Information and support
How to see a genetic eye specialist?
Coping with sight loss
Eye Clinic Liaison Officers (ECLOs)
Education and learning
Family support service (FSS)
Registration for sight impairment
Charles Bonnet Syndrome (CBS)
Driving and alternative transport
Genetics basics and inheritance pattern
Genetic counselling and genetic testing: for patients
Genetic counselling: for professionals
Clinical genetic testing: for professionals
Microphthalmia, anophthalmia, coloboma (MAC) and aniridia
Cataract and lens associated
Anterior segment dysgenesis including glaucoma
Therapies under research
Searching for current research or trials
Research Opportunities At Moorfields
Alström Syndrome: for professionals
Alström syndrome is a rare multisystemic disease due to pathogenic variants in the ALMS1 gene. It is characterised by early onset cone-rod dystrophy (usually in childhood), progressive sensorineural hearing loss, childhood-onset obesity and metabolic disorder, and dilated cardiomyopathy. Other features may be present as well.
Cone/Cone-rod dystrophy: for professionals
Cone or cone-rod dystrophies encompasses a group of progressive inherited retinal dystrophies characterised by predominant impairment of cone-mediated vision. This may be accompanied by rod dysfunction. It can be an isolated phenotype or associated with systemic features (Alstrom syndrome and Bardet-Biedl syndrome).
Cone/Cone-rod dystrophy: for patients
Cone dystrophy and cone-rod dystrophy describe a group of inherited retinal disease that primarily affects of the normal cone photoreceptors of the retina. This results in reduced central vision and difficulty in recognising colours.
Stargardt disease: for patients
Stargardt disease is the most common form of inherited macular degeneration. It is caused by mutations in the ABCA4 gene, resulting in progressive vision.
Next Page »