Chediak-higashi syndrome (anomalous leukocytic inclusions with constitutional stigmata)    234

General: Occurs in albinoid siblings born of consanguineous parents; tyrosinase- 646e45g positive type of oculocutaneous albinism associated with a fetal reticuloendothelial incompetence.

Ocular: Decreased iris pigmentation; photophobia; narrowness and decreased number of vessels in retina; decreased pigmentation of choroid elevated disk; papilledema; infiltration of immature leukocytes in the uvea, retina, and optic nerve; nystagmus; ocular motor palsies; optic disk edema; oculocutaneous albinism.

Clinical: Anemia; neutropenia; thrombocytopenia; recurrent infections; hepatosplenomegaly; lymphadenopathy; oculocutaneous albinism; hyperpigmentation of sun-exposed areas.

Benezra D, et al. Chediak-Higashi syndrome: ocular findings. J Pediatr Ophthalmol Strabismus 1980; 17:68-74.

Chediak M. Nouvelle Anomalie Leucocytaire de Caractere Constitutionale et Familial. Rev Hemat 1952; 7:362.

Collins JF. Handbook of Clinical Ophthalmology. New York: Masson, 1982.

Fong DS, Pruett RC. Systemic associations with myopia. In: Albert DM, Jakobiec FA, eds. Principles and Practice of Ophthalmology, vol. V. Philadelphia: WB Saunders, 1994:3146.

Valenzuela R, Morningstar WA. The ocular pigmentary disturbance of human Chediak-Higashi syndrome. A ative light and electron-microscopic study and review of the literature. Am J Clin Pathol 1981; 75:591-596.