Each one of the following is associated with retinitis pigmentosa, except:
Correct Answer D: Ocular manifestations of Tuberous sclerosis includes retinal hamartomas.
Tuberous sclerosis is an autosomal dominant genetic multisystem disorder characterized by widespread hamartomas in the brain, heart, skin, eyes, kidney, lung, and liver. Most features of tuberous sclerosis become evident only in childhood after 3 years of age.
The affected genes TSC1 and TSC encode for proteins hamartin and tuberin respectively. Epilepsy is seen in 60–80% tuberous sclerosis cases and is thought to be secondary to changes of GABA receptors in dysplastic neurons, and enhanced excitation via glutamate receptors in cortical hamartomas. The epilepsy is generally of an early onset and is often intractable in severity.
Cutaneous features:
Neurological features:
Also
*These of course are more commonly associated with neurofibromatosis. However a 1998 study of 106 children with TS found café-au-lait spots in 28% of patients.
A 60-year-old woman who has recently started treatment for polymyalgia rheumatica presents with a five day history of headaches and reduced vision on the right side since this morning There is no eye pain but the there is a 'large, dark shadow' covering the superior visual field on the right side. On examination she has a tender, palpable right temporal artery.
What is the most likely explanation for the reduced vision?
Correct Answer A:
Temporal arteritis: Temporal arteritis is large vessel vasculitis which overlaps with polymyalgia rheumatica (PMR). Histology shows changes which characteristically 'skips' certain sections of affected artery whilst damaging others.
Features:
Investigations:
Treatment:
Which one of the following statements regarding macular degeneration is true?
Correct Answer E: Age related macular degeneration is the most common cause of blindness in the UK. Degeneration of the central retina (macula) is the key feature with changes usually bilateral.
Traditionally two forms of macular degeneration are seen:
Recently there has been a move to a more updated classification:
Risk factors:
Investigation and diagnosis:
General management:
Dry macular degeneration:
Wet macular degeneration:
Which one of the following is least associated with the development of optic atrophy?
Correct Answer E:
Optic atrophy: Optic atrophy is seen as pale, well demarcated disc on fundoscopy. It is usually bilateral and causes a gradual loss of vision*. Causes may be acquired or congenital.
Acquired causes:
Congenital causes:
*Strictly speaking optic atrophy is a descriptive term, it is the optic neuropathy that results in visual loss
Which one of the following causes of Horner's syndrome is due to a central lesion?
Correct Answer C: Horner's syndrome - anhydrosis determines site of lesion:
Horner's syndrome: Features:
Distinguishing between causes:
*in reality the appearance is due to a narrow palpebral aperture rather than true enophthalmos
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