ABSTRACT
La enfermedad de Fabry (EF) es una patología genética rara ligada al cromosoma X, de depósito lisosomal, por la deficiencia de la enzima alfa-galactosidasa A, que produce la acumulación de globotriaosilceramida, ocasionando afectación renal, cardiaca, oftalmológica y del sistema nervioso. Objetivo: Realizar un análisis descriptivo de las manifestaciones oftalmológicas en pacientes mexicanos con EF. Material y métodos: Se incluyeron 13 pacientes con diagnóstico clínico y bioquímico de EF. Resultados: La córnea verticilata se encontró en el 57% de varones y en el 33% de portadoras. Conclusión: La córnea verticilata es la manifestación oftalmológica más frecuente en varones afectados y portadoras de EF en México(AU)
Fabry disease (FD) is a rare X-linked genetic lysosomal storage disease caused by a deficiency of the enzyme alpha-galactosidase A, that produces accumulation of globotriaosylceramide. There is a multisystemic involvement, including renal, cardiac, eye, and nervous system manifestations. Aim: To perform a descriptive analysis of the ophthalmological manifestations in Mexican patients with FD. Material and methods: We studied 13 patients with clinical and biochemical diagnostic of FD. Results: Cornea verticillata was found in 57% of men and 33% carriers. Conclusion: Cornea verticillata was the most common ocular manifestation in males and carriers of FD in Mexico(AU)
Subject(s)
Humans , Male , Female , Fabry Disease/complications , Fabry Disease/diagnosis , Eye Diseases/complications , Eye Diseases/diagnosis , Cataract/complications , Eye Diseases/physiopathology , Cornea/metabolism , Cornea/pathology , Corneal Diseases/physiopathologyABSTRACT
UNLABELLED: Fabry disease (FD) is a rare X-linked genetic lysosomal storage disease caused by a deficiency of the enzyme α-galactosidase A, that produces accumulation of globotriaosylceramide. There is a multisystemic involvement, including renal, cardiac, eye, and nervous system manifestations. AIM: To perform a descriptive analysis of the ophthalmological manifestations in Mexican patients with FD. MATERIAL AND METHODS: We studied 13 patients with clinical and biochemical diagnostic of FD. RESULTS: Cornea verticillata was found in 57% of men and 33% carriers. CONCLUSION: Cornea verticillata was the most common ocular manifestation in males and carriers of FD in Mexico.
Subject(s)
Corneal Opacity/etiology , Fabry Disease/complications , Adolescent , Adult , Cataract/epidemiology , Cataract/etiology , Conjunctival Diseases/epidemiology , Conjunctival Diseases/etiology , Corneal Opacity/epidemiology , Fabry Disease/epidemiology , Female , Genotype , Humans , Incidence , Male , Mexico/epidemiology , Middle Aged , Retinal Vessels/abnormalities , Young AdultABSTRACT
Gingival fibromatosis can be present as an isolated form or be part of a genetic disease. The Zimmermann-Laband syndrome (ZLS) is a rare disorder inherited as an autosomal dominant fashion, clinically characterized by gingival fibromatosis, bulbous soft nose, thick floppy ears, nail dysplasia, joint hyperextensibility, hepatosplenomegaly, skeletal anomalies and occasional mental retardation. We studied a girl aged five years with clinical and radiological features of the ZLS, additionally she presented deafness not previously described in the ZLS, as only partial hearing loss was reported in some patients. The father presented some facial features suggestive of ZLS, nevertheless he did not have gingival fibromatosis or hypertrichosis. We suggest that this case supports that ZLS can be part a contiguous genes syndrome or be consequence ofa gene mutation with wide variable expression. The present report supports that ZLS has a wide clinical spectrum.
