FP1542 : Pigmentary retinopathy,ataxia and hypogonadism: a rare case of Gordon Holmes syndrome

Dr.Anup Kumar Goswami, G08117

A 33yr old woman presented with diminuition of vision for five years.Examination showed BCVA 6/60 both eye with nystagmus and alternating XT of 18PD.Fundus had pigmentary retinopathy with beaten-bronze reflex.No history of night blindness but complained of difficulty in gait.General exam showed poor tandem walk.Patient referred to neurologist for opinion.MRI showed small ant.Pituitary with diffuse cerebellar atrophy.Records revealed hypoplastic uterus & ovary with primary amenorrhoea & decreased gonadotropin levels.Diagnosis of Gordon Holmes syndrome made & Vit D3,C & E with gait training started.Gordon Holmes syndrome is an idiopathic autosomal recessive neurodegenerative disorder characterized by ataxia, primary amenorrhea,hypo/hypergonadotropic hypogonadism, psychomotor retardation and pigmentary retinopathy.Conclusion:Paper reports a rare case to avoid wrong diagnosis requiring visual & neurorehabilitation.Systemic evaluation is must in presence of pigmentary retinopathy.