cone-rod dystrophy 22

A cone-rod dystrophy that is characterized by loss of central vision due to cone photoreceptor degeneration, with onset of symptoms ranging from the first to fifth decades of life and that has_material_basis_in homozygous mutation in the TLCD3B gene on chromos

A cone-rod dystrophy that is characterized by loss of central vision due to cone photoreceptor degeneration, with onset of symptoms ranging from the first to fifth decades of life and that has_material_basis_in homozygous mutation in the TLCD3B gene on chromosome 16p11.

Signs and symptoms

• Reduced visual acuity
• Hypoautofluorescent retinal lesion
• Photophobia
• Hyperautofluorescent macular lesion
• Perifoveal ring of hyperautofluorescence
• Absent foveal reflex
• Bull's eye maculopathy
• Undetectable pattern electroretinogram
• Retinal pigment epithelial atrophy
• Attenuation of retinal blood vessels