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10 Cards in this Set
- Front
- Back
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Signs/Symptoms:
- Visually inattentive infant - Severely reduced VA - Pendular nystagmus - Poor pupillary light response - HIGH hyperopia common - Often associated with mental retardation or deafness ERG: essential for diagnosis -- both photopic & scotopic responses are extinguished! What's the Dx? |
Leber's Congenital Amaurosis
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Fundus Appearance:
a) At birth, often normal - May have white flecks, pigment clumping, or macula pigment dysplasia b) By adolescence, 1. Pigmentary Retinopathy 2. Vessel Attenuation 3. Optic Atrophy What's the Dx? |
Leber's Congenital Amaurosis
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- Night blindness
- Variable vision loss: normal to mild loss - Color vision & VF normal - Normal fundus appearance - ERG: normal photopic response, decreased scotopic response - Inheritance: X-linked (more common), AR, or AD - Failure of communication between the rod photoreceptor outer segment and bipolar cell What's the Dx? |
Congenital Stationary Night Blindness
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Absence of functioning cones
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Achromatopsia
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Signs/Symptoms:
- autosomal recessive - vision better in DIM illumination - VA about 20/200 - complete color blindness - nystagmus - photophobia - normal fundus - HIGH hyperopia What's the Dx? |
Rod Monochromatism
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Similar presentation as Rod Monochromatism, but BETTER prognosis.
- VA 20/80 - 20/120 - some color perception - autosomal recessive What's the Dx? |
Incomplete Achromatopsia
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- Normal rod & blue cone function, but NO red & green cone function
- X-linked recessive What's the Dx? |
Blue Cone Monochromatism
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- Reduced vision
- Nystagmus - Poorly macula & fovea - Found in albinism & aniridia - May also be an isolated abnormality What's the Dx? |
Foveal Hypoplasia
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What are some retinal diseases presented in infancy?
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1. Leber's Congenital Amaurosis
2. Congenital Stationary Night Blindness 3. Rod Monochromatism 4. Blue Cone Monochromatism 5. Incomplete Achromatopsia 6. Foveal Hypoplasia |
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Nystagmus is found in which retinal diseases presented in infancy?
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1. Foveal Hypoplasia
2. Leber's Congenital Amaurosis 3. Rod Monochromatism |
