The clinical presentation, disease severity and progression of RP2-associated RP is variable. Several key features are commonly observed:
• Early-onset night blindness
• Rapid decline in visual acuity
• Early macular atrophy and central retinal atrophy
• Progressive loss of peripheral vision
• Color vision defects
• Outer retinal atrophy and photoreceptor loss
• High myopia
• Severe rod-cone dysfunction with reduced or absent ERG responses
• Optic disc drusen
• Fundus changes including bone spicule pigmentation, attenuated retinal vessels, and waxy pallor of the optic disc
• Cataracts
RP2-associated RP is an X-linked disorder and therefore primarily affects males. Female carriers of RP2variants can be asymptomatic, mildly affected or show a range of clinical symptoms of the disease.
RP2