SYMPTOMS Decrease in vision, Photophobia, Decrease in depth perception
SIGNS Bilateral
Light color irides, Diffuse iris transillumination defects, Blonde fundus from the periphery to the posterior pole, Foveal hypoplasia
WORK-UP Pupils, EOMs (may present with a pendular nystagmus), Color vision, Full eye exam with dilation, Visual field, OCT of the macula, Fundus Autofluorescence, Fluorescein Angiography, Fundus photos, Infrared photos, Electrodiagnostic testing (VEP: Abnormal due to irregular decussation of nerve fibers at the chiasm / ERG / EOG), Dark adaptation, Amsler grid
Limit sun exposure as these patients have an increased risk of skin cancer
Recommend sunglasses/UV protection
Consider specialty contact lenses
Recommend genetic counseling for other family members
If the patient develops poor vision, refer to low vision
FOLLOW-UP Patient should be seen back in 6-12 months
Tyrosinase hair bulb test, Possible hematologic counseling
ETIOLOGY Occurs due to abnormal tyrosinase and a subsequent decrease in melanin
Oculocutaneous albinism is autosomal recessive and is associated with reduced amounts of melanin in each melanosome (involves the eyes, hair, and skin)
Ocular albinism is x-linked and is associated with a reduced number of melanosomes (involves only the eyes)
DIFFERENTIAL DX Retinitis pigmentosa, Choroideremia, Gyrate atrophy
NOTES Visual acuity can be anywhere from 20/40 to 20/400
Signs and symptoms of ocular albinism are less severe than oculocutaneous albinism
Patients with albinism can have very high myopic, hyperopic, and astigmatic refractive errors
True albinism presents with reduced vision and a nystagmus. Albinoidism presents with normal vision and no nystagmus
Female carriers of ocular albinism may have diffuse iris transillumination defects and a blonde fundus
Hermansky-Pudlak syndrome: Oculocutaneous albinism with associated platelet storage deficiency which leads to easy bleeding and bruising
Chediak-Higashi syndrome: Oculocutaneous albinism with increased risk of infection