Optic disc drusen and a constellation of other features of retinitis pigmentosa: a case report

Abstract

Aim: We describe a case of optic disc drusen in retinitis pigmentosa with a myriad of other ocular associations of retinitis pigmentosa coexisting in our patient. To the best of our knowledge, this is the first case reported in a Nigerian. Method: This is a case report of a 16 year old who presented top our eye clinic with a 2 year history of poor night vision with an associated history of difficulty seeing far since childhood. The best corrected visual acuity was 6/18 and 6/12 respectively in the right and left eye. Slit lamp biomicroscopy revealed bilateral grade 1 posterior subcapsular cataracts. Binocular indirect ophthalmoscopy of both eyes revealed vitreous opacities, pale, cupped discs with nasalization of the vessels and yellowish, crystalline deposits at the inferior and superior disc margins. The retina was pale with attenuated vessels, bone spicule pigmentation, atrophic maculopathy and epiretinal membranes bilaterally. Results: An assessment of optic disc drusen, glaucoma, atrophic maculopathy with epiretinal membrane in retinitis pigmentosa was made. The diagnosis of optic disc drusen was confirmed by characteristic ocular B-scan findings. He was commenced on guttae betaxolol BD in both eyes and counselled on the nature of the eye pathology. Conclusion: Optic disc drusen co-exists with retinitis pigmentosa. Though uncommon, optic disc drusen may occur in Africans as seen in our patient. Other ocular associations including myopia, glaucoma and macula lesions like epiretinal membrane and atrophic maculopathy may also be present. The central visual field changes in a patient with retinitis pigmentosa, optic disc drusen and glaucoma may be attributable to all three ocular entities and not just the glaucoma. Prompt diagnosis, follow –up and adequate patient counselling is essential in the management of these patients.