You searched for "genetic"
Blind Faith: In Conversation with Mariya Moosajee
16 August 2023
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EYE - General
In light of the BBC releasing Blind Faith: Do genetic eye disease ‘treatments' work? earlier this year, a documentary which follows BBC journalist Ramadan Younes as he investigates practitioners who falsely claim to have ‘treatments’ for genetic eye disease, Eye...
Assessing and treating achromatopsia
This literature review considers clinical characteristics (pendular nystagmus, poor visual acuity, lack of colour vision and marked photophobia), genetics (autosomal recessive disease, with CNGA3, CNGB3, GNAT2, PDE6C, PDE6H and ATF6 gene mutations), diagnostic options (OCT and fundus auto fluorescence), and...In conversation with Denize Atan (UK-EGG)
24 May 2022
We spoke to Denize Atan, co-president of the UK Eye Genetics Group, about their upcoming meeting in June, and her recent session entitled ‘Neuro-ophthalmology Nightmares’.
Morning glory syndrome associated with PHPV
1 February 2014
| Jonathan Chan
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EYE - Glaucoma
This is a retrospective review of the medical records of 85 eyes / 74 patients diagnosed as morning glory syndrome (MGS) in the clinic between November 2009 and November 2012. Twenty two eyes of 19 patients diagnosed as having MGS...
New genomic test saves Moorfields patient’s sight
Moorfields patient Ellie Irwin’s stubborn and debilitating eye inflammation was successfully treated as a result of a new metagenomic service identifying the cause of this as a rare infection. In 2019, Ellie first got symptoms of uveitis, a condition characterised...
The Sclera and Systemic Disorders (3rd Edition)
An interesting historical introduction captures the reader’s attention as the journey begins into exploring the peculiarities and pathologies of ‘dura tunica of Vesalius’, a term coined by anatomists of the middle ages. This refers to what we today identify as...
A possible biomarker for diabetic retinopathy
1 August 2017
| Graham Wallace
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EYE - Vitreo-Retinal
Diabetic retinopathy (DR) is the most common form of diabetic eye disease, characterised by exudates, microaneurysms and haemorrhage. Early diagnosis is crucial for preventing visual loss. The risk of developing diabetic retinopathy is known to increase with age as well...
Case report of Leber hereditary optic neuropathy (LHON)
1 October 2016
| Claire Howard
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EYE - Neuro-ophthalmology
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Central scotoma, Leberhereditary optic neuropathy, macular hole
This case report presents a 74-year-old male patient who developed LHON, with a previous diagnosis of bilateral macular holes. LHON occurs predominantly in healthy young men and onset in older age ranges increases the likelihood that the patient will have...
Update on primary angle closure glaucoma
1 June 2016
| Bheemanagouda Patil
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EYE - Glaucoma
This review article considers primary angle-closure glaucoma which is responsible for half of glaucoma-related blindness worldwide. Angle closure is characterised by appositional contact between the iris and trabecular meshwork. It tends to develop in eyes with shallow anterior chambers, anteriorly...
A case report of visual loss as a consequence of coeliac disease
1 June 2016
| Claire Howard
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EYE - Neuro-ophthalmology
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Calcification, coeliac, occipital, visual loss
The authors present a case of permanent visual loss secondary to occipital lobe calcification in coeliac disease, the first reported such case. The 58-year-old man had been diagnosed with coeliac disease 20 years prior to his visual investigations and had...
ABCA1 mediates lipid efflux in the retina
1 June 2018
| Graham Wallace
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EYE - Vitreo-Retinal
Age-related macular degeneration (AMD) is the leading cause of blindness in the elderly population. There are two forms of AMD, dry and wet, the latter so named because of the presence of choroidal neovascularisation. Both forms lead to retinal pigment...
