Retnitis Pigmentosa comprises a heterogeneous group of retinal disorders with progressive deterioration of both rod and cone photoreceptors. Etiologically, the disorder can be classified as a cone-rod dystrophy caused by apoptotic changes in the photoreceptor cells of the eye. For more clinical information, please see the CTGA record on Retinitis Pigmentosa.
The RP38 phenotype is one of childhood onset rod-cone dystrophy with early macular atrophy. In addition, the Optical Coherence Tomography (OCT) appearance is also distinctive, with a loss of photoreceptors and hyper-reflective bodies, along with a wave like appearance of the innermost neurosensory retina.