Accepted at 10:13 p.m. Jan, 26, 2024 by Cameron
Author: kiler129
Related Note: 1582844606429
Rationale for change

Add abbriviation for OCA

Text Text
Extra
vs. ocular albinism which is X-linked recessive

Presents with:
- White skin and hair
- Translucent iris
- Absent/hypoplastic fovea
- ↓ optic nerve development

Iris transillumination:

Photo credit: Power et al., CC BY 4.0, via Orphanet Journal of Rare Diseases

Foveal hypoplasia:

Photo credit: Sajid et al., CC BY 4.0, via MDPI Genes
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!AK_UpdateTags::Step1decks::Zanki-Step-Decks::Zanki-Biochemistry::Molecular,Cellular,Genetics #AK_Original_Decks::Step_1::Zanki_Step_Decks::Zanki_Biochemistry::Molecular,_Cellular,_Genetics #AK_Step1_v12::#SketchyBiochem::01_Metabolism::02_Amino_Acids_&_Proteins::03_Catecholamine_Synthesis_&_Degradation #AK_Step1_v12::^Other::^HighYield::4-LowerYield #AK_Step1_v12::#FirstAid::11_Musculoskeletal_Skin_and_Connective_Tissue::03_Derm::06_Pigmented_skin_disorders::01_Albinism #AK_Step1_v12::#SketchyBiochem::05_Clinical_Genetics::07_Autosomal_Recessive_Diseases::01_Autosomal_Recessive_Diseases #AK_Step1_v12::#FirstAid::01_Biochem::06_Metabolism::28_Catecholamine_synthesis/tyrosine_catabolism #AK_Step1_v12::#UWorld::COMLEX::27571 #AK_Step1_v12::#UWorld::Step::21305 #AK_Step1_v12::#AMBOSS::-IaD2N #AK_Step1_v12::^Systems::Biochem::AKadds #AK_Step1_v12::#OME::PreClinical::Biochemistry #AK_Step1_v12::$AnKingAdds::FA2020::Biochem #AK_Step1_v12::#Bootcamp::Biochemistry::10_Protein_Metabolism::06_Clinical_Implications_of_Phenylalanine_Metabolism:_Alkaptonuria_and_Albinism #AK_Step1_v12::#AMBOSS::zdarsj