Retinal dystrophies and degenerations

Abstract

Retinal dystrophies comprise of a broad group of disorders which affect the retina and often lead to significant vision loss. This group of inherited diseases is characterised by progressive photoreceptor loss. The underlying genetic defect has been identified in many of these conditions, leading to a better understanding of the pathogenesis and the possibility of novel therapy. The high resolution of spectral domain optical coherence tomography (SD-OCT) images allows detailed examination of the retinal structure in many diseases. Detailed examination by SD-OCT offers much better ability to correlate with symptoms and progression, compared to fundus examination alone.