| Main clinical features
|
progressive impairment of night vision and bilateral progressive decrease in visual acuity
hyperopia, normal-sized cornea, shallow anterior chamber, reduced axial eye length, increased scleral thickness, optic disc drusen, extinguished rod responses with moderate to severe damage in cone responses on ERG, and foveoschisis and absence of foveal pit on OCT
electrophysiology results showed rod-cone dystrophy with mild to moderate reduction in macular function (PMID: 20361016))
electroretinographic and fluorangiographic studies demonstrated a retinal dystrophy compatible with retinitis pigmentosa; ultrasound examination showed nanophthalmos (eye axial length <15 mm) and optic disc drusen while optical coherence tomography evidenced cystoid macular edema (PMID: 19753314)) |