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Optic Disc Drusen & a Constellation of Other Features of Retinitis Pigmentosa: A Case Report

Received: 4 March 2021    Accepted: 24 March 2021    Published: 30 March 2021
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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.

Published in International Journal of Ophthalmology & Visual Science (Volume 6, Issue 1)
DOI 10.11648/j.ijovs.20210601.20
Page(s) 63-66
Creative Commons

This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.

Copyright

Copyright © The Author(s), 2024. Published by Science Publishing Group

Keywords

Optic Disc Drusen, Retinitis Pigmentosa, Glaucoma, Myopia, Atrophic Maculopathy, Epiretinal Membrane

References
[1] Muller H. Anatomische Beiträge zur Ophthalmologie. Albrecht von Graefes Arch Klin Ophthalmol. 1858; 4: 1–40.
[2] Chang MY, Pineles SL. Optic Disc Drusen in Children. Surv Ophthalmol. 2016 Nov-Dec; 61 (6): 745–758.
[3] Hamel C. Retinitis pigmentosa. Orphanet J Rare Dis 2006; 1: 40.
[4] Hartong D. T., Berson E. L. & Dryja T. P. Retinitis pigmentosa. Lancet 368, 1795–1809, doi: 10.1016/S0140-6736(06)69740-7 (2006).
[5] R C Pruett. Retinitis pigmentosa: clinical observations and correlations. Trans Am Ophthalmol Soc. 1983; 81: 693–735.
[6] Verhoeven, G. H. S. Buitendijk, J. R. Polling, M. A. Meester-Smoor, A. Hofman, R. D. Consortium, M. Kamermans, L. Ingeborgh van den Born, C. C. W. Klaver; Development of refractive errors - what can we learn from inherited retinal dystrophies? Am. J. Ophthalmol. 182 (2017): 81-89.
[7] Grover S, Edwards J. Macular Findings in Retinitis Pigmentosa By Spectral-Domain OCT (Spectralis) Investigative Ophthalmology & Visual Science March 2012, Vol. 53, 14. 5210.
[8] Serpen JY, Prasov L, Zein WM, Cukras CA, Cunningham D, Murphy EC, Turriff A, Brooks BP Huryn LA. Clinical Features of Optic Disc Drusen in an Ophthalmic Genetics Cohort. Journal of Ophthalmology, vol. 2020, Article ID 5082706; 1-8 2020. https://doi.org/10.1155/2020/5082706
[9] Shiono T, Noro M, Tamai M. Presumed drusen of optic nerve head in siblings with Usher syndrome Jpn J Ophthalmol. 1991; 35 (3): 300-5.
[10] Thurtell MJ, Biousse V, Bruce BB, Newman NJ. Optic nerve head drusen in black patients. J Neuroophthalmol. 2012 Mar; 32 (1): 13–16.
[11] Antcliff RJ, Spalton DJ Are optic disc drusen inherited? Ophthalmology 1999 106: 1278–1281.
[12] Mănoiu MR, Amri JA, Țicle A, Stan C. Case report: bilateral optic nerve head drusen and glaucoma. Rom J Ophthalmol. 2017 Oct-Dec; 61 (4): 310-314.
[13] Yan Y, Ludwig CA, Liao YJ. Multimodal Imaging Features of Optic Disc Drusen, Am J Ophthalmol (2021) ISSN 0002-9394; https://doi.org/10.1016/j.ajo.2020.12.023.
[14] Padhy SK, Behera UC. Optic disc drusen precipitating central retinal vein occlusion in young. BMJ Case Rep 2019 Jul 8; 12 (7).
[15] Castro-Rebollo M, Martin-Moro JG, Escobar IL. Choroidal neovascularisation associated with optic nerve head drusen: Case report and review of literature. Arch Soc Esp Oftalmol 2019 Mar; 94 (3): 149-152.
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    Yewande Olubunmi Babalola, Aderonke Mojisola Baiyeroju. (2021). Optic Disc Drusen & a Constellation of Other Features of Retinitis Pigmentosa: A Case Report. International Journal of Ophthalmology & Visual Science, 6(1), 63-66. https://doi.org/10.11648/j.ijovs.20210601.20

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    ACS Style

    Yewande Olubunmi Babalola; Aderonke Mojisola Baiyeroju. Optic Disc Drusen & a Constellation of Other Features of Retinitis Pigmentosa: A Case Report. Int. J. Ophthalmol. Vis. Sci. 2021, 6(1), 63-66. doi: 10.11648/j.ijovs.20210601.20

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    AMA Style

    Yewande Olubunmi Babalola, Aderonke Mojisola Baiyeroju. Optic Disc Drusen & a Constellation of Other Features of Retinitis Pigmentosa: A Case Report. Int J Ophthalmol Vis Sci. 2021;6(1):63-66. doi: 10.11648/j.ijovs.20210601.20

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  • @article{10.11648/j.ijovs.20210601.20,
      author = {Yewande Olubunmi Babalola and Aderonke Mojisola Baiyeroju},
      title = {Optic Disc Drusen & a Constellation of Other Features of Retinitis Pigmentosa: A Case Report},
      journal = {International Journal of Ophthalmology & Visual Science},
      volume = {6},
      number = {1},
      pages = {63-66},
      doi = {10.11648/j.ijovs.20210601.20},
      url = {https://doi.org/10.11648/j.ijovs.20210601.20},
      eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijovs.20210601.20},
      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.},
     year = {2021}
    }
    

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  • TY  - JOUR
    T1  - Optic Disc Drusen & a Constellation of Other Features of Retinitis Pigmentosa: A Case Report
    AU  - Yewande Olubunmi Babalola
    AU  - Aderonke Mojisola Baiyeroju
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    JF  - International Journal of Ophthalmology & Visual Science
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    PB  - Science Publishing Group
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    AB  - 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.
    VL  - 6
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Author Information
  • Department of Ophthalmology, University of Ibadan/ University College Hospital, Ibadan, Nigeria

  • Department of Ophthalmology, University of Ibadan/ University College Hospital, Ibadan, Nigeria

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