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Di Iorio V, Karali M, Brunetti-Pierri R, et al. Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies. Genes (Basel). 2017;8(10)doi: 10.3390/genes8100280.
Di Iorio, V., Karali, M., Brunetti-Pierri, R., Filippelli, M., Di Fruscio, G., Pizzo, M., Mutarelli, M., Nigro, V., Testa, F., Banfi, S., & Simonelli, F. (2017). Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies. Genes, 8(10), . https://doi.org/10.3390/genes8100280
Di Iorio, Valentina, et al. "Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies." Genes vol. 8,10 (2017). doi: https://doi.org/10.3390/genes8100280
Di Iorio V, Karali M, Brunetti-Pierri R, Filippelli M, Di Fruscio G, Pizzo M, Mutarelli M, Nigro V, Testa F, Banfi S, Simonelli F. Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies. Genes (Basel). 2017 Oct 20;8(10). doi: 10.3390/genes8100280. PMID: 29053603; PMCID: PMC5664130.
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Genes (Basel). 2017 Oct 20;8(10). doi: 10.3390/genes8100280.

Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies.

Genes

Valentina Di Iorio, Marianthi Karali, Raffaella Brunetti-Pierri, Mariaelena Filippelli, Giuseppina Di Fruscio, Mariateresa Pizzo, Margherita Mutarelli, Vincenzo Nigro, Francesco Testa, Sandro Banfi, Francesca Simonelli

Affiliations

  1. Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania Luigi Vanvitelli, via Pansini 5, Naples 80131, Italy. [email protected].
  2. Medical Genetics, Department of Biochemistry, Biophysics and General Pathology, Università degli Studi della Campania Luigi Vanvitelli, via Luigi De Crecchio 7, Naples 80138, Italy. [email protected].
  3. Telethon Institute of Genetics and Medicine, via Campi Flegrei 34, Pozzuoli 80078, Italy. [email protected].
  4. Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania Luigi Vanvitelli, via Pansini 5, Naples 80131, Italy. [email protected].
  5. Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania Luigi Vanvitelli, via Pansini 5, Naples 80131, Italy. [email protected].
  6. Medical Genetics, Department of Biochemistry, Biophysics and General Pathology, Università degli Studi della Campania Luigi Vanvitelli, via Luigi De Crecchio 7, Naples 80138, Italy. [email protected].
  7. Telethon Institute of Genetics and Medicine, via Campi Flegrei 34, Pozzuoli 80078, Italy. [email protected].
  8. Telethon Institute of Genetics and Medicine, via Campi Flegrei 34, Pozzuoli 80078, Italy. [email protected].
  9. Medical Genetics, Department of Biochemistry, Biophysics and General Pathology, Università degli Studi della Campania Luigi Vanvitelli, via Luigi De Crecchio 7, Naples 80138, Italy. [email protected].
  10. Telethon Institute of Genetics and Medicine, via Campi Flegrei 34, Pozzuoli 80078, Italy. [email protected].
  11. Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania Luigi Vanvitelli, via Pansini 5, Naples 80131, Italy. [email protected].
  12. Medical Genetics, Department of Biochemistry, Biophysics and General Pathology, Università degli Studi della Campania Luigi Vanvitelli, via Luigi De Crecchio 7, Naples 80138, Italy. [email protected].
  13. Telethon Institute of Genetics and Medicine, via Campi Flegrei 34, Pozzuoli 80078, Italy. [email protected].
  14. Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania Luigi Vanvitelli, via Pansini 5, Naples 80131, Italy. [email protected].

PMID: 29053603 PMCID: PMC5664130 DOI: 10.3390/genes8100280

Abstract

We performed a clinical and genetic characterization of a pediatric cohort of patients with inherited retinal dystrophy (IRD) to identify the most suitable cases for gene therapy. The cohort comprised 43 patients, aged between 2 and 18 years, with severe isolated IRD at the time of presentation. The ophthalmological characterization also included assessment of the photoreceptor layer integrity in the macular region (ellipsoid zone (EZ) band). In parallel, we carried out a targeted, next-generation sequencing (NGS)-based analysis using a panel that covers over 150 genes with either an established or a candidate role in IRD pathogenesis. Based on the ophthalmological assessment, the cohort was composed of 24 Leber congenital amaurosis, 14 early onset retinitis pigmentosa, and 5 achromatopsia patients. We identified causative mutations in 58.1% of the cases. We also found novel genotype-phenotype correlations in patients harboring mutations in the

Keywords: Leber congenital amaurosis; achromatopsia; early onset; ellipsoid zone; genotype-phenotype correlation; inherited retinal dystrophies; next generation sequencing; retinitis pigmentosa

Conflict of interest statement

The authors declare no conflict of interest.

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