Keratoconus in tuberous sclerosis
نویسندگان
چکیده
منابع مشابه
TSC1 Mutations in Keratoconus Patients With or Without Tuberous Sclerosis
Purpose To test candidate genes TSC1 and TSC2 in a family affected by tuberous sclerosis complex (TSC) where proband was also diagnosed with bilateral keratoconus (KC) and to test the hypothesis that defects in the same gene may lead to a nonsyndromic KC. Methods Next-generation sequencing of TSC1 and TSC2 genes was performed in a proband affected by TSC and KC. Identified mutation was confir...
متن کاملTuberous sclerosis.
Tuberous sclerosis - also called tuberous sclerosis complex (TSC) - is a rare, multi-system genetic disorder affecting cellular differentiation & proliferation, which results in hamartoma formation in many organs. The classic triad of clinical features comprises mental retardation, epilepsy & skin lesion, but these three features are not always present. Mrs. Jahanara Khatun, a 30 years old lady...
متن کاملtuberous sclerosis
A search for children presenting with signs or symptoms of cardiac rhabdomyomas was made through members of the paediatric section of the British Cardiac Society in order to establish their birth incidence, presenting features, clinical course, and the frequency of a concurrent diagnosis of tuberous sclerosis. Fifteen children were identified and 12 had tuberous sclerosis (80%). Heart failure w...
متن کامل[Tuberous sclerosis].
Tuberous sclerosis is a multisystem disorder characterized by changes primarily involving the skin, eye, and central nervous system. Although the disease often produces mental retardation and seizures, this is not universal, and some patients with tuberous sclerosis lead a relatively normal life.
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A case of Tuberous Sclerosis with infantile autism, misdiagnosed as mental retardation with seizure disorder is being discussed in light of the implication of the misdiagnosis.
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ژورنال
عنوان ژورنال: Eye
سال: 2006
ISSN: 0950-222X,1476-5454
DOI: 10.1038/sj.eye.6702536