Case report: waardenburg syndrome.
OBJECTIVE
A case of Waardenburg syndrome type 1 is described and relevant literature is reviewed to raise awareness about this rare syndrome, including the classification of each subtype and the differentiating clinical manifestations.


METHODS
A 44-year-old African-American female presented for a routine evaluation with hearing loss, dystopia canthorum (W index = 2.74), and almost complete gray hair. In addition, she presented with heterochromia irides, different fundus pigmentation between eyes. The patient did not have any upper limbs defect, cranial skeletal abnormalities, or intestinal disorders.


CONCLUSIONS
Facial abnormalities and a white forelock are prominent features difficult to overlook during a routine ophthalmological examination. A careful medical history in patients with suspected Waardenburg syndrome is important to accurately classify this rare condition and to identify potential systemic implications associated to each subtype. The associated systemic complications can be addressed and managed through referral to the appropriate subspecialties.
Northeastern State University Oklahoma College of Optometry, 1001 North Grand Avenue, Tahlequah, OK 74464-7017.
Grace Lea
GL
Dumayas
Optometry Department, Womack Army Medical Center, 2817 Reilly Road, Stop A, Fort Bragg, NC 28310.
José E
JE
Capó-Aponte
D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D006200:Hair Color; D034381:Hearing Loss / Q000209:etiology; D006801:Humans; D007499:Iris Diseases / Q000209:etiology; D010859:Pigmentation Disorders / Q000209:etiology; D014481:United States; D014849:Waardenburg Syndrome / Q000150:complications / Q000175:diagnosis*