Autosomal Dominant Retinitis Pigmentosa

These pictures capture the appearance of the fundus of a female patient with autosomal dominant retinitis pigmentosa (RP). RP is a collection of diseases that damage rods and cones. RP comes in various genetic forms; it may be autosomal dominant, autosomal recessive, or x-linked. Current literature suggest that mutations of 25 different genes can lead to autosomal dominant RP. If the rods are affected first, then symptoms include tunnel vision and loss of night vision. If the cones are affected first, the symptoms include diminished central vision, color perception and visual acuity. The turquoise arrows indicate retinal hyperpigmentation in the shape of bone spicules. The arteries are narrow (red arrow). Her family history indicates inheritance through her father. Her father, paternal uncle, and sister have RP. Additionally, her sister’s son as well as her oldest son have RP. The optical coherence tomography shows loss of the photoreceptor layer (yellow arrows).