Need to Know

  1. What is Bardet-Biedl Syndrome?
    • -AR inherited hypopituitarism
    • -Nyctalopia, constricted fields, acuity loss
    • -4 of 6 features: RP, polydactyly, obesity, cognitive impairment, hypogonadism, nephropathy
    • -OD responsibility: low vision care, refer to retinal specialist, refer to nephrologist
  2. What is Gigantism and Acromegaly?
    • -Hyperpituitarism in children and adults respectively
    • -Bi-termporal visual field loss intially, eventually all optic fibers are affected
    • -Tx: surgery
  3. Interpretation of a CT scan?
    • -Bone is white, soft tissues are grey, air is black
    • -useful for viewing bony detail and soft tissue in orbit
  4. What is Graves' disease?
    • -autoimmune disease hyperthyroid disease, goiter
    • -Sxs: pain, diplopia, vision loss
    • -Thyroid-associated ophthalmopathy leading to fibrosis/scarring in 1-2 years (90% with TAO have Graves' disease), Optic neuropathy (compression and atrophy), Retinopathy (edema: retinal folds, hemorrhages)
    • -Progression: NO SPECS (No signs or Sxs, Only lid retraction, Soft tissue involvment, Proptosis (>20mm), EOM involvement, Corneal involvement, Sight loss)
    • -Tx: antithyroid drugs, surgery (subtotal thyroidectomy), radioactive iodine
  5. What is the darymple sign?
    wide palpebral fissure due to lid retraction in Graves' disease ophthalmopathy
  6. What is the stellwag sign?
    -infrequent blinking and staring expression in Graves' disease ophthalmopathy
  7. What is the von Graefe sign?
    -lid lag on donward gaze (80% of Graves' disease ophthalmopathy cases)
  8. What is Hashimoto's thyroiditis?
    • -hypothyroidism
    • -lassitude, cold intolerance, weight gain, hair loss, dry coarsening skin, delayed reflexes
    • -puffy lids and periorbital skin, madarosis
  9. Ocular features of hypocalcemia?
    • -posterior cataracts
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