DNA is the blueprint that determines how we are made, and consists of many different genes, which are essentially “recipes” . The complex development and functioning of the eye relies on many different genes to produce normal proteins. A mistake, a bit like a typo, in any one of the eye genes may result in abnormal development or functioning of the eye. The inherited retinal dystrophies, including Retinitis Pigmentosa, are a large group of progressive inherited disorders in which the normal functioning and structure of the retina is affected.
The Genetic Eye Examination
Dr Vincent provides one hour genetic consultations, which include a full history (including family tree) and eye examination. Probable diagnosis, prognosis, and modes of inheritance are discussed and risks to children or siblings. Gene testing is available for many conditions and the reasons for obtaining a genetic diagnosis are discussed. These include prognosis, family screening, family planning and the possibility of treatment options on the horizon.
The colour photo shows a wide field image of the right retina in a patient with a rod-cone retinal dystrophy, showing attenutation of the blood vessels, a pale optic nerve and atrophy of the peripheral retina and bone spicule pigmentation. The other photo (black and white) is a fundus autofluoresence image of the same eye demonstrating increased hyperfluoresence (brighter areas) in photoreceptors that are stressed and decreased fluoresence in areas where the photoreceptors have died.