ArticleInvestigative ophthalmology & visual science2011
Molecular and clinical characterization of albinism in a large cohort of Italian patients.
Article in Investigative ophthalmology & visual science, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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25 citing papers in PubMed, 70 citations in OpenAlex.
- Pigmentation Pattern of Iris and Fundus in 75 Chinese Families With GPR143-Associated Ocular Albinism.Investigative ophthalmology & visual science · 2025Article
- Article
- Identification of novel variations of oculocutaneous albinism type 2 with Prader-Willi syndrome/Angelman syndrome in two Chinese families.Frontiers in genetics · 2023Article
- Phenotypic variations in ocular features among siblings with oculocutaneous albinism.Indian journal of ophthalmology · 2022Article
- NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism.BMC genomics · 2022Article
- Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B).NPJ genomic medicine · 2022Article
- Dopachrome tautomerase variants in patients with oculocutaneous albinism.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism.Frontiers in genetics · 2021Article
- Non-syndromic Oculocutaneous Albinism: Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort.Frontiers in genetics · 2020Article
- Identification of a Homozygous Missense Mutation in the TYR Gene in a Chinese Family with OCA1.Current medical science · 2018Article
- Burden of albinism: development and validation of a burden assessment tool.Orphanet journal of rare diseases · 2018Article
- Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).Scientific reports · 2017Article
- Delineating the genetic heterogeneity of OCA in Hungarian patients.European journal of medical research · 2017Article
- Clinical evaluation and molecular screening of a large consecutive series of albino patients.Journal of human genetics · 2017Article
- Mutation analysis of a Chinese family with oculocutaneous albinism.Oncotarget · 2016Article
- Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations.Journal of human genetics · 2016Article
- N-Ethylmaleimide-Sensitive Factor b (nsfb) Is Required for Normal Pigmentation of the Zebrafish Retinal Pigment Epithelium.Investigative ophthalmology & visual science · 2015Article
- Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites.Journal of human genetics · 2015Article
- Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.Molecular vision · 2015Article
- Mutational analysis of oculocutaneous albinism: a compact review.BioMed research international · 2014Review
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18 authors at 7 institutions in 1 country.
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Abstract
purposeThe 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.
methodsDNA 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.
resultsDisease-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.
conclusionsTYR 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 manifestations depends on the degree of retinal pigmentation.
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