the eye in systemic disease Flashcards

1
Q

what causes myotonic dystrophy?

A

AD mutation in dystrophia myotonica protein kinase geneDMPK

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2
Q

what are the symptoms of myotonic dystrophy?

A

Muscle wasting and weakness
Mournful facial expression (facial wasting, loose jaw)
Slurred speech (tongue/pharyngeal muscles involved)
Frontal baldness in males

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3
Q

what are the ocular symptoms of myotonic dystrophy?

A

Early-onset cataract, ptosis, hypermetropia

rare: mild ophthalmoplegia, pupillary light-near dissociation, pigmentary retinopathy, optic atrophy

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4
Q

what are ocular findings of NF type 1?

A

lisch nodules, optic glioma

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5
Q

how do you describe thyroid eye disease?

A

Bilateral, symmetrical
Peri-orbital swelling
Prominent eyes (proptosis + lid retraction)
Staring/frightened appearance ofeyes (Kocher sign) on focusing
Conjunctival injection

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6
Q

what ocular changes are seen in dermatomyositis?

A

Bilateral lilac eyelid discolouration
Swelling of eyelids and peri orbital skin
(this is heliotrope rash)

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7
Q

what would you do in an osce when you see Bilateral lilac eyelid discolouration and Swelling of eyelids and peri orbital skin?

A

examine hands to look for gottron’s papules –> dermatomyositis

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8
Q

what are the ocular changes in marfan’s syndrome?

A

disclocated lens
- classically supertemporal dislocation

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9
Q

what causes downward lens dislocation?

A

homocystinuria

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10
Q

what cornea changes are seen in RA?

A

scleromalacia perforans
peripheral ulcerative keratitis

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11
Q

what is the diagnosis when you see “mutton fat” keratitic precipiotates?

A

granulomatous anterior uveitis

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12
Q

what causes granulomatous anterior uveitis?

A

sarcoidosis
syphilis
TB

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13
Q

what are causes of infective inflammatory eye disease?

A

TB
Herpetic (zoster, simplex)
CMV
Toxoplasmosis
Syphilis
Lyme Disease

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14
Q

what are non-infective causes of inflammatory eye disease?

A

Idiopathic Syndromes
HLA-B27
Juvenile Arthritis
Sarcoidosis
Behcet’s Disease

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15
Q

what is the eye steroid response?

A

Cause a rise in intra ocular pressure (IOP) that may be asymmetrical
related to steroid potency

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