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Tuberous Sclerosis Complex: Genotype/Phenotype Correlation of Retinal Findings

Aronow, Mary E., MD ; Nakagawa, Jo Anne, BS ; Gupta, Ajay, MD ; Traboulsi, Elias I., MD ; Singh, Arun D., MD

Ophthalmology (Rochester, Minn.), 2012-09, Vol.119 (9), p.1917-1923 [Periódico revisado por pares]

New York, NY: Elsevier Inc

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Título:
Tuberous Sclerosis Complex: Genotype/Phenotype Correlation of Retinal Findings
Autor: Aronow, Mary E., MD ; Nakagawa, Jo Anne, BS ; Gupta, Ajay, MD ; Traboulsi, Elias I., MD ; Singh, Arun D., MD
Assuntos: Adolescent ; Adult ; Angiomyolipoma - genetics ; Angiomyolipoma - pathology ; Astrocytoma - genetics ; Astrocytoma - pathology ; Biological and medical sciences ; Brain Neoplasms - genetics ; Brain Neoplasms - pathology ; Child ; Child, Preschool ; Cognition Disorders - genetics ; Cognition Disorders - pathology ; DNA Mutational Analysis ; Epilepsy - genetics ; Epilepsy - pathology ; Female ; Genetic Association Studies ; Humans ; Infant ; Infant, Newborn ; Kidney Neoplasms - genetics ; Kidney Neoplasms - pathology ; Male ; Medical sciences ; Middle Aged ; Miscellaneous ; Mutation ; Neurology ; Ophthalmology ; Polymerase Chain Reaction ; Retinal Diseases - diagnosis ; Retinal Diseases - genetics ; Retrospective Studies ; Tuberous Sclerosis - diagnosis ; Tuberous Sclerosis - genetics ; Tumor Suppressor Proteins - genetics ; Tumors of the nervous system. Phacomatoses ; Young Adult
É parte de: Ophthalmology (Rochester, Minn.), 2012-09, Vol.119 (9), p.1917-1923
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Descrição: Objective To evaluate genotype/phenotype correlations in individuals with astrocytic hamartoma (AH) and retinal achromic patch (AP) in the setting of tuberous sclerosis complex (TSC). Design Retrospective consecutive case series. Participants A total of 132 patients enrolled in the Cleveland Clinic Foundation Tuberous Sclerosis Program (CCF-TSCP) and 907 patients from the Tuberous Sclerosis Alliance (TSC-A). Methods Patient gender, age at TSC diagnosis, presence of TSC1 or TSC2 mutations, detailed ophthalmic examination findings, systemic manifestations, and whether or not the patient had a diagnosis of epilepsy or cognitive impairment were analyzed. Main Outcome Measures Genotype/phenotype correlation of retinal findings and systemic disease manifestations. Results No significant difference was found in the prevalence of AH or AP in the CCF-TSCP (36.1%) and TSC-A (34.1%) groups ( P = 0.743). Astrocytic hamartomas were bilateral in 43.3% and 18.1% ( P = 0.009) and multiple in 40.0% and 15.3% ( P = 0.008) in the CCF-TSCP and TSC-A groups, respectively. In the CCF-TSCP group, the average number of AH was 4 (range, 2–7). Average tumor size was 1.0 disc diameter (range, 0.5–2.5 disc diameters). The most common location was along the arcades (41.5%), adjacent to the optic nerve (29.2%), and in the retinal periphery (27.7%). In the CCF-TSCP group, AP was observed in 12.0% of patients (40.0% bilateral, 50.0% multiple). The presence of retinal features was associated with giant cell astrocytoma (37.1% vs. 14.6%; P = 0.018), renal angiomyolipoma (60.0% vs. 27.1%; P = 0.003), cognitive impairment (77.1% vs. 43.8%; P = 0.002), and epilepsy (91.4% vs. 70.8% ( P = 0.022) in those with and without retinal findings, respectively. In patients with retinal findings in both the CCF-TSCP and TSC-A groups, mutations in TSC2 were more frequent than in TSC1, 3.3 times and 5.8 times, respectively; in those without retinal findings, the relative rates were 0.67 times and 2.3 times, respectively. Conclusions Individuals with retinal findings are more likely to have concomitant subependymal giant cell astrocytomas, renal angiomyolipomas, cognitive impairment, and epilepsy. TSC2 mutations are more frequent in patients with retinal findings than in those without retinal findings. Financial Disclosure(s) The author(s) have no proprietary or commercial interest in any materials discussed in this article.
Editor: New York, NY: Elsevier Inc
Idioma: Inglês

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Tuberous Sclerosis Complex: Genotype/Phenotype Correlation of Retinal Findings

Aronow, Mary E., MD ; Nakagawa, Jo Anne, BS ; Gupta, Ajay, MD ; Traboulsi, Elias I., MD ; Singh, Arun D., MD

New York, NY: Elsevier Inc

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