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Information for healthcare professionals: Genetic testing and counselling in inherited retinal disease

Retinal transplantation studies

Several groups around the world are investigating the use of retinal transplantation in the treatment of inherited retinal diseases.

Autosomal recessive inheritance

Autosomal recessive inheritance means that the faulty gene is on an autosome (any chromosome other than the sex chromosomes) and that both copies need to be faulty to cause sight loss

A man looking into an eye examination device

Refsum syndrome

In Refsum Syndrome, visual impairment is accompanied by hearing loss, neurological problems, heart problems, dry or flaky skin, loss of sense of smell, and oddly shaped red blood cells.