FP279

Cataract in a child with Griscelli syndrome type 1 - A rare case report

Purpose: To report a case of 9- year- old female child born to consanguineously married couple was brought with complaints of delayed milestones, difficulty in identifying and reaching out to objects. H/O presence of grey hair over scalp and body since birth with similar history of grey hair being present in father since birth.
Methods: child had presence of grey hair over scalp, eyebrows and lashes. Dyschromia over face, hyperpigmentation of lips, hyper flexibility of joints, and hypotony of lower limbs. Ocular examination: Alternating esotropia with normal extraocular movements, visual acuity OU was perception of light. Both eyes had total white cataract with rest of the anterior segment examination being normal. 
Results: Hair shaft microscopy showed typical distribution of melanin granules suggestive of Griscelli syndrome. Genetic testing reports awaited.
Conclusion: Cataract in a child with Type 1 Griscelli syndrome, is a first case to be reported in the literature.