A Case of Waardenburg Syndrome Type 2 With Anisocoria
Journal of the Korean Ophthalmological Society
;
: 1423-1426, 2010.
Artículo
en Coreano
| WPRIM
| ID: wpr-220345
ABSTRACT
PURPOSE:
To report a case of Type 2 Waardenburg syndrome with anisocoria. CASESUMMARY:
A 53-year-old woman with congenital deafness visited the clinic complaining of photophobia and heterochromic iris in the left eye. Her best-corrected visual acuity was 1.0 in the right eye and 0.7 in the left eye. The patient's left eye showed complete iris hypopigmentation, and the right eye showed segmental iris hypopigmentation. Fundus examination demonstrated generalized decrease in retinal pigment with focal hypopigmented lesions in both eyes. The pupil sizes were 3 mm in the right eye and 5 mm in the left eye. A pure tone audiogram showed profound bilateral sensorineural hearing loss.CONCLUSIONS:
In the present case, mydriasis was found to exist in a completely hypopigmented iris. Therefore, the neural crest from which the pupillary constrictor muscle originates may play a role in the pathogenesis of Waardenburg syndrome.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Retinaldehído
/
Síndrome de Waardenburg
/
Agudeza Visual
/
Anisocoria
/
Midriasis
/
Pupila
/
Iris
/
Hipopigmentación
/
Fotofobia
/
Sordera
Límite:
Femenino
/
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Ophthalmological Society
Año:
2010
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS