You searched for "genetic"
Septo-optic dysplasia – a case note review
2 August 2024
| Claire Howard
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EYE - Neuro-ophthalmology
Septo-optic dysplasia (SOD) is a congenital disorder belonging to the midline brain malformation group. The condition manifests as a classical triad, including optic nerve hypoplasia (ONH), agenesis of midline structures (absent septum pel-lucidum and agenesis of the corpus callosum), and...
Leber’s hereditary optic neuropathy outcomes in an Indian population
A large cohort study in an Indian population is presented, with clinical and genetic profile analysis of patients with Leber’s hereditary optic neuropathy (LHON) treated over a five-year period. The study included 157 patients; 143 male, 14 female (10.2:1 ratio)...
Familial Mediterranean Fever and keratoconus
This retrospective case control study was conducted in the Genetic Diagnostic Centre in Turkey. It examined the prevalence of keratoconus in two groups; patients with Familial Mediterranean Fever (FMF) and age matched controls free of FMF, who were tested for...
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...RSM (Royal Society of Medicine) Squint Forum 2023
14 December 2023
This year’s annual Squint Forum meeting will be split into three sections. We will firstly examine Paediatric medical retina – with a focus on current research, genetics and ROP.
insitro and UK’s INSIGHT at Moorfields Eye Hospital announce collaboration to expand research efforts in neurodegeneration and related conditions
The world’s largest bioresource of eye images offers window into human health and serves as basis of a new AI foundation model to boost drug discovery. insitro, a machine learning-enabled drug discovery and development company, and the INSIGHT Health Data...Breakthroughs in the genetics of angle-closure glaucoma
1 April 2017
| Sancy Low, Paul J Foster (Prof)
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EYE - Glaucoma
Angle closure glaucoma (ACG) is not widely known to be a familial condition, yet the recent explosion of genetic data and large scale genome wide investigations have confirmed at least 13 genetic loci associated with ACG [1], and provided some...
Differences of the anterior segment parameters in children with Down syndrome
This cross-sectional study was designed in order to demonstrate the differences in anterior segment parameters in children with trisomy 21. This is important as it may impact on surgical planning when undertaking procedures in the anterior segment such as corneal...
Microvascular disease in Alport syndrome
The authors present the findings of a retrospective case-control observational study on increased microvascular disease in individuals with Alport syndrome recruited over a 21-year period. They recruited 28 males and 28 females with X-linked Alport syndrome (XLAS) and eight men...
Driving with retinitis pigmentosa
4 December 2023
| Ian Reekie
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EYE - Vitreo-Retinal
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Inherited retinal disease, driving standards, retinal dystrophy, retinal imaging, retinitis pigmentosa, visual field testing
The authors present a study of 228 consecutive patients with a clinical or genetic diagnosis of retinitis pigmentosa. Data was collected prospectively between January 2012 and October 2022 in Perth, Australia. The study aimed to determine the proportion of patients...
Retinoblastoma management update (part 1): clinical features, diagnosis and genetics
1 January 2017
| Manoj V Parulekar
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EYE - Oncology
The first of a two part series, this article will discuss the clinical features, diagnosis and genetic aspects of retinoblastoma. Manoj Parulekar is based at Birmingham Children’s Hospital, one of the two designated national retinoblastoma and paediatric ocular oncology treatment...
Ovarian hormones drive onset of Sjogren’s disease in mice
1 December 2014
| Graham Wallace
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EYE - Cornea, EYE - General
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Sjögren’s Syndrome, lacrimal glands, sex hormones, cytokines, anti-Ro/SSA, anti-La/SSB, NOD.B10.H2b
Sjogren’s syndrome (SS) is a debilitating, sight-threatening, systemic autoimmune disease with no effective treatment available. SS is characterised by lacrimal gland lymphocytic infiltration and epithelial cell death, as well as by the presence of serum autoantibodies. Patients have severe dry...
