RESUMEN
Adams-Oliver syndrome (AOS) is a rare inherited disorder characterized by aplasia cutis congenita, cutis marmorata telangiectatica congenita, and terminal limb defects. Ocular associations have been rarely reported. We report a 6-month-old boy with AOS associated with refractory glaucoma, megalocornea, and anterior polar cataract. To our knowledge, this is the first case of glaucoma to be reported in association with AOS.
Asunto(s)
Displasia Ectodérmica , Glaucoma , Humanos , Masculino , Displasia Ectodérmica/diagnóstico , Displasia Ectodérmica/complicaciones , Displasia Ectodérmica/genética , Lactante , Glaucoma/diagnóstico , Glaucoma/congénito , Glaucoma/complicaciones , Catarata/congénito , Catarata/diagnóstico , Deformidades Congénitas de las Extremidades/diagnóstico , Deformidades Congénitas de las Extremidades/genética , Dermatosis del Cuero Cabelludo/congénito , Dermatosis del Cuero Cabelludo/diagnóstico , Dermatosis del Cuero Cabelludo/genética , Presión Intraocular/fisiología , Enfermedades Hereditarias del Ojo , Enfermedades Genéticas Ligadas al Cromosoma XRESUMEN
UNLABELLED: Glaucoma, a complex heterogenous disease, is the leading cause for optic nerve-related blindness worldwide. Primary open angle glaucoma (POAG) is the most common subset and by the year 2020 it is estimated that approximately 60 million people will be affected. MYOC, OPTN, CYP1B1 and WDR36 are the important candidate genes. Nearly 4% of the glaucoma patients have mutation in any one of these genes. Mutation in any of these genes causes disease either directly or indirectly and the severity of the disease varies according to position of the genes. We have compiled all the related mutations and SNPs in the above genes and developed a database, to help access statistical and clinical information of particular mutation. This database is available online at http:bicmku.in:8081/glaucoma The database, constructed using SQL, contains data pertaining to the SNPs and mutation information involved in the above genes and relevant study data. AVAILABILITY: The database is available for free at http:bicmku.in:8081/glaucoma.