title: Chediak-Higashi syndrome: ocular findings.
abstract: A case of Chediak-Higashi syndrome diagnosed by its characteristic ocular findings is described. The appearance of the optic disc and the contrast between total (or nearly total) lack of pigment in the pigment epithelium and the relatively unaffected choroidal pigmentation are believed to be observations of paramount importance in the differential diagnosis by ophthalmoscopic examination. Electrophysiological tests of our case showed abnormal responses and a further deterioration of the ERG and VEP on repeated examinations. Electron microscopic study of a conjunctival biopsy revealed the presence of pathognomonic giant intracytoplasmic lysosomal granules in stromal fibroblasts and, thus, can be used as an adjunct test in suspected cases of Chediak-Higashi syndrome.
mesh_terms: D002609:Chediak-Higashi Syndrome / Q000175:diagnosis*; D002829:Choroid; D003228:Conjunctiva / Q000473:pathology; D003937:Diagnosis, Differential; D004596:Electroretinography; D005071:Evoked Potentials; D005127:Eye Color; D005128:Eye Diseases / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007223:Infant; D007896:Leishmaniasis / Q000175:diagnosis; D008297:Male; D009759:Nystagmus, Pathologic / Q000175:diagnosis; D009898:Optic Disk; D010775:Photic Stimulation; D010857:Pigment Epithelium of Eye; D010859:Pigmentation Disorders / Q000175:diagnosis