DR. SUSHMITHA S

DR. B.N. KALPANA, DR. KAVITHA L. TUMBADI, DR.PRIYANKA PARIHAR

Abstract

PURPOSE: To report a rare case of pigmentary retinopathy with mitochondrial myopathy.

METHODS: A 16yr old male patient presented with h/o drooping of upper eyelids in BE a/w diplopia,h/o hearing loss & h/o stunted growth since 1½ yrs of age.There was no h/o similar complaints in family. VA,slit lamp,fundus evaluation,OCT of BE,Blood investigations,2D ECHO,MRI brain,ENT & Neurology evaluation were done.

RESULTS: VA of BE was 6/24. SLE revealed B/L severe ptosis and 3mm round, regular and sluggishly reactive pupils. Fundus examination revealed pale disc, attenuated blood vessels & salt and pepper retinopathy in the periphery. OCT showed generalised retinal thinning. EOM were restricted in all gazes. Investigations revealed increased P. lactate. MRI revealed s/o vitamin B12 deficiency/?demyelination .

CONCLUSION: Our case highlights the importance of anterior segment, posterior segment evaluation & investigations to be done in all confirmed & suspected cases of mitochondrial myopathies.