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angelletta
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What is the defect in abetaliproteinemia?
This defect leads to?
- inability to transport and absorb lipids secondary absent apoliprotein B
- inability to absorb fat soluable vit. (DEAK)
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What are ophthalmic and systemic findings in abetaliproteinemia?
- ophthalmic: RP
- night blindness
- Systemic: appears like fredrick ataxia
- acathocystosis in red blood cells
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What is the defect in Refusms disease?
Opthalmic & systemic findings?
Treatment?
- defect-Phytanic acid
- systemic-polyneurapathy
- deathness
- MR
- treatment-no animal products, milk, green veggies
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Which mucopolysaccharidoses had retina findings?
- Those with heparin sulfate stored
- Hurlers AR
- Scheie-AR
- Hunter- x-linked
- Sanfilippo-AR
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Spingolipidoses with cherry red spot
- Tay- Sachs
- Sandhoffs
- Nieman Pick- Macular halo
- Gauchers Dz
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Spingolipidoses with NO cherry red spot
Inheritance
Corneal finding
- Fabry's- X-linked dominant- corneal verticillata
- Krabbe's
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Ophthalmic features of Kearns-Sayre Syndrome
- Ophthalmoplegia
- Heart block
- Pigmentary Retinopathy
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What is the characteristic muscle biopsy of Kearns-Sayre?
ragged-red fibers
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Inheritance of Kearns-Sayre
Mitochondrial
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Drugs causing retinal changes
- Chloroquine
- Chlorpromazine
- Thioridazine -severe retinopathy
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Crystalline Retinopathy
Drug induced
O
- cmentt
- canthoxanthine
- methoxyflurane
- ethylene glycol
- nitrofuratonin
- talc
- tamoxifen
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Med causing loss of night vision
- dersferrixamine
- isotretinoin
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HIV med causing causing uveitis/hypopyon
Rifabutin
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