<unk>  is an inherited disease that is caused by a genetic mutation. This mutation impairs melanin synthesis; therefore, the number of melanocytes is preserved. The different types of<unk>  include, Oculocutaneous<unk> (OCA), Hermansky-Pudlak syndrome (HPS),Chediak-Higashi syndrome (CHS), and Ocular<unk>  (OA). Patients may present cutaneous and ocular findings. Cutaneous features include hypopigmented/ white hair, skin, and eyelashes. Ocular features include photophobia, decreased visual acuity, pink eyes, and hypopigmentation of iris, refractive errors, strabismus, nystagmus, foveal hypoplasia, and iris transillumination. The management of cutaneous and ocular manifestations of<unk>  include avoidance of prolonged sun exposure, periodic dermatologist evaluation for skin cancer, corrective lenses for refractive errors, tinted lenses/glasses for photophobia, bifocal or low-vision aids in older children, eye-patching in infants for reduction of strabismus, contact lenses or eye surgery in presence of nystagmus. Additionally, nitisinone can be used to improve pigmentation in OCA1.
Albinism
Xanthinuria
Lipiduria
Beeturia
Chalicosis
Cystinuria
Platinosis
Hepatic jaundice