You searched for "genetics"
Basic and Clinical Science Course: Fundamentals and Principles of Ophthalmology 2019-2020 (updated textbooks)
The American Academy of Ophthalmology (AAO) has updated a few more books for the 2019-2020 version of their textbooks. They come with the same clean matt finish, but the colour scheme is a bright sunshine yellow instead of green. Although...
Infantile nystagmus syndrome and use of genetic testing
This review aimed to assess the clinical utility of genetic testing for individuals with infantile nystagmus syndrome. The authors define infantile nystagmus syndrome as having an onset before six months of age, binocular and conjugate. The literature search was conducted...
Effects of market competition on the price of topical eye drops in the US
The authors retrospectively examined the relationship between the number of Federal Drug Administration (FDA)-approved manufacturers and the price change of generic and branded topical eye medications based on the formulations listed in the FDA Orange Book and the National Average...
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...
Choroideremia in women
2 June 2025
| Ian Reekie
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EYE - Vitreo-Retinal
The authors report a questionnaire-based study of female carriers of choroideremia, an X-linked inherited chorioretinal dystrophy. As an X-linked condition the full clinical features are predominantly seen in men but a proportion of women suffer some morbidity, likely due to...
Genetic profiling for personalised healthcare solutions in AMD – an update
1 August 2015
| Rod McNeil
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EYE - Vitreo-Retinal
Age-related macular degeneration (AMD) is a multifactorial condition influenced by genetics and lifestyle factors (Table 1). This article outlines several recent advances in AMD genetics, as well as evolving therapeutic concepts and established practical measures for the treatment and /...
Bosch-Boonstro-Schaaff optic atrophy syndrome (BBSOAS) NR2F1 mutation
4 December 2023
| Soman Raman, Neda Qurashi, Qasim Mansoor
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EYE - Neuro-ophthalmology
An experienced ophthalmologist can make an anatomical diagnosis of childhood visual impairment based upon the surgical sieve, i.e., congenital and acquired. But an ophthalmologist cannot work in isolation to make an aetiological diagnosis – one would require the help of...
Gene therapy for inherited retinal disease: the Manchester Ocular Gene Therapy Group MDT service
4 August 2021
| Jane Ashworth, Tsveta Ivanova, Susmito Biswas, Assad Jalil, Georgina Hall, Rebecca Redmond, Graeme CM Black (Prof), William Newman, Neil Parry, Jane CB Gray, Charlotte Skitterall
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EYE - Paediatrics, EYE - Vitreo-Retinal, EYE - General
The authors describe the process set up in Manchester for the optimum delivery and assessment of a new gene therapy treatment for patients with RPE65 IRD. Inherited retinal dystrophies (IRDs) are the second commonest cause of severe visual impairment in...
Usher syndrome: an overview
Usher syndrome is the most common hereditary condition that affects both vision and hearing. It is an autosomal recessive condition characterised by retinitis pigmentosa (RP) and bilateral sensorineural hearing loss [1,2]. Usher syndrome is the cause of approximately 10% of...New webinar series on sight loss and genomic research
22 June 2021
A new webinar series highlighting the latest scientific developments and the future of research will be launched next week.
