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.