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Leber Congenital Amaurosis
Main Features
- Congenital or Early infancy non-syndromic retinal blindness
- Searching Nystagmus
- Abnormal pupil reponses
- “oculodigital sign”- digital eye pressure to induce retinal response
- Initially normal fundus appearance followed by pigmentary changes in the retina, vascular attenuation and peripheral pigmentary changes in the retina
- Bone spicules in macula and periphery
- Loss of retinal lamination and photoreceptor loss
- Exudative type retinopathy in CRB1-assoicated disease
- RPE65-related disease usually has milder peripheral RPE mottling and white dots
- Disc drusen or pseudopapilledema
Distinguishing Features
- Severe visual impairment from birth or first few months of life
- Fundus appearance
- may be normal
- Vessel attenuation, disc pallor, peripheral retinal pigmentation
- ERG is undetectable
Differential Dx
- Unordered List Item