{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 manifestations depends on the degree of retinal pigmentation.

Molecular and clinical characterization of albinism in a large cohort of Italian patients / A., Gargiulo; F., Testa; S., Rossi; V. D., Iorio; S., Fecarotta; T. d., Berardinis; A., Iovine; A., Magli; S., Signorini; E., Fazzi; M. S., Galantuomo; M., Fossarello; S., Montefusco; A., Ciccodicola; Neri, Alberto; Macaluso, Claudio; F., Simonelli; E. M., Surace. - In: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. - ISSN 1552-5783. - 52(2011), pp. 1281-1289. [10.1167/iovs.10-6091]

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

NERI, Alberto;MACALUSO, Claudio;
2011

Abstract

{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 manifestations depends on the degree of retinal pigmentation.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11381/2637081
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