You searched for "genetics"
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...
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’.
Neurofibromatosis type 2 – diagnosis, features and MDT approach
1 December 2021
| Jincy Kurian
|
EYE - Orbit, EYE - Vitreo-Retinal, EYE - Cataract, EYE - Refractive, EYE - General
NF2 is a genetic condition caused by mutation in a single gene (NF2 gene) on chromosome 22. The NF2 gene provides instructions to produce a protein called merlin, also known as schwannomin. This protein functions as a tumour suppressor, preventing...
7th European Aniridia Conference
31 May 2024
-2 June 2024
The European Aniridia Conference is a biannual conference that brings together researchers, practitioners and diagnosis carriers to share the latest scientific know-how, experiences and ideas about the rare genetic condition aniridia and aniridia-related diseases.
Genetic analysis of choroideremia families
1 February 2016
| Anjali Gupta
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EYE - Vitreo-Retinal
Choroideremia (CHM) is a rare X linked recessive chorioretinal dystrophy. Symptoms include nyctalopia and progressive peripheral field loss. Female carriers may have mild symptoms. Choroideremia is known to be caused by a mutation in the CHM gene. A multicentre human...
Online retinoblastoma surveillance tool
7 December 2020
| Annes Ahmeidat
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EYE - Pathology, EYE - Oncology
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Familial relationship, Genetics, Retinoblastoma, Surveillance
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...
UK Paediatric Glaucoma Society Annual Meeting 2025
24 January 2025
by Hussain Aluzri, Junior Glaucoma Cinical Research Fellow, Birmingham Midland Eye Centre, UK. The UKPGS 2025 conference was another resounding success, held on 24 January 2025 at the Cavendish Conference Centre, London. The event commenced with an opening address by...
Germline mutation risk in solitary unilateral retinoblastoma
This study aimed to determine the true risk for germline mutation in a child presenting with solitary unilateral RB and whether this risk differs by age at presentation. This was a retrospective review of 482 cases from 1972-2020. Age groups...
Patient-reported outcomes in oculoplastic surgery
This is an important if somewhat difficult to grasp article which tries to formally address the subject of patient-reported outcomes in oculofacial surgery. The authors have conducted an extensive review of the literature searching for instruments (questionnaires) which have been...
Ophthalmology
1 June 2019
| Shirley Hancock
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EYE - Cataract, EYE - Cornea, EYE - General, EYE - Glaucoma, EYE - Imaging, EYE - Neuro-ophthalmology, EYE - Oculoplastic, EYE - Oncology, EYE - Orbit, EYE - Paediatrics, EYE - Pathology, EYE - Refractive, EYE - Strabismus, EYE - Vitreo-Retinal
The textbook is a large, single volume that ideally needs to be desk or table-supported, as its sheer weight makes it virtually impossible to rest comfortably on ones lap. The book is compiled by its two lead authors and editors...
