O albinismo e uma alteracao genetica rara que compromete a producao de melanina. As alteracoes clinicas consistem na falta de pigmentacao da pele, cabelo e pelos. Apresenta alteracoes oftalmologicas importantes, que comprometem a acuidade visual de forma severa, na grande maioria dos casos. As alteracoes oftalmologicas sao, ametropias, nistagmo, rarefacao do epitelio pigmentado da iris e da retina, hipoplasia foveal e decussacao anomala do nervo optico. Este estudo foi dividido em tres diferentes partes com os seguintes objetivos principais: Parte 1: Analise comparativa entre o grau de transparencia da iris (GTI), o grau de transparencia da retina (GTR) e a espessura da regiao macular com a acuidade visual nos pacientes com albinismo. Parte 2: Teste de sensibilidade ao contraste espacial de luminancia e ofuscamento com lentes de contato filtrantes em ambientes claros e escuros. Parte 3: Avaliacao da visao de cores, utilizando\\se o teste de Pranchas de Ishihara e o Cambridge Color Test (CCT). Material\' e\' Métodos: Participaram do estudo 121 individuos albinos, com idade media de 31,18 (} 15,47) anos, o que totalizou 242 olhos. Os participantes foram divididos em diferentes grupos nas tres partes do estudo, alguns participaram de uma ou mais partes. Na primeira parte os participantes foram submetidos a consulta oftalmologica, classificacao do grau de transparencia da iris e da retina em uma nova classificacao baseada em quatro diferentes graus de transparencia, alem de avaliacao foveal pelo exame de Tomografia de Coerencia Optica (OCT). Na segunda parte, os participantes foram submetidos ao teste de contraste computadorizado, utilizando lentes de contato filtrante e transparentes, em ambientes claros e escuros. Nesta etapa foi avaliada a influencia da lente filtrante na sensibilidade de contraste visual dos individuos com albinismo. Na terceira parte, os participantes foram submetidos aos testes de Pranchas de Ishihara e de Cambridge Colour Test (CCT), para avaliacao da visao de cores nos pacientes albinos. Resultados: Os resultados foram os seguintes: Parte\'1: A correlacao entre AV logMAR e GTI foi positiva (+0,569) e significativa (p<0,001). A correlacao entre AV logMAR e GTR foi positiva (+0,531) e significativa (p<0,001). A correlacao entre AV logMAR e a espessura macular nao foi significativa (p=0,105). A correlacao entre GTI e GTR foi positiva (+ 0,627) e significativa (p<0,001). A correlacao entre espessura macular e GTI nao foi significativa (p=0,397). A correlacao entre espessura macular e GTR nao foi significativa (p=0,458). Parte 2: Houve melhora estatisticamente significante da sensibilidade ao contraste com as lentes filtrantes em relacao as lentes transparentes no ambiente de ofuscamento (claro), na frequencia de 0,3 cpg, 0,6 cpg e 1,0 cpg (ciclos por grau). Nao houve melhora significante nas frequencia 2,0 cpg e 4,0 cpg. Nao houve melhora estatisticamente significante da sensibilidade ao contraste de lentes filtrantes em relacao as lentes transparentes no ambiente escuro (penumbra) em nenhuma das frequencias espaciais estudadas. Parte\' 3: Todos os individuos com albinismo nao apresentaram nenhuma alteracao de visao de cores no teste de Pranchas de Ishihara. O CCT demonstrou piora no limiar de deteccao de cores significativa nos eixos protan (p=0,021) e deutan (p=0,017), mas nao houve diferenca no eixo tritan (p=0,212). Os testes estatisticos sugerem que uma amostra maior seja estudada para validacao dos resultados / Albinism is a rare genetic alteration that compromises the production of melanine in all body tissues. The clinical alterations are the lack of pigment in the skin and hair. It presents important ophthalmological changes that compromise the visual acuity, in most cases. The ophthalmological changes are: ametropia, nystagmus, iris pigmented epithelium rarefaction, retina pigmented epithelium rarefaction, foveal hipoplasia and abnormal optic nerve decussation. This study has been divided in three different parts and had the following main objectives: Part 1, comparative analysis of the iris transparency degree (ITD), the retina transparency degree (RTD) and macular thickness with the visual acuity in albino patients. Part 2: Spatial contrast sensitivity test of luminance and outshine wearing contact lenses with filters in light and dark environments. Part 3: color vision evaluation using the Ishihara Test and the Cambridge Color Test (CCT). For the study 121 individuals with albinism were included with an average of 31,18 years old } 15,47, a total of 242 eyes. The participants were divided in different groups in the three parts of the study, some participated in one or more parts. In the first part the participants have been through an ophthalmological exam, classification of the iris transparency degree (ITD) and the retinal transparency degree (RTD) by a new classification based in 4 different degrees of transparency. Foveal evaluation by the Optic Coherence Tomography exam (OCT) was made in the first part of this study. In the second part, the participants have been submitted to the computerized contrast test, using filtered and transparent contact lenses in light and dark environments. In this part the influence of the filtering lenses in the visual contrast sensitivity in the albinism patients has been evaluated. In the third part, the participants have been submitted to Ishihara Test and Cambridge Color Test in order to evaluate the color vision in albino patients. The results are as follows: Part\' 1: the correlation between visual acuity in Logarithm of the Minimum Angle of Resolution (logMAR) and ITD was positive (+0,569) and significant (p<0,001). The correlation between visual acuity in logMAR and RTD was positive (+0,531) and significant (p<0,001). The correlation between visual acuity in logMAR and the macular thickness was not significant (p=0,105). The correlation between ITD and RTD was positive (+ 0,627) and significant (p<0,001). The correlation between the macular thickness and the ITD was not significant (p=0,397). The correlation between the macular thickness and the RTD was not significant (p=0,458). Part\'2: There has been a statistically significant improvement of the contrast sensitivity wearing the filtering lenses in relation to the transparent ones in bright environment, in the frequencies of 0,3 cycles per degree (cpd), 0,6 cpd and 1,0 cpd. There has been no significant improvement in the frequencies 2,0 cpd and 4,0 cpd. There has been no statistically significant improvement in contrast sensitivity wearing the filtering lenses in relation to the transparent one in the dark environment (shadow) in any of the spatial frequencies studied. Part\' 3: all albinism patients did not present any color vision change in the Ishihara Test. The CCT has shown a worsening in the color detection threshold in the protan axis (p=0,021) and deutan axis (p=0,017), but there has been no difference in the tritan axis (p=0,212). The statistic tests show that a bigger sample is recommended to confirm part 3 results

O albinismo e uma alteracao genetica rara que compromete a producao de melanina. As alteracoes clinicas consistem na falta de pigmentacao da pele, cabelo e pelos. Apresenta alteracoes oftalmologicas importantes, que comprometem a acuidade visual de forma severa, na grande maioria dos casos. As alteracoes oftalmologicas sao, ametropias, nistagmo, rarefacao do epitelio pigmentado da iris e da retina, hipoplasia foveal e decussacao anomala do nervo optico. Este estudo foi dividido em tres diferentes partes com os seguintes objetivos principais: Parte 1: Analise comparativa entre o grau de transparencia da iris (GTI), o grau de transparencia da retina (GTR) e a espessura da regiao macular com a acuidade visual nos pacientes com albinismo. Parte 2: Teste de sensibilidade ao contraste espacial de luminancia e ofuscamento com lentes de contato filtrantes em ambientes claros e escuros. Parte 3: Avaliacao da visao de cores, utilizando\\se o teste de Pranchas de Ishihara e o Cambridge Color Test (CCT). Material\' e\' Métodos: Participaram do estudo 121 individuos albinos, com idade media de 31,18 (} 15,47) anos, o que totalizou 242 olhos. Os participantes foram divididos em diferentes grupos nas tres partes do estudo, alguns participaram de uma ou mais partes. Na primeira parte os participantes foram submetidos a consulta oftalmologica, classificacao do grau de transparencia da iris e da retina em uma nova classificacao baseada em quatro diferentes graus de transparencia, alem de avaliacao foveal pelo exame de Tomografia de Coerencia Optica (OCT). Na segunda parte, os participantes foram submetidos ao teste de contraste computadorizado, utilizando lentes de contato filtrante e transparentes, em ambientes claros e escuros. Nesta etapa foi avaliada a influencia da lente filtrante na sensibilidade de contraste visual dos individuos com albinismo. Na terceira parte, os participantes foram submetidos aos testes de Pranchas de Ishihara e de Cambridge Colour Test (CCT), para avaliacao da visao de cores nos pacientes albinos. Resultados: Os resultados foram os seguintes: Parte\'1: A correlacao entre AV logMAR e GTI foi positiva (+0,569) e significativa (p<0,001). A correlacao entre AV logMAR e GTR foi positiva (+0,531) e significativa (p<0,001). A correlacao entre AV logMAR e a espessura macular nao foi significativa (p=0,105). A correlacao entre GTI e GTR foi positiva (+ 0,627) e significativa (p<0,001). A correlacao entre espessura macular e GTI nao foi significativa (p=0,397). A correlacao entre espessura macular e GTR nao foi significativa (p=0,458). Parte 2: Houve melhora estatisticamente significante da sensibilidade ao contraste com as lentes filtrantes em relacao as lentes transparentes no ambiente de ofuscamento (claro), na frequencia de 0,3 cpg, 0,6 cpg e 1,0 cpg (ciclos por grau). Nao houve melhora significante nas frequencia 2,0 cpg e 4,0 cpg. Nao houve melhora estatisticamente significante da sensibilidade ao contraste de lentes filtrantes em relacao as lentes transparentes no ambiente escuro (penumbra) em nenhuma das frequencias espaciais estudadas. Parte\' 3: Todos os individuos com albinismo nao apresentaram nenhuma alteracao de visao de cores no teste de Pranchas de Ishihara. O CCT demonstrou piora no limiar de deteccao de cores significativa nos eixos protan (p=0,021) e deutan (p=0,017), mas nao houve diferenca no eixo tritan (p=0,212). Os testes estatisticos sugerem que uma amostra maior seja estudada para validacao dos resultados / Albinism is a rare genetic alteration that compromises the production of melanine in all body tissues. The clinical alterations are the lack of pigment in the skin and hair. It presents important ophthalmological changes that compromise the visual acuity, in most cases. The ophthalmological changes are: ametropia, nystagmus, iris pigmented epithelium rarefaction, retina pigmented epithelium rarefaction, foveal hipoplasia and abnormal optic nerve decussation. This study has been divided in three different parts and had the following main objectives: Part 1, comparative analysis of the iris transparency degree (ITD), the retina transparency degree (RTD) and macular thickness with the visual acuity in albino patients. Part 2: Spatial contrast sensitivity test of luminance and outshine wearing contact lenses with filters in light and dark environments. Part 3: color vision evaluation using the Ishihara Test and the Cambridge Color Test (CCT). For the study 121 individuals with albinism were included with an average of 31,18 years old } 15,47, a total of 242 eyes. The participants were divided in different groups in the three parts of the study, some participated in one or more parts. In the first part the participants have been through an ophthalmological exam, classification of the iris transparency degree (ITD) and the retinal transparency degree (RTD) by a new classification based in 4 different degrees of transparency. Foveal evaluation by the Optic Coherence Tomography exam (OCT) was made in the first part of this study. In the second part, the participants have been submitted to the computerized contrast test, using filtered and transparent contact lenses in light and dark environments. In this part the influence of the filtering lenses in the visual contrast sensitivity in the albinism patients has been evaluated. In the third part, the participants have been submitted to Ishihara Test and Cambridge Color Test in order to evaluate the color vision in albino patients. The results are as follows: Part\' 1: the correlation between visual acuity in Logarithm of the Minimum Angle of Resolution (logMAR) and ITD was positive (+0,569) and significant (p<0,001). The correlation between visual acuity in logMAR and RTD was positive (+0,531) and significant (p<0,001). The correlation between visual acuity in logMAR and the macular thickness was not significant (p=0,105). The correlation between ITD and RTD was positive (+ 0,627) and significant (p<0,001). The correlation between the macular thickness and the ITD was not significant (p=0,397). The correlation between the macular thickness and the RTD was not significant (p=0,458). Part\'2: There has been a statistically significant improvement of the contrast sensitivity wearing the filtering lenses in relation to the transparent ones in bright environment, in the frequencies of 0,3 cycles per degree (cpd), 0,6 cpd and 1,0 cpd. There has been no significant improvement in the frequencies 2,0 cpd and 4,0 cpd. There has been no statistically significant improvement in contrast sensitivity wearing the filtering lenses in relation to the transparent one in the dark environment (shadow) in any of the spatial frequencies studied. Part\' 3: all albinism patients did not present any color vision change in the Ishihara Test. The CCT has shown a worsening in the color detection threshold in the protan axis (p=0,021) and deutan axis (p=0,017), but there has been no difference in the tritan axis (p=0,212). The statistic tests show that a bigger sample is recommended to confirm part 3 results