Disease Profiles: Eye + Systemic Disease Flashcards
What causes thyroid eye disease?
90% of cases associated with Graves disease - thyroid receptor antibodies present in orbital tissue
What is diabetic macular oedema?
Characterised by oedematous changes in or around the macula
Name two ocular features associated with Neurofibromatosis Type 1
Optic glioma, Lisch nodules
How do steroids increase incidence of cataracts?
Steroids cause a rise in intra-ocular pressure
Name 3 diseases associated with posterior uveitis
Retinitis, vasculitis, optic neuritis
Define Marfan syndrome
Genetic connective tissue disorder
Define myotonic dystophy
Group of inherited conditions that show muscle weakness and myotonia (inability to relax after muscle contraction)
Name 3 cutaneous features of Neurofibromatosis Type 1
≳6 cafe-au-lait macules
2≳ neurofibromas of any type, or one plexiform neurofibroma
Axillary or inguinal freckling
What type of drug can cause symblepharon?
Drugs that cause Stevens-Johnson syndrome - sulfa drugs, penicillins etc.
What causes Marfan syndrome?
Autosomal dominant mutation of the fibrillin-1 gene (FBN1)
Name two ocular features of Sjorgren’s syndrome
Dry eyes - gritty feeling
Punctate epithelial erosions seen using fluorescein
Name 3 causes of dermotomyositis
Systemic autoimmune
Paraneoplastic phenomenon
Drugs e.g. hydroyurea
Name the most common cause of unilateral and bilateral proptosis
Thyroid eye disease
Define Neurofibromatosis Type 1
Genetic condition (NF1 gene mutation) that causes tumours along the nervous system
Name two ocular features of rheumatoid arthritis
Describe the stages of thyroid eye disease
- Soft tissue involvement
- Lid retraction
- Proptosis
- Optic neuropathy
- Restrictive myopathy
Describe the features on fundoscopy associated with proliferative diabetic retinopathy
Neovascularisation
Vitreous haemorrhage and traction
Describe the features on fundoscopy associated with non-proliferative diabetic retinopathy
Name 3 common ocular manifestations of myotonic dystophy
Early onset cataract, ptosis, hypermetrophia
What is optic glioma?
Slow growing tumour of the optic nerve which causes fusiform enlargement, resulting in globe proptosis and an afferent pupillary defect 30% have associated NF1
When might a vitrectomy be indicated in diabetic eye disease?
May be necessary for vitreous haemorrhage or retinal detachment
Used in patients with diabetic macular oedema with clinical or OCT signs of traction
Name 2 ocular features of dermotomyositis
Heliotrope rash on eyelids
Systemic autoimmune disease - look for dry eyes, scleritis etc.
Name 4 uncommon ocular manifestations of myotonic dystophy
Mild opthalmoplegia
Pupillary light-near dissociation
Pigmentary retinopathy
Optic atrophy
What is thyroid eye disease?
Autoimmune disease caused by the activation of orbital fibroblasts by autoantibodies directed against thyroid receptors
Characterized by enlargement of the extraocular muscles, fatty and connective tissue volume
Describe the management of proliferative diabetic retinopathy
Panretinal photocoagulation
Name two types of cataract associated with myotonic dystrophy
Stellate posterior cortical catact and ‘Christmas Tree’ (polychromatic) cataract
Name two clinical signs of Marfan syndrome involving the hands
Wrist sign, thumb sign
Name the pathognomonic type of cataract associated with myotonic dystrophy
Stellate posterior cortical catact
Name the genetic mutation that causes classic dystrophia myotonica 1 (DM1)
AD mutation in dystrophia myotonica protein kinase gene DMPK
Describe the clinical presentation of myotonic dystophy
Muscle wasting and weakness
Mournful facial expression (facial wasting, loose jaw)
Slurred speech (tongue/pharyngeal muscles involved)
Frontal baldness in males
Name 3 drugs which can cause vortex keratopathy
Amiodarone
Hydroxychloroquine
Chlorpromazine
Name 2 diseases associated with posterior synechiae
HLA B27 anterior uveitis, idiopathic anterior uveitis
Define dermotomyositis
Autoimmune condition that causes skin changes and muscle weakness
Describe the management of macular oedema
Anti-VEGF
Focal macular laser for clinically significant macular oedema (CSME)
Name 3 diseases associated with ‘mutton-fat’ keratic precipitates (granulomatous anterior uveitis)
Sarcoidosis, TB, syphalis
Name a musculoskeletal feature of Neurofibromatosis Type 1
Distinctive osseous lesion e.g. sphenoid dysplasia or thinning of long bone cortex, with or without pseudoarthrosis
Describe the clinical features of Marfan syndrome
Tall, thin stature
Disproportionately long limbs compared with trunk
Arachnoidactoly
Narrow high-arched (‘gothic’) palate
Pectus excavatum
Dilated aortic root
Name an ocular manifestation of Marfan syndrome
Disocated lens (ectopia lentis) - can be in any meridial but classically superotemporal
Name 2 drugs which can cause bull’s eye maculopathy
Hydroxychloroquine
Chloroquine
Name 2 non-ocular features of dermotomyositis
Proximal muscle weakness
Gottron’s papules on small joints of hands
What are Lisch nodules?
Bilateral yellow or brown dome-shaped nodules which develop during 2nd-3rd decades of patients with NF1, eventually present in 95% of cases
