Gustavo Victor1; Paloma Juni Godinho Campos2; Milton Ruiz Alves3; Walton Nosé1
DOI: 10.1590/S0004-27492004000300031
ABSTRACT
Cystinosis is a rare recessive autosomic disease characterized by the accumulation of the cystine amino acid inside the lysosomes, and it is generally fatal in the first decade of life in the absence of renal transplant. This study has the purpose to describe the in vivo confocal microscopy findings in a patient with infantile cystinosis. The in vivo confocal microscopy examination showed differences in intensity, size and shapes of the corneal deposits in the several corneal layers.
Keywords: Microscopy, confocal; Corneal stroma; Corneal diseases; Cystinosis; Case report
RESUMO
A cistinose é doença autossômica recessiva rara caracterizada pelo acúmulo do aminoácido cistina livre dentro dos lisossomos e geralmente é fatal na primeira década de vida na ausência de transplante renal. O presente estudo tem por objetivo relatar os achados da microscopia confocal in vivo em paciente adulto com cistinose infantil. O exame de microscopia confocal in vivo revelou que há diferenças quanto à intensidade de acometimento, tamanho e forma dos depósitos nas diversas camadas corneanas.
Descritores: Microscopia confocal; Estroma corneal; Doenças da córnea; Cistinose; Relato de caso
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