Achados oculares em pacientes com mucopolissacaridoses / Ocular findings in patients with mucopolysaccharidosis

OBJETIVO: O objetivo deste estudo foi determinar a prevalência e gravidade das complicações oculares em pacientes com mucopolissacaridoses (MPS). MÉTODOS: Vinte e nove pacientes com diagnóstico de mucopolissacaridoses foram estudados. Foram avaliados: idade, sexo, acuidade visual, presença de estrabismo, erros refrativos, exame de fundo de olho, pressão intraocular, espessura corneal central e ultrassonografia ocular. RESULTADOS: Foram avaliados três pacientes com MPS I (12 por cento), 11 pacientes com MPS II (37,9 por cento), um paciente com MPS III (3,4 por cento) e 14 pacientes com MPS VI (48,3 por cento). A média de idade foi de 9,5 anos (DP 5,5). Observou-se hipermetropia em 88,5 por cento (23 pacientes) e astigmatismo em 51,7 por cento (15 pacientes). A média da acuidade visual corrigida foi de 0,45 logMAR (DP 0,68). A média do equivalente esférico foi +3,57 D (DP 2,46) e da pressão intraocular foi 17 mmHg (DP 3,9). Os achados mais comuns foram: espessamento palpebral 24,1 por cento (7 pacientes); opacidade da córnea, 55,2 por cento dos casos (16 pacientes); atrofia do nervo óptico, 23,1 por cento (6 pacientes); dobras radiais na retina 24 por cento (7 pacientes). O fundo de olho não foi examinado em 3 pacientes devido à opacidade de córnea. A média da espessura do complexo esclera-retina-coroide (ERC) medida por ultrassom foi de 1,78 mm (DP 0,51). CONCLUSÃO: Os achados oftalmológicos mais proeminentes foram espessamento palpebral, diminuição da acuidade visual, hipermetropia moderada, opacidade da córnea, dobras radiais na retina perimacular e atrofia do nervo óptico.

PURPOSE: The objective of this study was to determine the prevalence and severity of ocular complications in patients with mucopolysaccharidosis (MPS). METHODS: Twenty-nine patients with diagnosis of mucopolysaccharidosis were studied. Age, gender, visual acuity, presence of strabismus, refractive error, fundus examination, intraocular pressure, central corneal thickness and ocular echography were assessed for each individual. RESULTS: There were three patients with MPS I (12 percent), eleven patients with MPS II (37.9 percent), one patient with MPS III (3.4 percent) and fourteen patients with MPS VI (48.3 percent). Mean age was 9.5 years (ranged from 1.2 to 20 years, DP 5.5). Refraction was available in 26 patients, from which 88.5 percent (23 patients) were hyperopic, and 53.8 percent (14 patients) presented astigmatism. Best corrected visual acuity was available in 18 patients and the mean was 0.45 logMAR (DP 0.68). The mean spherical equivalent was +3.57 D (SD 2.46) and intraocular pressure was 17 mmHg (SD 3.9). The most common findings were: eyelid thickening in 24.1 percent (7 patients); corneal opacity in 55.2 percent of cases (16 patients); optic nerve atrophy in 23.1 percent (6 patients); and radial folds in the retina in 24 percent (7 patients). The fundus was examined in 26 out of 29 patients because corneal opacity avoided the exam in 3 of them. The average thickness of the complex sclera-retina-choroid (SRC was 1.78 mm (SD 0.51). CONCLUSION: The most prominent ophthalmologic findings were eyelid thickening, decreased visual acuity, high hyperopia, corneal opacity, perimacular radial folds in the retina and optic nerve atrophy.

[Ocular findings in patients with mucopolysaccharidosis]. / Achados oculares em pacientes com mucopolissacaridoses.

PURPOSE: The objective of this study was to determine the prevalence and severity of ocular complications in patients with mucopolysaccharidosis (MPS). METHODS: Twenty-nine patients with diagnosis of mucopolysaccharidosis were studied. Age, gender, visual acuity, presence of strabismus, refractive error, fundus examination, intraocular pressure, central corneal thickness and ocular echography were assessed for each individual. RESULTS: There were three patients with MPS I (12%), eleven patients with MPS II (37.9%), one patient with MPS III (3.4%) and fourteen patients with MPS VI (48.3%). Mean age was 9.5 years (ranged from 1.2 to 20 years, DP 5.5). Refraction was available in 26 patients, from which 88.5% (23 patients) were hyperopic, and 53.8% (14 patients) presented astigmatism. Best corrected visual acuity was available in 18 patients and the mean was 0.45 logMAR (DP 0.68). The mean spherical equivalent was +3.57 D (SD 2.46) and intraocular pressure was 17 mmHg (SD 3.9). The most common findings were: eyelid thickening in 24.1% (7 patients); corneal opacity in 55.2% of cases (16 patients); optic nerve atrophy in 23.1% (6 patients); and radial folds in the retina in 24% (7 patients). The fundus was examined in 26 out of 29 patients because corneal opacity avoided the exam in 3 of them. The average thickness of the complex sclera-retina-choroid (SRC was 1.78 mm (SD 0.51). CONCLUSION: The most prominent ophthalmologic findings were eyelid thickening, decreased visual acuity, high hyperopia, corneal opacity, perimacular radial folds in the retina and optic nerve atrophy.