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.
Alström syndrome: for patients
Alstrom syndrome is a rare multisystemic condition caused by mutations in the ALMS1 gene. It is characterised by progressive sight loss from cone-rod dystrophy, congenital heart problems, hearing loss, childhood-onset obesity, diabetes, kidney and liver dysfunction.