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Tuberous sclerosis complex (TSC) is a multisystem disorder characterised by hamartomatous growths that can occur in almost any organ or tissue. The first description of TSC is usually attributed to Bourneville in 1880 1 and in 1908, Vogt described the classic triad of epilepsy, mental retardation, and adenoma sebaceum (now called angiofibromatosis). 2 The clinical manifestations of TSC are now known to be far more diverse and a more inclusive system of primary and secondary diagnostic criteria have been introduced. 3 These include cortical tubers, retinal astrocytomas, facial angiofibromas, ungual fibromas, hypomelanotic skin lesions, shagreen patch, and renal angiomyolipomas.
Ophthalmic features associated with TSC can be divided into retinal and non-retinal. The retinal associations of TSC were first noted by Van der Hoeve in 1921. 4 He termed these lesions phakomas (derived from the greek phakos , meaning spot) and introduced the concept of phakomatosis. These retinal lesions are now known to be astrocytic hamartomas. 5
Three basic morphological types of retinal hamartomas are described in the literature 6 : (i) the relatively flat, smooth, non-calcified, grey, translucent lesion (Fig 1 A); (ii) the elevated, multinodular, calcified, opaque lesion resembling mulberries (Fig 1 B); and (iii) a transitional lesion which has morphological features of both of the previous. Other retinal findings include retinal pigmentary disturbance ranging from hyperpigmented areas (probably congenital retinal pigment epithelium hypertrophy) 7 to "punched out" hypopigmented areas at the posterior pole or midperiphery (Fig 1 C). 8 9 Non-retinal findings include angiofibromas of the eyelids, coloboma of the iris, lens and choroid, strabismus, poliosis of eyelashes, papilloedema, 7 and sector iris depigmentation. 9
Previous studies 6 8 10 11 have examined the prevalence of ophthalmic manifestations of TSC in clinic based studies in the USA and Japan, but this is the first population based study examining the prevalence in a UK based population.
Materials and methods
The study population encompassed Avon, Wiltshire, Southampton and south west Hampshire, Portsmouth and south east Hampshire, Winchester, and Dorset as part of the Wessex Tuberous Sclerosis epidemiology study undertaken by FJO. Multicentre ethics committee approval was obtained. Patients with TSC were identified by various methods: (i) written contact with consultants likely to encounter individuals with TSC, including paediatricians, neurologists, ophthalmologists, dermatologists, cardiologists, nephrologists, urologists,...