systemic disease Flashcards
what is myotonic dystrophy?
AD mutation in dystrophia myotonica protein kinase geneDMPK
what are the general features of myotonic dystrophy?
Difficulty in releasing grip
Muscle wasting and weakness
Mournful facial expression (facial wasting, loose jaw)
Slurred speech (tongue/pharyngeal muscles involved)
Frontal baldness in males
what are the occular features of myotonic dystrophy?
Common: Early-onset cataract, ptosis, hypermetropia
Uncommon: mild ophthalmoplegia, pupillary light-near dissociation, pigmentary retinopathy, optic atrophy
what cataracts are found in myotonic dystrophy?
stellate posterior cortical cataracts
what are the occular features of NF T1?
Optic glioma
Two or more Lisch nodules (iris hamartomas)
what are lisch nodules?
Bilateral yellow or brown dome-shapednodules
Develop during 2nd–3rd decades
Eventually present in 95% of cases
what is an optic glioma?
Fusiform enlargement causing globe proptosis
Afferent pupillary defect
Optic nerve may be swollen (or atrophic later)
30% have associated NF1
what is the treatment to thyroid eye disease?
Control of thyroid dysfunction
Stop smoking
Consider selenium supplementation
Lubricants
Systemic steroids- PO vs IV
Radiotherapy
Monoclonal antibody treatment
Surgical decompression
Eye muscle surgery
Lid surgery
what are the features of dermatomyositis
Heliotrope rash on eyelids
Gottron’s papules on small joints of hands
Proximal muscle weakness
Systemic autoimmune disease – look for dry eyes/scleritis etc
Can be a paraneoplastic phenomenon – ovarian, breast, lung cancer
Can be caused by drugs eg hydroxyurea
what are the features of marfans syndrome?
Autosomal dominant; mutation of the fibrillin-1 gene (FBN1)
Tall, thin stature
Disproportionately long limbs compared with the trunk (arm span > height)
Narrow high-arched (‘gothic’) palate
Pectus excavatum
Dilated aortic root
what are the occular findings of marfans syndrome?
DISLOCATED LENS
(ECTOPIA LENTIS)
Can be in any meridian
Zonules still intact
Classically superotemporal
what are the corneal and scleral features of some autoimmune diseases?
RA- scleromalacia perforans
- peripheral ulcerative keratitis
sjogrens syndrome- punctuate epithelial errosions
what are some uveitis features of some autoimmune disease?
keratic precipitates (granulomatous anterior uveitis)
- sarcoidosis
- TB
- syphilis
posterior synechiae
-HLA B27
-idiopathic anterior uveitis
posterior uveitis
-retinitis
-vasculitis
-optic neurosis
what can cause vortex keratopathy?
Amiodarone
Hydroxychloroquine
Chlorpromazine
-(Fabry disease)
what can cause bulls eye maculopathy?
Hydroxychloroquine
Chloroquine
