A Rare Case of Central Areolar Choroidal Dystrophy
By:
References
- 1. Henderson RH. Inherited retinal dystrophies, Paediatrics and child health. 2020, 30(1):19-27.
- 2. Fishman GA, Birch DG, Holder GE et al. Electrophysiologic testing in disorders of the retina, optic nerve and visual pathway. 2nd ed. The Foundation of The American Academy of Ophthalmology, Ophthalmology monographs. 2001, 221-240.
- 3. Bowling B. Kanski’s Clinical ophthalmology A systematic approach 8 ed. Elsevier Limited, 2016, 640-677.
- 4. AAO Retina and vitreous Basic and clinical science course 2017-2018. 2017, 180-215.
- 5. Smailhodzic D, Fleckenstein M, Theelen T et al. Central Areolar Choroidal Dystrophy (CACD) and Age-Related Macular Degeneration (AMD): Differentiating Characteristics in Multi-modal Imaging. Invest Ophthalmol Visual Sci, 2011, 52:8908-8918.
- 6. Gamundi MJ, Hernan I, Muntanyola M. High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population. Mol Vis. 2007,13:1031-1037.
- 7. Aleman TS, Han G, Serrano LW et al. Natural history of the central structural abnormalities in choroideremia: a prospective cross-sectional study, Ophthalmology. 2017, 124:359–373.
- 8. Passarinho MP, Tripathy K, Baptista ML et al. AAO, EyeWiki, 2022, June 6 https://eyewiki.aao.org/CentralBAreolarBChoroidalBDystrophy
- 9. Boon CJ, Klevering BJ, Cremers FP. Central areolar choroidal dystrophy. Ophthalmology. 2009, 116:771-782.
- 10. Ponjavic V, Andreasson S, Ehinger B. Full-field electroreti-nograms in patients with central areolar choroidal dystrophy. Acta 0phthalmologica. 1994, 72:537-544.
- 11. Gundogan FC, Dino UA, Erdem U et al. Multifocal electro-retinogram and central visual field testing in central areolar choroidal dystrophy. Eur J Ophthalmol. 2010, 20(5): 919-924.
- 12. Duncan JL, Pierce EA, Laster AM et al. Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps, Transl Vis Sci Technol. 2018, 7(4): 6. doi: 10.1167/tvst.7.4.6.eCollection 2018 Jul.
- 13. Yanagihashi S, Nakazawa M, Kurotaki J et al. Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/RDS gene. Arch Ophthalmol. 2003,121:1458-1461.
- 14. Klevering BJ, van Driel M, van Hogerwou AJ et al. Central areolar choroidal dystrophy associated with dominantly inherited drusen. Br J Ophthalmol. 2002 Jan;86(1):91-6..
- 15. Davis JL. The Blunt End: Surgical Challenges of Gene Therapy for Inherited Retinal Diseases, Am J Ophthalmol, Dec;196:xxv-xxix. doi: 10.1016/j.ajo.2018.08.038. Epub 2018 Sep 5.
- 16. Fleckenstein M, Schmitz-Valckenberg S, Martens C. Fundus autofluorescence and spectral-domain optical coherence tomography characteristics in a rapidly progressing form of geographic atrophy. Invest Ophthalmol Vis Sci. 2011, 52:3761-3766.
- 17. Smailhodzic D, Fleckenstein M, Hoyng C et al. High-Resolution Spectral-Domain Oct (sd-oct) Imaging in Central Areolar Choroidal Dystrophy (cacd), Invest Ophthalmol Vis Sci. 2009, 50:3293.
- 18. Praidou A, Hagan R, Newman W et al. Early diagnosis of Stargardt disease with multifocal electroretinogram in children, Int. Ophthalmol. 2014, 34(3):613-621.
- 19. Koenekoop RK, Lopez I, den Hollander A et al. Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions, Clin Exp Ophthalmol. 2007, 35(5):473-485.
- 20. Rakoczy EP. Gene- and cell-based treatment strategies for the eye. Essentials in Ophthalmology. Springer, 2015, 2-6.
Language: English
Page range: 58 - 62
Submitted on: Jul 11, 2022
Accepted on: Sep 15, 2022
Published on: Feb 10, 2023
Published by: Sofia Medical University
In partnership with: Paradigm Publishing Services
Publication frequency: 4 times per year
Keywords:
Related subjects:
© 2023 E. Mermeklieva, P. Vasileva, published by Sofia Medical University
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.