The Current Embryology of the Orbit
Learning Objective: The reader will understand the embryology of the orbit and how this relates to the developmental variations that occur.
Keywords: AIPL1 = aryl hydrocarbon receptor interacting protein-like 1; AMD = age-related macular degeneration; ANG = angiopoietin; BF = boron fluoride, a triggering protein of the alternative pathway of complement activation; BMP = bone morphogenic protein; CHORDIN = a bone morphogenetic protein antagonist; CHST = carbohydrate sulfotransferase 6 enzyme; CHX = paired-type homeodomain protein; CNG = cone cell cyclic nucleotide-gated ion channel; CRB = Crumbs family member 1 for photoreceptor morphogenesis; CRX = cone-rod homeobox gene; CRYAB = alpha-crystallin B chain protein CRX; CX = lens specific connexins; CYP1B1 = cytochrome P450 Family 1 Subfamily B Member 1 the CYP1B1 gene provides instructions for the cytochrome P450 superfamily of enzymes; CYP4V2 = the CYP4V2 gene provides instructions for the cytochrome P450 superfamily of enzymes; D1S = a short tandem repeat marker; DAN = deadenylating nuclease, a negative regulator of Nodal signaling; EFTF = eye field transcription factor; EGFR = signaling pathway; ET = endothelin, a secreted signaling peptide; EYA= eyes absent homolog, a transcription factor; FERM = domain is a widespread protein module involved in localizing proteins to the plasma membrane; FGF = fibroblastic growth factor; FOX = forkhead box transcription factor; FOXE3 = forkhead box E3 gene this is a part of the FOX gene family; FRMD = FERM domain-containing protein; GATA30F04 = a complement regulatory gene locus which can predispose people to degenerative myopia; GCD = granular dystrophy; GH = glycoside hydrolase, a family of proteins; GUCY2D = guanylate cyclase 2D, a membrane (retina) specific gene; HES = hairy and enhancer of split-1 bHLH transcription factor suppressor; HESX = mutations in this homeobox gene Hesx1 are associated with septo-optic dysplasia in humans; HF1 = a gene factor which encodes a major inhibitor of the alternative complement pathway, and it is associated with the risk for age-related macular degeneration; HSF = heat shock transcription factor; KRT = KRT family of genes provide instructions for making proteins keratins; LCA = Leber congenital amaurosis; LCD = lattice dystrophy; LHX = a homeobox gene that functions as a transcriptional regulator; LIM = lens intrinsic membrane protein; LMX1B = LIM homeobox transcription factor 1β; MAF = transcription factor Maf also known as proto-oncogene c-Maf; MIP = major intrinsic protein encodes lens fiber major intrinsic protein; MIS1 = gene encodes mitochondrial C (1)-tetrahydrofolate synthase; MITF = microphthalmia-associated transcription factor; MT-ND = mitochondrial DNA mutation site; ND = Norrie disease; NDP = Norrie disease pseudogliomas gene; NOGGIN = a BMP antagonist involved in many forms of embryonic development; NOTCH = a transmembrane receptor for Delta and Serrate, mediating cell‐cell interactions; NYS = nystagmus; NYS1 = nystagmus 1 gene encodes for X-linked idiopathic congenital nystagmus; OTX = a homeobox protein; PAX = paired box protein; PHPV = persistent hyperplastic primary vitreous; PIP5K3 = Arabidopsis thaliana gene encodes PIP5K3 1-phosphatidylinositol-4-phosphate 5-kinase; PITX3 = pituitary homeobox 3 transcription factor; PROX1 = prospero-related homeobox-1; RA = retinoic acid; RALDH = retinal dehydrogenase gene; RAX = retina and anterior neural fold homeobox gene; ROP = retinopathy of prematurity; RPE = retinal pigment epithelium-specific protein; RPE65 = retinal pigment epithelium-specific protein 65kDa; RPGRIP1 = ribosomal protein gene; RX = retinal and anterior neural fold homeobox gene; SHH = sonic hedgehog; SIX = the Six family genes function as transcription factors; SOH = cysteine sulfenic acid functions in redox regulation; SOX = Sry-related homeobox gene; STS = sequence-tagged site; TBX = T-box protein, a transcription factor; TGF = transforming growth factor; TGFBI = transforming growth factor β induced; TLL = tubulin tyrosine ligase; TULPL = a member of the tubby gene family; VAX = homeodomain proteins that control neuroepithelial segregation; VEGF = vascular endothelial growth factor; WNT = Wingless family of secreted signaling molecules; XL-FEVR = X-linked familial exudative vitreoretinopathy; decorin = a proteoglycan; fibrillin = a large protein that is transported outside the cell and forms the microfilaments of the extracellular matrix; follistatin = also known as activin-binding protein, functions in the binding and bioneutralization of members of the transforming growth factor β superfamily; gelsolin = actin-binding protein that is a key regulator of actin filament assembly and disassembly; mtDNA = mitochondrial DNA
Document Type: Research Article
Publication date: July 1, 2017
Neurographics is the peer-reviewed, bimonthly educational journal of the American Society of Neuroradiology. The journal comprises articles selected from material presented at the ASNR Annual Meeting. Neurographics also publishes other high-quality submissions that are primarily educational and have a high emphasis on a pictorial approach. Neurographics offers CME credit for reading review articles and completing quiz-based self-assessment activities.
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