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Dysmorphology Eye
Includes periorbital region too
| Question | Answer |
|---|---|
| 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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