Current advances in multimodal imaging in geographic atrophy secondary to age-related macular degeneration: A review.

As we move toward an era in which there will be treatment options for geographic atrophy (GA) secondary to age-related macular degeneration, the need to accurately understand and interpret multimodal imaging (MMI) for the condition is paramount. This review discusses the evolution of MMI in GA and how it has led to a greater understanding of different phenotypes and risk factors for progression. These advancements have allowed novel imaging biomarkers to be used as end points in large interventional studies exploring new therapies for GA treatment.

Orbital cavernous venous malformation shrinkage during fractionated stereotactic radiotherapy contributing to the development of radiation retinopathy.

Background: Posterior movement of ocular tissue secondary to orbital cavernous venous malformation shrinkage from fractionated stereotactic radiotherapy can allow healthy structures to move into the radiation field during treatment. This may carry an increased risk of radiation-induced retinopathy.

Methods: We present a case of a young female whose radiotherapy treatment for an orbital cavernous venous malformation resulted in a 3 mm reduction in proptosis and subsequent retinopathy.

Clinical performance of predicting late age-related macular degeneration development using multimodal imaging.

Background: To examine whether the clinical performance of predicting late age-related macular degeneration (AMD) development is improved through using multimodal imaging (MMI) compared to using colour fundus photography (CFP) alone, and how this compares with a basic prediction model using well-established AMD risk factors.

Methods: Individuals with AMD in this study underwent MMI, including optical coherence tomography (OCT), fundus autofluorescence, near-infrared reflectance and CFP at baseline, and then at 6-monthly intervals for 3-years to determine MMI-defined late AMD development. Four retinal specialists independently assessed the likelihood that each eye at baseline would progress to MMI-defined late AMD over 3-years with CFP, and then with MMI.

Dose Response in the Subthreshold Nanosecond Laser Trial in Early Stages of AMD: A LEAD Study Report.

Background And Objective: To examine the association between treatment parameters and the progression to late age-related macular degeneration (AMD) in the Laser Intervention in Early Stages of Age-Related Macular Degeneration (LEAD) study, a randomized, controlled trial of a subthreshold nanosecond laser (SNL) for slowing disease progression in the early stages of AMD.

Patients And Methods: The association between treatment parameters early in the trial period for participants in the SNL arm of the LEAD study and time to develop late AMD during the 3-year trial duration was examined. Parameters included treatment energy at the baseline and 6-month visits and the number of laser spots visible on fundus autofluorescence (FAF) imaging taken at 6 and 12 months (taken as a proxy measure of early, adequate delivery of the laser treatment at the baseline and 6-month visits, respectively).

Subthreshold Nanosecond Laser in Age-Related Macular Degeneration: Observational Extension Study of the LEAD Clinical Trial.

Purpose: To evaluate the long-term effect of subthreshold nanosecond laser (SNL) treatment on progression to late age-related macular degeneration (AMD).

Design: Observational extension study of a randomized, sham-controlled trial.

Participants: Two hundred twelve participants with bilateral large drusen.

Subthreshold Nano-Second Laser Treatment and Age-Related Macular Degeneration.

The presence of drusen is an important hallmark of age-related macular degeneration (AMD). Laser-induced regression of drusen, first observed over four decades ago, has led to much interest in the potential role of lasers in slowing the progression of the disease. In this article, we summarise the key insights from pre-clinical studies into the possible mechanisms of action of various laser interventions that result in beneficial changes in the retinal pigment epithelium/Bruch's membrane/choriocapillaris interface.

Secondary and Exploratory Outcomes of the Subthreshold Nanosecond Laser Intervention Randomized Trial in Age-Related Macular Degeneration: A LEAD Study Report.

Purpose: To evaluate the secondary and exploratory outcomes of the Laser Intervention in Early Stages of Age-Related Macular Degeneration (LEAD) study, a 36-month trial of a subthreshold nanosecond laser (SNL) treatment for slowing the progression to late age-related macular degeneration (AMD) in its early stages.

Design: Multicenter, randomized, sham-controlled trial.

Participants: Two-hundred ninety-two patients with bilateral large drusen.

Younger siblings, C-reactive protein, and risk of age-related macular degeneration.

In this study, we examined the relationship between exposure to siblings and 1) the risk of age-related macular degeneration (AMD) and 2) C-reactive protein levels. We retrospectively analyzed pooled cross-sectional data from 2 studies: the Cardiovascular Health and Age-Related Maculopathy Study (2001-2002) and the Age-Related Maculopathy Statin Study (2004-2006). Associations between number of siblings and AMD were assessed by using multinomial logistic regression.

Mitochondrial oxidative phosphorylation compensation may preserve vision in patients with OPA1-linked autosomal dominant optic atrophy.

Autosomal Dominant Optic Atrophy (ADOA) is the most common inherited optic atrophy where vision impairment results from specific loss of retinal ganglion cells of the optic nerve. Around 60% of ADOA cases are linked to mutations in the OPA1 gene. OPA1 is a fission-fusion protein involved in mitochondrial inner membrane remodelling.

Does acute loss of vision in autosomal dominant optic atrophy occur early in childhood?

Purpose: In contrast to Autosomal dominant optic atrophy (ADOA), acute loss of vision is normally observed in Leber's hereditary optic neuropathy (LHON) patients. We present a case of a young child with ADOA with a confirmed OPA1 mutation who appeared to have had an acute visual loss in the third year of life.

Methods: Differentiating between ADOA and LHON requires careful documentation of visual symptoms, family history, clinical examination and genetic testing if available.

Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations.

Purpose: We identified families with autosomal dominant optic atrophy (ADOA), determined the number and type of OPA1 mutations, and investigated the phenotypic variation and penetrance in ADOA Australian pedigrees.

Design: Cross-sectional genetics study.

Methods: Probands were identified on the basis of characteristic clinical features of ADOA.

Chromosomal abnormalities and glaucoma: a case of congenital glaucoma with trisomy 8q22-qter/ monosomy 9p23-pter.

Purpose: To present a case of congenital glaucoma with an unbalanced translocation trisomy 8q22-qter/monosomy 9p23-pter, resulting in trisomy of the GLC1D locus. To perform a literature review of chromosomal abnormalities associated with glaucoma.

Method: A case report of a family with balanced translocation without glaucoma and unbalanced translocation with congenital glaucoma.

Novel ophthalmological features in hereditary endotheliopathy with retinopathy, nephropathy and stroke syndrome.

The ophthalmic features are reported of a member of an Australian pedigree with three affected individuals spanning two generations with a hereditary endotheliopathy syndrome resulting in retinopathy, leukoencephalopathy and nephropathy. The index case initially presented with asymptomatic retinopathy, cerebral microvascular disease, nephropathy and raised inflammatory markers. The clinical, neuro-radiological, biochemical and histopathological findings in this patient are consistent with a diagnosis of hereditary endotheliopathy, retinopathy, nephropathy and stroke (HERNS).