Title : Retinitis pigmentosa misdiagnosed as retrobulbar neuritis
Abstract:
Case: Female of 17 years of age ,resident of delhi belonging to lower middle socioeconomic status;chief complaints: diminution of distant vision since childhood and headache since last one year;history of present illness: complaints of diminision of vision since childhood especially at night which was incidious in onset and not accompanied by any other associated features,complaints of headache since last 1 year which was located in the orbitotemporal region,constant ,non radiating,not associated with aura,moderate in severity,no aggrevating factors ,releived on taking medications; negative history: no history of infection,fever,tuberculosis,hearing losss,trauma or physical abuse,no symptoms of redness,photophobia or flashes of light;birth history:full term nornal vaginal delivery,no history of nicu admissions,achieved developmental milestones on time and vaccination is complete as per the parents;general physical examination:conscious and well oriented,vitals stable and afebrile,no pallor, icterus, cyanosis,clubbing,pedal edema ;ocular examination:bcva of both eyes was 6/36 ,head posture and facial symmetry was maintained,eyelids were normal,extraocular movements were full and free in all directions,cornea and conjunctiva was clear ,no signs of xerosis,pupillary reaction was sluggish, anterior chamber examination was normal,fundus examination revealed tortous sclerosed vessels,bony spicules,multiple exudates, optic disc edema,cdr of 0.2, colour vision was defective and the patient could read only one slide oct :right eye-cystic spaces were present beneath fovea & cmt was increased to 430 micrometer left eye-cystic spaces were present beneath fovea,foveal contour not maintained, cmt 502 micrometer, visual fields : severely hampered in both eyes, contrast enhanced mri orbit and brain : normal results,blood investigations such as completehemogram,lft,kft and serum electrolytes were within normal. Limit.viral markers like hiv1,2 and hbsag were negative; differential diagnosis: retinitis pigmentosa,retrobulbar optic neuritis,csnb,pathological Myopia ,vitamin a deficiency were made, conclusion: provisional diagnosis of retinitis pigmentosa, the patient was misdiagnosed as retrobulbar optic neuritia at another government hospital at delhi due to fundus picture of optic disc edema and fuzzy disc.

