Abstract

A 9 year old male child,first born to Non-Consanguinous couple came to OPD with complaints of defective vision in both eye which was predominant during dim illumination since first grade.In Head to toe examination,Premature greying of hair is noted.On ocular examination,Best correct visual acuity in BE) 6/24 and bilateral Nystagmus present.Heterochromia iridis is present otherwise Anterior segment is normal.Fundus examination shows features of Albinic fundus, Hypopigmented fundus with Prominence of retinal and choroidal vessels in the periphery.Patient was referred to paediatric department for Genetic testing and was Diagnosed with Hermansky-Pudlak Syndrome.His blood parameter were normal indicating no Bleeding disorder which is a common feature in this Syndrome.Patient was advised conservative management and routine follow up.