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| Both sides previous revision Previous revision Next revision | Previous revision | ||
| achromatopsia [2025/12/01 17:00] – Scott Larson | achromatopsia [2025/12/01 17:17] (current) – [Resources] Scott Larson | ||
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| ====== Achromatopsia ====== | ====== Achromatopsia ====== | ||
| - | FIXME | + | |
| ====Main Features==== | ====Main Features==== | ||
| * Reduced vision due to lack of functioning cones | * Reduced vision due to lack of functioning cones | ||
| Line 19: | Line 19: | ||
| * normal ROD function- normal dark adapted dim and bright flash waveforms | * normal ROD function- normal dark adapted dim and bright flash waveforms | ||
| ====Differential Dx==== | ====Differential Dx==== | ||
| - | * Unordered List Item | + | * [[congenital_stationary_night_blindness|Congenital Stationary Night Blindness]] |
| + | * [[leber_congenital_amaurosis|Leber Congenital Amaurosis]] | ||
| + | * [[retinitis_pigmentosa|Retinitis Pigmentosa]] | ||
| + | * Idiopathic Nystagmus Syndrome | ||
| ====Pathogenesis==== | ====Pathogenesis==== | ||
| + | * 1 in 30,000 live births | ||
| + | * Recessively inherited mutation in a gene that codes for a part of the cone phototransduction pathway. | ||
| + | * 70-80% from mutations in the following genes: CNGA3 and CNGB3 | ||
| + | * 1-2% from mutations in GNAT2, PDE6C, PDE6H, ATF6 | ||
| ====Treatment==== | ====Treatment==== | ||
| + | * Supportive care | ||
| + | * Sunglasses | ||
| ====Resources==== | ====Resources==== | ||
| + | - [[https:// | ||
| + | - [[https:// | ||
| + | |||
| {{tag> | {{tag> | ||