Inherited retinal diseases

Inherited retinal diseases affect millions of people worldwide, causing loss of vision in adults and children alike. In Australia, one in every 1500 children is born with an inherited retinal disease. The many diseases within this group are caused by one (or several) of thousands of known genetic anomalies in more than 270 genes.

Inherited retinal diseases are the result of an imperfection in a minuscule gene that causes an incorrect protein to be supplied to the retina. Over time this causes photoreceptor cells to die and leads to progressive loss of vision. Some rarer inherited retinal diseases affect other parts of the body, for example Usher Syndrome, which affects hearing as well as sight.

These genetic anomalies are inherited. An individual may inherit a genetic anomaly from a parent and pass it down to their own children, completely unaware of this silent genetic predisposition until a family member is diagnosed with an inherited retinal disease.

Based on current statistics the most likely diagnosis would be Retinitis Pigmentosa (RP) which is the the leading cause of youth blindness in Australia, Macular Dystrophy (MD) which affects central vision critical to daily life or Macular Degeneration (AMD), the age related form of MD, which requires both a genetic predisposition and an environmental cue before disease onset.