Abstract
<i>Aim: </i>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. <i>Method: </i>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. <i>Results:</i> 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. <i>Conclusion: </i>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.
Highlights
(3) The association between optic disc drusen and retinitis pi gmentosa (RP) has long been established as the very first diagnosis of optic disc drusen was made in a patient with Retinitis pigmentosa (RP). (1, 2) This case report highlights the various ocular associations of retinitis pigmentosa co-existing in our index patient especially the presence of optic disc drusen
Retinitis pigmentosa (RP) is the most common inherited retinal dystrophy affecting about 1:3000 to 4000 individuals worldwide. [3, 4] Various ocular associations have been documented with RP which range from refractive errors, cataract, glaucoma, posterior vitreous detachment and optic nerve drusen to mention a few. [2, 5, 6]
Our index patient had a constellation of features including optic disc drusen, glaucoma, posterior vitreous detachment, early posterior subcapsular cataracts and myopia coexisting with retinitis pigmentosa; epiretinal membrane and marked foveal atrophy typified by foveal thinning with loss of the ellipsoid zone was present on optical coherence tomography of both maculae
Summary
Optic disc drusen (ODD) are calcified deposits located both intracellularly and extracellularly around the optic nerve head which was first described in 1858. [1] These calcified deposits occur in association with various ocular and systemic disorders ranging from acquired myelinated nerve fibres, idiopathic parafoveal telangiectasia to glaucoma, Down syndrome, Sturge Weber syndrome and schizophrenia amongst others. [2]Retinitis pigmentosa (RP) is the commonest inherited retinal dystrophy affecting the photoreceptors, the rods initially the cones subsequently leading to nyctalopia and visual field loss. [3] The classical triad of clinical features in RP are bone-spicule pigmentation, waxy pallor of the disc and attenuated vessels. (3) The association between optic disc drusen and retinitis pi gmentosa (RP) has long been established as the very first diagnosis of optic disc drusen was made in a patient with RP. (1, 2) This case report highlights the various ocular associations of retinitis pigmentosa co-existing in our index patient especially the presence of optic disc drusen. (1, 2) This case report highlights the various ocular associations of retinitis pigmentosa co-existing in our index patient especially the presence of optic disc drusen. To the best of our knowledge this is the first reported case of optic disc drusen in a Nigerian. Other Features of Retinitis Pigmentosa: A Case Report history of ocular trauma, flashes of light nor floaters. There was a positive history of bumping into objects especially at night He had been wearing spectacles for the past 5 years and the present prescription was two and a half years old. There was no history of redness nor loss of peripheral field vision He was not a known hypertensive, diabetic, asthmatic nor peptic ulcer disease patient and his genotype was AA. History was not significant for blinding eye disease nor night blindness
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