RESUMO
PURPOSE: To report the genetic basis for congenital glaucoma with clinical aniridia in an infant and a milder phenotype in her mother. METHODS: Prospective case series. RESULTS: An infant girl with almost complete lack of iris tissue was referred and treated for congenital glaucoma. Although the presumed clinical diagnosis was aniridia (On-line Mendelian Inheritance in Man [OMIM] AN2, # 106210), PAX6 sequencing was normal. Examination of the infant's mother was significant for Axenfeld-Rieger malformation (ARM): prominent Schwabe line, subtle iris hypoplasia, iris stands bridging the angle, increased intraocular pressure, and glaucomatous optic nerve cupping. Both parents and the infant underwent diagnostic FOXC1 DNA sequencing. A heterozygous M161K FOXC1 mutation was found in the infant and her mother but not in the father, who had a normal ocular examination. DISCUSSION: The spectrum of intrafamilial phenotypic variation associated with heterozygous FOXC1 mutation can be wide. FOXC1 mutation can be a cause of congenital glaucoma with clinical aniridia. Although such infants resemble the AN2 phenotype, the glaucoma of AN2 due to PAX6 mutation is typically secondary with onset several years after birth.
Assuntos
Aniridia/genética , Fatores de Transcrição Forkhead/genética , Glaucoma/genética , Iris/anormalidades , Mutação/genética , Aniridia/tratamento farmacológico , Proteínas do Olho/genética , Feminino , Genótipo , Glaucoma/congênito , Heterozigoto , Proteínas de Homeodomínio/genética , Humanos , Recém-Nascido , Masculino , Fator de Transcrição PAX6 , Fatores de Transcrição Box Pareados/genética , Pais , Fenótipo , Reação em Cadeia da Polimerase , Prognóstico , Proteínas Repressoras/genéticaRESUMO
El Síndrome de Waardenburg representa la forma más común de sordera congénita; es una condición pleitrópica, autosómica dominante, con penetrancia y expresividad variable. Se describen dos casos clínicos de Síndrome de Waardenburg tipo II. Las principales manifestaciones son la sordera sensorioneural congénita, alteraciones de la pigmentación pilosa y cutánea, puente nasal ancho, hipertricosis de las cejas, mandíbula cuadrada, encanecimiento prematuro y alteraciones neurológicas. Se revisan los criterios de diagnóstico de la enfermedad y los hallazgos asociados descritos de la literatura