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Dysmorphology Eye

Includes periorbital region too

Landmarks 1. Upper eyelid (above pupil) 2. Lower eyelid (lower margin of iris) 3. Inner canthus 4. Outer canthus 5. Palpebral fissure 6. Eyebrows
Examination 1. Spacing 2. Slant 3. Sclera 4. Position of eyelid 5. Depth of globe 6. Clarity of cornea and lens 7. Location and shape of pupil (light reflexes) 8. Extraocular movements
Examination: Spacing 1. Inner canthal distance (an eye-an eye-an eye) 2. Outer canthal distance 3. Palpebral fissure length 4. Interpupillary distance
Examination: Slant 1. Imaginary line thru inner and outer canthus 2. Outer canthus >2mm above line=upslanting palpebral fissures 3. Outer canthus >2mm below line=downslanting palpebral fissures
Examination: Sclera 1. Look at color 2. Setting-sun sign=sclera seen above iris (increased ICP)
Examination: Position of eyelid 1. Ptosis 2. Seen in CNIII palsy & muscle weakness 3. Unilateral is usually traumatic
BPES 1. Blepharophimosis (small palpebral fissures) 2. Ptosis 3. Epicanthus inversus (skin from lower eyelid covers inner canthus)
Minor variant 1. Inner epicanthic fold 2. Upslanting/downslanting fissures 3. Almond-shaped eyes 4. Synophrys 5. Refractive errors 6. Blue sclera 7. Iris color 8. Coloboma
Refractive errors 1. Myopia (near-sighted) 2. Hyperopia (Far-sighted) 3. Astigmatism
Iris color 1. Polygenic trait 2. Any combination possible, irrespective of parental iris colors 3. Heterochromia (Waardenburg)
Minor anomalies 1. Ptosis 2. Entropion 3. Ectropion 4 Lacrimal duct stenosis/atresia 5. Brushfield spots 4. Pterygium (triangular fibrous growth)
Entropion 1. In turned lower lid with lashes into cornea 2. Can cause corneal abrasion, ulcers and scarring
Ectropion Out turned lower lid
Deformations 1. Enopthalmus 2. Exopthalmus 3. intraocular/orbit tumor
Enopthalmus 1. Deep set eyes 2. Can be due to loss (nutritional deficiency)
Exopthalmus 1. Protruding eyes 2. Can be due to edema of the retro-orbital fat pad (thyrotoxicosis) 3. Seen in Crouzon/Apert due to carionsynotosis
Disruptions 1. Amniotic bands 2. Retinitis pigmentosa (tunnel vision) 3. Invading malignant tumors (retinoblastoma) 4. Buphthalmus
Buphthalmus 1. Abnormally narrow angle between cornea and iris 2. Blocks outflow of aqueous humor 3. Increased intraocular pressure and enlarged eyeball
Dysplasias 1. Cataracts 2. Corneal opacity 3. Albinism 4. Lish nodules
Cataracts 1. Galactosemia 2. Galactos-1-phosphate uridyltransferase deficiency 3. AR 4. Dammage caused by accumulation of galactitol in lens 5. FTT, jaundice, MR, hepatolsplenomegaly
Corneal opacity 1. Hurler 2. alpha-I-Iduronate deficiency 3. AR 4. DD, airway obstruction
Albinism 1. Oculocutaneous albinism (AR) 2. Ocular albinism (XL)
Malformations 1. Hypertelorism (>3 SD) 2. Hypotelorism (<3 SD) 3. Telecanthus 4. Short palpebral fissures (FAS) 5. Cleft of the eyelids 6. Anopthalmia/microthalmia 7. Colobomas 8. Optic nerve hypoplasia 9. Aniridia (WAGR) 10. Lens dislocation 11. Epibulbar dermoids
Telecanthus 1. Laterally displaced inner canthi 2. Sclera medial to iris is visibly reduced 3. Can be mistaken for strabismus
Lens dislocation 1. Up=Marfan 2. Down=Homocysteinuria
Epibulbar dermoids 1. Mixed tissue tumors on sclera 2. Goldenhar
Strabismus 1. Eye crossing 2. Inward=esotropia 3. Outward=exotropia
Created by: kwilliams0228
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