A Case of Waardenburg Syndrome Type 2 With Anisocoria
Journal of the Korean Ophthalmological Society
;
: 1423-1426, 2010.
Article
in Korean
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Retinaldehyde
/
Waardenburg Syndrome
/
Visual Acuity
/
Anisocoria
/
Mydriasis
/
Pupil
/
Iris
/
Hypopigmentation
/
Photophobia
/
Deafness
Limits:
Female
/
Humans
Language:
Korean
Journal:
Journal of the Korean Ophthalmological Society
Year:
2010
Type:
Article
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