar ataxia (SCA)

Patients with SCA frequently develop ocular motility abnormalities including nystagmus, abnormal smooth pursuits, dysmetric saccades, divergence paresis and ophthalmoplegia. Incidence of diplopia is higher in SCA type 3. The purpose of this study was to evaluate surgical responses and outcomes...

Online retinoblastoma surveillance tool

Given the vision and life-threatening course of retinoblastoma (RB), it has become a significant heritable childhood cancer to screen for. To recommend surveillance, risk must be estimated and genetic testing plays a vital role. However, genetic tests vary based on...

Features of branchio-oculo-facial syndrome

Branchio-oculo-facial (BOF) syndrome is an autosomal dominant inherited syndrome that typically presents with branchial cleft sinus defects, ocular anomalies and dysmorphic facial appearance. The authors present a new case alongside the results of a literature review describing the common genetic...

Progression of macular atrophy in Stargardt disease

The authors present a study of a cohort of patients with genetically proven ABCA4 gene mutation related Stargardt disease. They aimed to quantify the effect of lesion location and topography on disease progression using fundus autofluorescence imaging. One hundred and...

Association between neurodegeneration and macular perfusion in the progression of diabetic retinopathy

In this prospective three-year longitudinal study, the authors aimed to explore the relation between retinal neurodegenerative changes and vessel closure (VC) in individuals with non-proliferative diabetic retinopathy (NPDR). The participants included 74 individuals with type 2 diabetes, NPDR, and Early...

Morphological and functional outcome after subthreshold laser coagulation with a frequency-doubled Nd:YAG laser

Central serous chorioretinopathy; Retinal imaging; Retinal laser coagulation

Retinal Pharmacotherapeutics (Developments in Ophthalmology)

Retinal Pharmacotherapeutics is volume 55 in the ‘Developments in Ophthalmology’ series released by Karger. As the name of the series suggests it aims to explore current and future developments in retinal therapeutics. The book itself is split into six main...