ABSTRACT
Se realizó la presentación clínica de una paciente que acude a consulta oftalmológica para seguimiento por glaucoma, y a la cual se le diagnostica una anomalía de Axenfeld-Rieger por presentar de forma bilateral y asimétricas las alteraciones en el segmento anterior del ojo, típicas de esta rara enfermedad ocular como son: un anillo de Schwalbe prominente y desplazado hacia delante, adherencias iridocorneales, y atrofia estromal del iris. Esta anomalía pertenece al grupo de las llamadas disgenesias iridocorneales que suelen cursar con hipertensión ocular secundaria, de ahí su importancia desde el punto de vista oftalmológico. La tensión ocular de esta paciente se ha mantenido controlada con tratamiento médico.
We made the clinical presentation of a female patient who assisted the ophthalmologic consultation to follow her by glaucoma and was diagnosed with an Axenfeld-Rieger anomaly for presenting, in a bilateral and asymmetric way. the alterations in the anterior segment of the eye that are typical of this rare ocular disease such as: a prominent Schwalbe ring displaced forward, irido-corneal adherences, and stromatic atrophy of the iris. This anomaly belongs to the group of the so called irido-corneal dysgenics that generally develops with a secondary ocular hypertension, being that the feature of its importance from the ophthalmologic point of view. The ocular tension of the patients has been kept under control with medical treatment.
Subject(s)
Humans , Female , Middle Aged , Anterior Eye Segment/abnormalities , Case ReportsABSTRACT
A 6-year old boy presented with mental retardation, hypotonia, abnormal facies, impaired hearing, protuberant eyes, visual impairment, short stature, Axenfeld- Rieger anomaly, a bicuspid aortic valve, and bilateral sensorineural deafness. CT scan of head suggested dysmyelination of the subcortical and periventricular white matter. FISH revealed a subtelomeric microdeletion encompassing both FOXC1 and FOXF2 loci within 6p25. Dysmyelination of the central nervous system has been infrequently described earlier in patients with 6p25 deletion.