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Syndromic Retinitis Pigmentosa: A 15-Patient Study.
Holanda, Ianne Pessoa; Rim, Priscila Hae Hyun; Guaragna, Mara Sanches; Gil-da-Silva-Lopes, Vera Lúcia; Steiner, Carlos Eduardo.
Afiliación
  • Holanda IP; Genética Médica e Medicina Genômica, Departamento de Medicina Translacional, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-888, SP, Brazil.
  • Rim PHH; Ambulatório de Genética Ocular, Departamento de Oftalmologia e Otorrinolaringologia, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-888, SP, Brazil.
  • Rare Genomes Project Consortium; Serviço de Genética Molecular, Departamento de Medicina Laboratorial, Hospital Israelita Albert Einstein (HIAE), São Paulo 05652-900, SP, Brazil.
  • Guaragna MS; Genética Médica e Medicina Genômica, Departamento de Medicina Translacional, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-888, SP, Brazil.
  • Gil-da-Silva-Lopes VL; Genética Médica e Medicina Genômica, Departamento de Medicina Translacional, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-888, SP, Brazil.
  • Steiner CE; Genética Médica e Medicina Genômica, Departamento de Medicina Translacional, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-888, SP, Brazil.
Genes (Basel) ; 15(4)2024 04 20.
Article en En | MEDLINE | ID: mdl-38674450
ABSTRACT
Retinitis pigmentosa is a group of genetically determined retinal dystrophies characterized by primary photoreceptor apoptosis and can occur in isolated or syndromic conditions. This study reviewed the clinical data of 15 patients with syndromic retinitis pigmentosa from a Rare Disease Reference Center in Brazil and the results of their next-generation sequencing tests. Five males and ten females participated, with the mean ages for ocular disease onset, fundoscopic diagnosis, and molecular evaluation being 9, 19, and 29 years, respectively. Bardet-Biedl syndrome (n = 5) and Usher syndrome (n = 3) were the most frequent diagnoses, followed by other rare conditions. Among the patients, fourteen completed molecular studies, with three negative results and eleven revealing findings in known genes, including novel variants in MKKS (c.432_435del, p.Phe144Leufs*14), USH2A (c.(7301+1_7302-1)_(9369+1_9370-1)del), and CEP250 (c.5383dup, p.Glu1795Glyfs*13, and c.5050del, p.Asp1684Thrfs*9). Except for Kearn-Sayre, all presented an autosomal recessive inheritance pattern with 64% homozygosity results. The long gap between symptom onset and diagnosis highlights the diagnostic challenges faced by the patients. This study reaffirms the clinical heterogeneity of syndromic retinitis pigmentosa and underscores the pivotal role of molecular analysis in advancing our understanding of these diseases.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Retinitis Pigmentosa Límite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged País/Región como asunto: America do sul / Brasil Idioma: En Revista: Genes (Basel) Año: 2024 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Retinitis Pigmentosa Límite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged País/Región como asunto: America do sul / Brasil Idioma: En Revista: Genes (Basel) Año: 2024 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Suiza