retinitis pigmentosa 100

A retinitis pigmentosa characterized by the onset of night blindness in childhood or young adulthood, followed by progressive visual field constriction and that has_material_basis_in compound heterozygous mutation in the TBC1D32 gene on chromosome 6q22.

Signs and symptoms

• Constriction of peripheral visual field
• Spicular pigmentation of the retina
• Nyctalopia
• Hypoautofluorescent retinal lesion
• Reduced visual acuity
• Undetectable light- and dark-adapted electroretinogram
• Optic disc pallor
• Attenuation of retinal blood vessels
• Perifoveal ring of hyperautofluorescence
• High myopia