Diagnosis of oculocutaneous albinism with molecular analysis.
OBJECTIVE
To use molecular analysis to diagnose oculocutaneous albinism in a patient with an atypical clinical presentation.


METHODS
A 34-year-old woman with a history of strabismus and absent cutaneous pigment underwent comprehensive ophthalmic examination, visual-evoked potentials to detect altered optic decussation, and molecular analysis.


RESULTS
Examination showed fine nystagmus, iris transillumination, foveal hypoplasia, and corrected visual acuity of 20/25 in each eye. Misrouting of the retinostriate fibers was demonstrated with visual-evoked potentials. Mutations in the tyrosinase gene established the diagnosis of oculocutaneous albinism 1 even though the patient had atypical clinical features.


CONCLUSIONS
Molecular analysis can establish the diagnosis of oculocutaneous albinism 1 in the patient with atypical ocular features.
Summers
C G
CG
Department of Ophthalmology, University of Minnesota, USA.
Oetting
W S
WS
King
R A
RA
D000328:Adult; D016115:Albinism, Oculocutaneous / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D004948:Esotropia / Q000150:complications; D005074:Evoked Potentials, Visual; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D008967:Molecular Biology; D014442:Monophenol Monooxygenase / Q000235:genetics*; D009154:Mutation; D009759:Nystagmus, Pathologic / Q000150:complications; D012160:Retina / Q000002:abnormalities / Q000473:pathology; D014792:Visual Acuity
D014442:Monophenol Monooxygenase