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Clinical Medicine: Ocular Manis of Metabolic Disorders

Terms in this set (28)

The term hyperlipidemia can mean high lipid levels in terms of high cholesterol or high triglyceride. Conditions that cause this include _______ /genetic conditions (due to inherited or sporadic inborn errors of metabolism which result in EXTREMELY high levels) or _____/acquired conditions (due to DM, kidney disease, pregnancy or underactive thyroid gland).
a) Primary
b) Secondary
Normal Cholesterol Levels? Normal Triglyceride levels?
a) 200 mg/dl
b) 150 mg/dl
Hyperlipidemia and Atherosclerosis:

a) T/F. Hyperlipidemia by itself does not cause symptoms, but speed up a process called atherosclerosis

b) Systemic atherosclerosis: epidemic proportions in most developed countries results in what two things?
a) True
b) Ischemic heart disease
c) Cerebrovascular disease
ATC Risk Factors: Name three big ones? Also Sex (males before menopause). Age. Cigarette Smoking.
a) DM, HTN, and High Serum Lipid (Cholesterol)
ATC Systemic Symptoms:

a) _____ _____ (pain in limbs, usually legs, caused by walking, pain goes away with REST)
b) Impotence
c) Rest pain
d) Weak ______ pulse
e) Bruit
f) Blood pressure changes
g) Skin changes
h) ________ of skin
I) ____ ________ (acute MI)
m) Sudden Death
a) Intermittent Claudication
b) Distal
c) Coolness
d) Angina Pectoris
ATC Ocular Symptoms: What are two big ones?
Amaurosis Fugax
Visual Field Loss
Ocular Signs Include: Change in arterial reflex; ____-____ appearance, retinal artery or vein occlusion, emboli, _______, ________ and lipemia retinalis.
a) Copper-Wire
b) Arcus
c) Xanthelasma (Xanthoma)
ATC Treatment: Control Risk factors; Removal of lipid (HMG-CoA reductase inhibitors or _______); Bile acid resins; Nicotinic acids; Fibric acids; prevention of events; medical management.
a) Statins
This is caused by a genetic lack of melanin. It is synthesized from amino acid tyrosine (tyrosinase breaks down tyrosine). People with this disorder have been passed down a nonfunctional tyrosinase allele which can result in what three different types?
a) Albinism
b) Cutaneous
c) Oculocutanoues (Most Severe - Type 1)
d) Ocular Albinism (X-linked)
Symptoms of Albinism: White skin and hear. What color eyes? Ocular dysfunctions resulting from ______ of the optic fibers from retina to visual cortex.
a) Red or pink
b) Misrouting
What three symptoms occur in all forms of ocular or OCA?
a) Photophobia
b) Moderate to Severe Reduced visual acuity
c) Nystagmus
Diagnosis and Treatment of Albinism: Tyrosinase Assay and use of broad-spectrum sunscreens and clothings. Also use corrective lenses.
Note.
This is an autosomal recessive disorder in chromosome 13. Affects copper transporter in liver lysozyme and decreases the incorporation of ceruloplasmin resulting in impairment of biliary excretion of COPPER. Leads to organ damage due to buildup of copper (liver and brain). Difficult to diagnose but can be treated if caught early.
Wilson's Disease
What does Copper Do: Essential mineral. Important for ___ for enzymes, mitochondrial respiration, ______ biosynthesis, iron hemostasis, and neutralizing __ __. Normal daily intake is what? In foods such as nuts, seeds and garbanzo beans.
a) Cofactor
b) Melanin
c) Free radicals
d) 1-4
Symptoms of Wilson's Disease:

a) Hepatomegaly to liver failure
b) _______ (arms, legs and head)
c) ______ involving tongue, face, and pharynx
d) Cerebellar dysfunction
e) Seizures
f) _________ impairment
g) Personality changes with memory loss and dementia
a) Tremor
b) Dystonia
c) Olfactory
Ocular Symptoms of Wilson's Disease:

a) __ ______ (gold, brown to green, spread centrally)
b) _____ cataracts (sunburst appearance in lens centrally with radiating spokes due to excess copper deposition)
a) Kayser-Fleischer
b) Sunflower
Diagnosis and Treatment of Wilson's Disease:

a) Low _______
b) 24 urin copper excretion is high
c) Liver Biopsy and genetic testing
d) Tx: Reduce dietary intake of copper; ______ (original therapy); Zn+ acetate (promotes fecal copper excretion); and _____________ (experimental option interferes with intestinal absorption of copper).
a) Ceruloplasmin
b) Penicillamine
c) Tetrathiomolybdynate
This is deposition of monosodium urate crystals in tissues (urate is end product of purine metabolism). Hyperuricemia (serum urate > urate solubility >6.8mg/dl). Hyperuricemia is caused by what two things?
a) Gout
b) Overproductin and underexcretion
T/F. You cannot have gout without crystal deposition.
True
Symptoms of Gout: Abrupt onset of severe _____ inflammation (warmth, swelling, erythema, and pain) usually nocturnal. 90% 1st attacks are ________. 50% are ______ (1st meta-tarso-phalangeal or MTP joint). Can occur in other joints, bursa and tendons.
a) Joint
b) Monoarticular (one joint only)
c) Podagra
This is solid urage deposits in tissues (irregular and destructive).
Tophi
Ocular Symptoms of Gout: ______ in the eyelids, marginal keratitis, ________ keratopathy, anterior uveitis, hemorrhagic iritis, scleritis, ________. Urate crystals have been described clinically in the iris, anterior chamber, lens, sclera, tarsal cartilage and in tendons of EOM.
a) Tophi
b) Band
c) Tenonitis
Diagnosis of Gout: Clinical history and exam. _____ fluid analysis is gold standard (Strong negative birefringence).
a) Synovial (Polarized Light Microscopy)
Treatment of Gout: NSAIDS, colchicine, corticosteroids, lower urate (don't do during a flare): _______ agents (probenecid) and xanthine oxidase inhibitor (______)
a) Uricosuric
b) Allopurinol
This is a lysosomal storage disease due to impaired transport of cysteine out of lysosimes (Cystinosin). High intracellular cysteine content. Crystals in many tissues accumulate within cellular lysosomes of the eye, kidney, thyroid and brain and retinculoendothelial system. AR.
Cystinosis
Cystinosis Symptoms: None. _______ dysfunction (Fanconi syndrome). Renal failure (age 10 years). Cerebral Calcifications. DM. Myopathy (difficulty swallowing). Infantile variant (growth retardation and rickets).
Proximal Renal Tubular
Ocular Symptoms of Cystinosis: Ocular _____ in uvea, conjunctiva, cornea and retina. Photophobia and retinal blindness.
Deposits
Diagnosis and Treatment of Cystinosis: Measure lysosomal _____ content in WBC. Genetic Testing.

Treatment: Replacement of ____ losses. Ocular or oral cysteamine. L-Thyroxine and testosterone. ________ hormone and renal transplant.
a) Cystine
b) Renal
c) Growth
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