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Bardet-Biedl Syndrome
- Congenital hypopituitarism
- -auto-recessive
- -Progressive vision loss (nyctalopia, constricted fields, low VA)
- -retinal dystrophy, polydactyly, hypogonadism, obesity, nephropahty, cognitive impairment
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Retinitis pigmentosa
- -rods of peripheral retina degenerate (dark spicules)
- -thinning vasculature
- -yellowish, waxy looking optic nerve
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Craniopharyngioma
- -benign, pituitary tumor
- -vision and field defects
- -risk of hydrocephalus
- -high rate in children
- -surgery, radiation (sometimes)
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Hemochromatosis
- -def'n: recessive metabolic disorder, high iron absoprtion (tosic levels in organs)
- -affects: males
- -Sxs: bronze diabetes, hypothyrodism, cirrhosis, jaundice, fatigue
- -treatment: phlebotomies
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Gigantism and acromegaly
- -def'n: excess GH release
- -Sxs: bi-temporal VF loss, hyperhidosis, excessive growth, amenorrhea, headaches, weakness
- -Treat: Surgery
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Functional thyroid tests?
- -Complete blood count (CBC) with diff
- -thyroid panel
- -Cat Scan (CT) of orbits
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Graves' disease
- -def'n: autoimmune disease, over-production of AB binding to TSH receptor -> hyperthyroidism
- -affects: women 6:1 men (20-40)
- -Sxs: thyrotoxicosis, goiter, ophthalmopathy (TAO, dry eye, coreanl problems, extruding out) and fibrosis/scaring, thyroid dermopathy
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TAO
- Thyroid-assisted ophthalmopathy
- -most common cause of proptosis in adults
- -most common cause of orbital disease
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Ocular Sxs of Graves' disease?
- NOSPECS
- no Signs or Sxs
- Only lid retractions
- Soft tissue involvement (edema)
- Proptosis (>20mm)
- EOM paresis (esp IR and MR thickening)
- Corneal involvement (keratisis, superior limbic keratoconjunctivitis (severe TAO), corneal ulcer)
- Sight Loss (optic neuropathy, retinopathy, diplopia)
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Dalrymple sign
- -wide palpebrale fissure due to lid retraction
- -graves' disease (hyperthyroidism)
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Stellwag sign
- stare, infreq blink
- -GRaves' disease (hyperthyroidism)
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Von Graefe sign
- -life lag on downward gaze
- -GRaves' disease (hyperthyroidism)
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Optic neuropathy
- -optic nerve compression
- -optic atrophy
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Retinopathy
- -edema: retinal folds
- -hemorrhages
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Hasimoto's Thyroiditis
- -def'n: autoimmune primary hypothyroidism
- -affects: females (5:1)
- -Sxs: lassitude, cold intolerance, weight gain, hair loss, dry coarsening skin, delayed reflexes
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Adult hypothyroidism
-ocular sequelae (puffy lids and periorbital skin, madarosis)
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Cretinism
- -def'n: congenital hypothyroidism
- -arrested development, protuberant abdomen, bone dystrophies, delayed puberty, facial abnormalities and enlarged tongue
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Thyroid cancer
- -def'n: malignant neoplasm
- -affects: women (3:1), euthyroid individuals
- -Sxs: nodules (enlarged)
- -Dx: ultrasound and fine needle biopsy
- -Tx: surgery (thyroidectomy, lobectomy), radiation
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Cushing's Syndrome
- -def'n: Adrenal cortex disease, benign pituitary adenoma cuasing excess cortisol release
- -affects: females (3:1) 20-50
- -Sxs: upper body obesity, moon face, weakened skin and bones, fatigue, diabetes mellitus
- -Tx: surgery, hydrocortisone replacement therapy, radiation therapy
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Pheochromocytoma
- -def'n: benign tumor in adrenal medulla -> excess adrenaline
- -affects: males and females equally, rare
- -Sxs: visual disturbances (hypertensive retinopathy, headaches, hypertneion, hyperhidrosis, tachycarida, anxiety, chest/abdominal pain, nausea
- -Tx: laparoscopic adrenalectorny (surgery to remove abnormal parts), anti-HT agents
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Hypertensive retinopathy
- -cotton wool spots ("soft exudates" form when cells die. ischemic conditions)
- -hard exudates (lipids released from damaged cells)
- -flame hemorrhages (b/c blood traveling through NFL)
- -ONH swelling (NOT papilledema becuase bp is high and NOT brain pressure)
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