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Facomatosis multisistémica: SNC, piel, riñones, corazón, ojos, pulmones, hígado
Autosómica dominante
Mutación de los genes TSC1 (cromosoma 9) y TSC2 (cromosoma 16)
Hamartomas astrocíticos retinianos (uni o bilateral)
A. Aziria, T. Chapron, G. Martin S. Krystal, A. Clement, G. Caputo Service Tuberous sclerosis: Diagnosis onocular fundus examination, 2021 Elsevier
A. Aziria, T. Chapron, G. Martin S. Krystal, A. Clement, G. Caputo Service Tuberous sclerosis: Diagnosis onocular fundus examination, 2021 Elsevier
Sood G, Samanta R, Pandurangan S, Sharma P, Singh A, Agrawal A. Retinal astrocytic hamartoma and systemic spectrum of disease in successive generations with tuberous sclerosis complex. Indian J Ophthalmol 2020;68:2504-7.
Sood G, Samanta R, Pandurangan S, Sharma P, Singh A, Agrawal A. Retinal astrocytic hamartoma and systemic spectrum of disease in successive generations with tuberous sclerosis complex. Indian J Ophthalmol 2020;68:2504-7.
Coloboma de iris, coroides y/o cristalino
Poliosis
Adenomas sebáceo
Sood G, Samanta R, Pandurangan S, Sharma P, Singh A, Agrawal A. Retinal astrocytic hamartoma and systemic spectrum of disease in successive generations with tuberous sclerosis complex. Indian J Ophthalmol 2020;68:2504-7.
Sood G, Samanta R, Pandurangan S, Sharma P, Singh A, Agrawal A. Retinal astrocytic hamartoma and systemic spectrum of disease in successive generations with tuberous sclerosis complex. Indian J Ophthalmol 2020;68:2504-7.
Tumores a nivel sistémico
Sood G, Samanta R, Pandurangan S, Sharma P, Singh A, Agrawal A. Retinal astrocytic hamartoma and systemic spectrum of disease in successive generations with tuberous sclerosis complex. Indian J Ophthalmol 2020;68:2504-7.
Sood G, Samanta R, Pandurangan S, Sharma P, Singh A, Agrawal A. Retinal astrocytic hamartoma and systemic spectrum of disease in successive generations with tuberous sclerosis complex. Indian J Ophthalmol 2020;68:2504-7.
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