Molecular and clinical characterization of albinism in a large cohort of Italian patients

Annagiusi Gargiulo, Francesco Testa, Settimio Rossi, Valentina di Iorio, Simona Fecarotta, Teresa de Berardinis, Antonello Iovine, Adriano Magli, Sabrina Signorini, Elisa Fazzi, Maria Silvana Galantuomo, Maurizio Fossarello, Sandro Montefusco, Alfredo Ciccodicola, Alberto Neri, Claudio Macaluso, Francesca Simonelli, Enrico Maria Surace

Research output: Contribution to journalArticlepeer-review


PURPOSE. The purpose of this study was to identify the molecular basis of albinism in a large cohort of Italian patients showing typical ocular landmarks of the disease and to provide a full characterization of the clinical ophthalmic manifestations. METHODS. DNA samples from 45 patients with ocular manifestations of albinism were analyzed by direct sequencing analysis of five genes responsible for albinism: TYR, P, TYRP1, SLC45A2 (MATP), and OA1. All patients studied showed a variable degree of skin and hair hypopigmentation. Eighteen patients with distinct mutations in each gene associated with OCA were evaluated by detailed ophthalmic analysis, optical coherence tomography (OCT), and fundus autofluorescence. RESULTS. Disease-causing mutations were identified in more than 95% of analyzed patients with OCA (28/45 [62.2%] cases with two or more mutations; 15/45 [33.3%] cases with one mutation). Thirty-five different mutant alleles were identified of which 15 were novel. Mutations in TYR were the most frequent (73.3%), whereas mutations in P occurred more rarely (13.3%) than previously reported. Novel mutations were also identified in rare loci such as TYRP1 and MATP. Mutations in the OA1 gene were not detected. Clinical assessment revealed that patients with iris and macular pigmentation had significantly higher visual acuity than did severe hypopigmented phenotypes. CONCLUSIONS. TYR gene mutations represent a relevant cause of oculocutaneous albinism in Italy, whereas mutations in P present a lower frequency than that found in other populations. Clinical analysis revealed that the severity of the ocular anifestations depends on the degree of retinal pigmentation.

Original languageEnglish
Pages (from-to)1281-1289
Number of pages9
JournalInvestigative Ophthalmology and Visual Science
Issue number3
Publication statusPublished - Mar 2011

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience


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