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
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
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
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
What is the darymple sign?
wide palpebral fissure due to lid retraction in Graves' disease ophthalmopathy
What is the stellwag sign?
-infrequent blinking and staring expression in Graves' disease ophthalmopathy
What is the von Graefe sign?
-lid lag on donward gaze (80% of Graves' disease ophthalmopathy cases)
What is Hashimoto's thyroiditis?
- -lassitude, cold intolerance, weight gain, hair loss, dry coarsening skin, delayed reflexes
- -puffy lids and periorbital skin, madarosis
Ocular features of hypocalcemia?
- -posterior cataracts