Choroideremia is a rare X-linked disease which causes degeneration of the retina and choroid layers of the eye over time.

Gene therapy works by replacing the defective mutated gene in the affected cells with a normal healthy copy, primarily in inherited retinal disorders.

Choroideremia is an X-linked recessive chorioretinal dystrophy caused by mutation in the CHM gene.

LCA/EOSRD form part of a spectrum of inherited retinal dystrophies that cause severe visual loss at an early age. There is now an approved retinal gene therapy called Luxturna for patients with RPE65 mutations.

LCA describes a group of inherited retinal conditions that cause severe sight impairment or blindness from birth. There is now an approved treatment called Luxturna for patients with RPE65 mutations.

Retinitis pigmentosa is the most common form of inherited retinal degeneration worldwide. It causes progressive but permanent visual impairment. Patients typically experience night blindness and blind spots in their side vision initially, progressing to central visual disturbance later on, causing difficulties in tasks like reading and watching TV.

Optogenetics is technique whereby retinal cells that usually do not have light-detection ability are able to detect light and restore some level of vision. This is achieved by delivering genes coding for the light-detecting protein, opsin to these cells.

Achromatopsia is a predominantly stable/slowly progressive retinal dystrophy characterised by the lack of function in all three classes of cone photoreceptors (S-cones, M-cones and L-cones) from birth or early infancy.

Treatment centres in the UK currently offering Luxturna treatment under the NHS.

X-linked retinoschisis is one of the most common form on juvenile-onset retinal dystrophies affecting male adolescents. It is caused by pathogenic mutations in the RS1 gene, causing foveal schisis and slow visual deterioration. Retinal detachment and vitreous haemorrhage are known complications.