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A 6-month-old infant is noted to have roving eye movements (nystagmus), does not fix on objects, and has a normal fundus exam. Parents report he presses on his eyes frequently (oculodigital sign). An electroretinogram (ERG) is non-recordable.
AR (most); >25 genes including RPE65, GUCY2D, CEP290, CRB1
- Severe visual impairment from birth or early infancy
- Nystagmus, sluggish or absent pupillary responses
- Oculodigital sign (eye pressing/poking)
- ERG: severely reduced or absent
- Fundus: may be normal early, later pigmentary changes
- Electroretinogram showing a severely reduced or non-recordable response is the hallmark finding
- Dilated fundus exam (often normal early, with later pigmentary retinopathy) plus OCT to assess retinal structure
- Molecular gene-panel testing (RPE65, GUCY2D, CEP290, CRB1, and others) is essential to identify treatable genotypes
- Voretigene neparvovec (gene therapy) for RPE65 variants
Amaurosis means "dark" in Greek (as in your vision goes dark).