Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review.

Sallum, Juliana M F; Kaur, Vinay Preet; Shaikh, Javed; Banhazi, Judit; Spera, Claudio; Aouadj, Celia; Viriato, Daniel; Fischer, M Dominik

Sallum, Juliana M F; Kaur, Vinay Preet; Shaikh, Javed; Banhazi, Judit; Spera, Claudio; Aouadj, Celia; Viriato, Daniel; Fischer, M Dominik.

Sallum JMF; Department of Ophthalmology, Universidade Federal de São Paulo, São Paulo, Brazil.
Kaur VP; Instituto de Genética Ocular, São Paulo, Brazil.
Shaikh J; Novartis Healthcare Pvt. Ltd, Hyderabad, India.
Banhazi J; Novartis Healthcare Pvt. Ltd, Hyderabad, India.
Spera C; Novartis Pharma AG, 4056, Basel, Switzerland. judit.banhazi@novartis.com.
Aouadj C; Novartis Pharma AG, 4056, Basel, Switzerland.
Viriato D; Novartis Pharma K. K, Tokyo, Japan.
Fischer MD; Novartis Pharma AG, 4056, Basel, Switzerland.

Adv Ther ; 39(3): 1179-1198, 2022 03.

Article en En | MEDLINE | ID: mdl-35098484

Asunto(s)

Amaurosis Congénita de Leber; Distrofias Retinianas; cis-trans-Isomerasas; Adulto; Niño; Humanos; Amaurosis Congénita de Leber/genética; Amaurosis Congénita de Leber/terapia; Mutación; Distrofias Retinianas/epidemiología; Distrofias Retinianas/genética; Epitelio Pigmentado de la Retina; cis-trans-Isomerasas/genética

Palabras clave

Epidemiology; Inherited retinal dystrophies (IRD); Leber congenital amaurosis (LCA); Prevalence; RPE65 gene; Retinitis pigmentosa (RP); Systematic review

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Cis-trans-Isomerasas / Amaurosis Congénita de Leber / Distrofias Retinianas Tipo de estudio: Prognostic_studies / Risk_factors_studies / Screening_studies / Systematic_reviews Límite: Adult / Child / Humans Idioma: En Año: 2022 Tipo del documento: Article

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