Peripapillar retinal hamartoma associated with tuberous sclerosis. Case report
| Autor: | L. Fernández Montalvo, A. Juárez Marroquí, S. Núñez Márquez, M.C. Serra Verdú, F. Hernández Pardines |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
Adult
Male congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Genetic counseling Hamartoma Optic Disk Context (language use) Disease 03 medical and health sciences chemistry.chemical_compound Tuberous sclerosis 0302 clinical medicine Blurred vision Retinal Diseases Tuberous Sclerosis 030225 pediatrics medicine Humans Astrocitoma Astrocytoma Esclerosis tuberosa Hamartoma retiniano Retinal hamartoma Tuberous sclerosis business.industry food and beverages Astrocytoma Retinal General Medicine medicine.disease Dermatology Natural history chemistry 030221 ophthalmology & optometry medicine.symptom business |
| Zdroj: | Archivos de la Sociedad Espanola de Oftalmologia r-FISABIO. Repositorio Institucional de Producción Científica instname r-FISABIO: Repositorio Institucional de Producción Científica Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO) |
| ISSN: | 2173-5794 0365-6691 |
| Popis: | Introduction Tuberous sclerosis is a rare multisystemic disease with an autosomal dominant inheritance pattern. There are few documented cases in the literature of retinal hamartomas (astrocytomas) with aggressive progression in the context of this disease. Case report A report is presented on a case of a 31-year-old male with unknown history of ophthalmic or systemic conditions, who referred to a history of 6 months of blurred vision in his right eye. This was caused by a unilateral retinal hamartoma due to an undiagnosed tuberous sclerosis. Discussion Multidisciplinary management, with the cooperation of Internal Medicine and the Oncology Department, is needed in these cases, as well as genetic counseling for affected patients. Complications are directly related to increased tumor size. Treatment does not seem to have any influence on the natural history of the disease. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect