Aseg exam 1 associations and differentiations

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Aseg exam 1 associations and differentiations
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Aseg exam 1
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  1. Epicanthal Folds Associations
    • Down Syndrome
    • Ehlers-Danlos
    • Fetal Alcohol Syndrome
    • Cri du Chat
    • Klinefelter
    • Turner's
    • Congenital ptosis
  2. Epicanthal Folds Differentiation
    Pseudoesoptropia - use Hirshburg test
  3. Epiblepharon Association
    • Astigmatism
    • keratopathy
  4. Epiblepharon Differentiation
    Entropion
  5. Microblepharon Association
    anopthalmus
  6. Ablepharon Association
    • syndactyly
    • mental retardation
    • cleft lip
    • meningoencephalocele
    • developmental abnormalities

    • special association:
    • Ablepharon-Macrostomia Syndrome (AMS) - fish mouth and underdeveloped ears
  7. Euryblepharon Associations
    • malpositioned lateral canthi
    • lateral ectropion
    • blepharophimosis
    • lagophthalmus -> exposure keratitis
    • laterally displaced lacrimal system
    • double row of meibomian glands
    • telecanthus
    • strabismus
  8. Telecanthus Associations
    • Waardenburg's syndrome
    • Fetal alcohol syndrome
    • blepharophimosis
  9. Telecanthus Differentiation
    Hypertelorism
  10. Blepharophimosis Association
    • ocular:
    • ptosis
    • epicanthus inversus
    • no levator fold
    • lateral ectropion
    • hypoplasia of superior orbital rim
    • telecanthus
    • inverted medial canthus fold
    • lacrimal abnormalities
    • depreivation ambylopia (50%)

    • Other:
    • low nasal bridge
    • mental retardation
    • infertility
  11. Blepharophimosis Differentiation
    essential blepharospasm - treat with botox
  12. Eyelid Coloboma Associations
    • lens coloboma
    • iris coloboma
    • retina coloboma
    • Treacher Collins
    • Cryptophalmus
    • Fraser Syndrome
    • Goldenhar Syndrome (most common) - upper lid coloboma epibulbar dermoid, preoricular skin tag
    • Leukocoria
  13. Congenital Upper Lid Eversion Association
    Down Syndrome
  14. Cryptophthalmus Association
    • Fraser's Syndrome
    • Cryptophthalmos-syndactyly syndrome
  15. Cryptophalmus Differentiation
    Total ankyloblepharon (pseudocrytophthalmus) - eye forms, but lids don't separate
  16. Entropion Association
    • Tarsal Kink Syndrome
    • Stevens-Johnson Syndrome
  17. Anopthalmus Associations
    • If bilateral: absence of optic chaism; corpus collosum disruption
    • microblepharon
  18. Microphthalmos Association
    • Cleft syndromes
    • Microcornea
  19. Crouzon Syndrome (Craniosynostoses) Associations
    • Exophthalmus
    • Hypertelerism
    • Apert Syndrome (closely related)
    • Shortened Femur and humerus
    • Acanthosis Nigrican (dark streaks)
    • Partial syndactyly (if Type 2)
    • V-type exotropia
    • Blue sclera
    • Aniridia
    • Cataract
    • Glaucoma
    • Coloboma
    • Megalocornea
    • Optic Nerve Hypoplasia
    • Ectopic lens
  20. Goldenhar Syndrome Association
    • Ocular:
    • epibulbar dermoid
    • upper lid coloboma
    • microphthalmus
    • microcornea
    • disc coloboma (with leucocoria)
    • strabismus
  21. Treacher Collins Syndrome Association
    Lateral lower lid coloboma
  22. Microcornea Association
    • microphthalmus
    • Iris Coloboma
    • Shallow anterior chamber angle
    • Glaucoma (closed 1st, then open 2nd)
    • Congenital cataracts
    • Riger anomaly
    • microphakia
    • optic nerve hypoplasia
    • aniridia
    • Axenfeld syndrome
    • Corectopia
    • Nystagmus
    • Papillary membrane
    • Retinopathy of Prematurity (ROP)
    • Leukoma
    • Cornea plana (poss hyperopia)
    • Weill-Marchesani syndrome
    • Waardenburg
    • Fetal Alcohol
    • Ehler-Danlos
    • Rubella
    • Trisomy 21
  23. Microcornea Differentiation
    Sclerocornea
  24. Megalocornea Associations
    • WTR astigmatism
    • Pigmentary Dispersion Syndrome - Krukenburg Spindle; Iris red light reflex on ITI
    • Neuhauser Syndrome - megalocornea; mentral retardation
    • Down syndrome
    • Ehler-Danlos
    • Alport
  25. Megalocornea Differentiation
    • Buphthalmos: elevated IOP; englarged globe and cornea
    • Congenital Glaucoma: elevated IOP; Haab's Striae; bupthalmos; 1st year of life; unilateral or bilateral; progressive
  26. Anterior Megalophthalmos Differentiation
    Congenital glaucoma
  27. Keratolenticular Dysgenesis Association
    • Scherlocornea
    • Disruption of iris and lens
  28. Sclerocornea Association
    • Ocular:
    • Cornea plana (bilateral)
    • Angle closure glaucoma
    • Narrow angle glaucoma
    • Open angle glaucoma
    • Aniridia
    • Arcus juvenilis
    • Blue Sclera
    • Cataract
    • Ectopia lentis
    • Microcornea
    • Microphthalmos
    • Peripheral anterior synechiae
    • Retinal aplasia
    • Retinal/uveal coloboma

    • Systemic:
    • Cranial dystrophies
    • Cerebellar and ear abnormalities
    • Osteogenesis imperfecta
    • Hallerman-Streiff
    • Hurler's
    • Maroteaux-Lamy
    • Polydactyly
    • Unbalance Translocation
  29. Sclerocornea Differentiation
    Pannus -> fribrovascular net
  30. Posterior Keratoconus Associations
    • Corneal haze
    • endothelial pigment
    • Guttata (3 things: posterior keratoconus, endothelial dystrophy, Fuch’s (Hassell-Henle bodies due to old age have peripheral guttata))
    • Hypertelorism
    • Corneal nebulae from acute hydrops
    • endothelial precipatetes
    • aniridia
    • iris atrophy
    • mesodermal tissue in angle
    • Choroid/retinal sclerosis
  31. Posterior keratoconus Differentiation
    Peter's Anomaly
  32. Congenital Anterior Staphyloma Association
    Uveal tissue lines posterior to cornea
  33. Keratectasia Association
    • Caused by Lasik or Keratoconus
    • no uveal ring posteriorly
  34. Anterior Lenticonus Associations
    • Irregular lenticular astigmatism
    • Alport's Syndrome (90%)
    • Spherophakia
    • Anterior polar cataract
    • Posterior Cortical cataract
    • Fundus lesions (drusen)
    • Neobascularization
    • Posterior polymorphous dystrophy
    • Sensorineural deafness
    • Hearing loss in later childhood
    • Renal involvement (with hearing loss)
    • Hematuria (most common and earliest Alport's manifestation; all men and 95%F)
    • Dot-Fleck retinpathy (most common ocular finding in Alports 85%M)
  35. Posterior Lenticonus Association
    • no systemic manifestations
    • Post capsule wrinkles
  36. Lentiglobus Associations
    Posterior polar lens opacity
  37. Microspherophakia Associations
    • Ocular:
    • Glaucoma (angle closure)
    • Peter's Anomaly
    • Lenticular Myopia
    • Familial ectopia lentis et pupilae (AR)

    • Systemic:
    • AD type - no systemic defects
    • Marfan's
    • Congenital Rubella
    • Posterior Synechiae
    • Glaucomflecken
    • Weill-Marchesani (collagen ds) - short staure; skeletal malformation, brachycephaly, limited joint mobility, ectropion lentis, lenticular myopia, glaucomflecken
  38. Microphakia Associations
    • Lowe's Syndrome - lens is small and disk like
    • Lowe's diagnosis triad: 1. congenital cataract 2. neonatal/infantile hypotonia with subsequent mental impairment 3. renal tubular dysfunction
    • Lowe's have glaucoma (w/ or w/out buphthalmos in 50-60% of boys w Lowe's) - usually bilateral, usually diagnosed in the 1st year of life
  39. Lens Coloboma Association
    • Optic nerve, retina, iris coloboma
    • Microphthalmia
    • Marfan's Syndrome
    • Morning Glory
  40. Posterior Embryotoxin Association
    • 10% - no ocular anomalies or glaucoma
    • Axenfeld-Reiger Syndrome
    • Alagille's Syndrome
  41. Posterior Embryoptoxon Differentiation
    • Limbal Girdle Vogt
    • Arcus
    • Pannus
  42. Axenfeld's Anomaly/Syndrome Association
    glacoma develops in 50% of anomaly
  43. Axenfeld's Anomaly/Syndrome Differentiation
    Alagille's Syndrome -> do EOG/ERG (abnormal)
  44. Alagille's Syndrome Associations
    • Neonatoral jaundice (70%)
    • Borad forehead
    • POinted chin
    • Elongated nose
    • Cardiac murmurs and stenose
  45. Alagille's Syndrome Differentiation
    Axenfeld's Syndrome -> do EOG/ERG (normal)
  46. Reiger's Anomaly/Syndrome Associations
    • Glacoma in 50%
    • Corectopia
    • Polycoria
    • Ectropion uvea
  47. Peter's Anomaly Association
    • Glacoma (50%)
    • Congenital cardiac defects
    • Cleft lip or palate
    • Craniofacial dysplasia
    • Skeletal abnormalities
  48. Mittendorf Dot Associations
    • Posterior lenticonus
    • Lentiglobus
    • Microspherophakia
  49. Aniridia Association
    • AN2 - Wilm's Tumor (renal); WAGR complex (Wilm's tumor, Aniridia, Genitourinary malformations, Retardation); Miller's Syndrome (Wilm's tumor + aniridia)
    • AN3 - Gillespie's Syndrome (mental retardation, cerebellar ataxia)
  50. Chalazion Differentiation
    • Hordeolum -> timing, pain, infection
    • Ocular leishmaniasis with lid involvement - ask about Middle Eastern travel
    • Cellulitis
    • Pyogenic granuloma
    • Sebaceous cell carcinoma
    • Sarcoid
  51. Comedones Associations
    Acne vulgaris
  52. Eccrine Hidrocystoma Association
    Graves (b.c hyerhidrosis in heat)
  53. Eccrine Hidrocystoma Differentiation
    Apocrine cyst (doesn't worsen in heat)
  54. Syringoma Association
    • Down Syndrome
    • Diabetes
  55. Squamous Cell Papilloma Differentiation
    • Viral Wart
    • Seborrheic keratosis
    • Intradermal nevus
    • Carcinoma
    • Viral Papilloma -> young pts, pedunculated, associated wtih HPV
  56. Actinic Keratosis Assocaitions
    Occasionally cutaneous horns
  57. Seborrheic Keratosis Associations
    Lesser-Trelat: multiple eruptive seborrheic keratoses with internal malignancy (typically adenocarcinoma of GI tract)
  58. Seborrheic Keratosis Differentiation
    • Pigmented basal cell carcinoma
    • Nevus
    • Melanoma
  59. Viral Papilloma Associations
    HPV 6, 11, 16
  60. Viral Papilloma Differentiation
    Squamous Cell Papilloma
  61. Keratoacanthoma Associations
    Furguson-Smith Syndrome: AD, multiple lesion keratoacanthoma
  62. Keratoacanthoma Differentiation
    • Squamous Cell Carcinoma
    • Basal Cell Carcinoma
  63. Acquired Melanocystic Nevus Associations
    Atypical Mole Syndrome - multiple dysplastic nevi, increases chance of conjunctival and uveal nevi and melanoma
  64. Port Wine Stain Associations
    • Sturge-Weber Syndrome:
    • 1. Cerebellar arterial/venular malformations
    • 2. Port Wine Stain - CNV capillary abundance
    • 3. Choroidal Hemangioma
  65. Port Wine Stain Differentiation
    Capillary Hemangioma will blanch
  66. Capillary Hemangioma Associations
    • High ouput heart failure
    • Kasaback-Merritt: thrombocytopenia, anemia, low coagulation factor levels
    • Maffuci Syndrome: skin hamangiomas, enchondromata of hands, feet, long bones (which may bow)
  67. Capillary Hemangioma Differentiation
    Nevus - will not blanch
  68. Pyogenic Granuloma Differentiations
    • Conjunctival Melanoma: scleral pigment abnorm in Caucasians; PAM if not born with pigment and deefer vessels present
    • Squamous Cell Carcinoma: feeder vessels & lobulated appearance; PG not lobulated (onr or two humps only)
    • Conjunctival Nevus: No feeder vessels
    • Lymphoma: larger and present all around limbus; firm
    • Papilloma: "just looks different"
    • Kaposi's Sarcoma: immunocompromised pt; lesion more purple
    • Sarcoid Granuloma: Granulomas all over body, even lung
  69. Squamous Cell Carcinoma Associations
    • Actinic Keratosis
    • Bowen's Disease: conjunctival intraepithelial neoplasia then can involve lids
  70. Squamous Cell Carcinoma Differentiation
    Keratoacanthoma
  71. Sebaceous Cell Carcinoma Associations
    Muir-Torre Syndrome
  72. Sebaceous Cell Carcinoma Differentiation
    • Chronic unilateral blepharitis (no such thing)
    • Recurrent chalazion
  73. Karposi Sarcoma Associations
    • Entropion with misdirected lashes
    • AIDS
    • Herpes Virus #8 (Karposi virus)
  74. Eyelash Ptosis Association
    • Floppy eyelid syndrome
    • dermatochalasis
    • CN7 Bell's Palsy
  75. Distichiasis Associations
    • Stevens-Johnson Syndrome
    • Ocular cicatricial pemphigoid
  76. Madarosis Association
    • Ehler-Danlos
    • Lupus
    • Both are CT diseases
  77. Madarosis Differentiations
    chronic blepharitis with recurrent chalazion could be sebaceous cell carcinoma
  78. Poliosis Associations
    • VKH
    • TS (tuberous Sclerosis)
    • Irradiation
    • SO (sympathetic Ophthalmia)
    • Waardenburg's Syndrome
    • Chroquine and Hydroxychroroquine (plaquenile) - antimalarial and RA, cause whorl keratopathy in cornea, cause bull's eye maculopathy

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