DIAGNOSTIC APPROACHES FOR MACULAR DYSTROPHY BY USING OCT AND VEP : A CASE SERIES

Main Article Content

Rahajeng Anugrahing Saldianovitta Nadia Artha Dewi

Abstract

Introduction: Macular dystrophies (MDs) consist of a heterogeneous group of disorders that are characterized by bilateral symmetrical central visual loss. Clinical manifestation including atrophy in macula. This cases series provides clinical manifestation and characteristics in ancillary testing for better approach to macular disease


Case report: Case 1 is 13-year-old girl with decrease visual acuity, uncorrected visual acuity (UCVA) was 2/60 on both eyes. The ophthalmologic examination showed an area of atrophy at macula accompanied with yellowish flecks on both eyes. Optical coherence tomography (OCT) shows thinning in all areas of macula and loss of outer nuclear layer (ONL) and photoreceptor. From VEP, there were low amplitude N75, P100, and N145 waves without any latency. Case 2 is 39-year-old woman with decrease of visual acuity, UCVA was 6/60 on both eyes, accompanied with partial colour blindness and red-green deficiencies. From ophthalmology examination showed large atrophy area at macula. OCT examination shows thinning in most of macula area and decrease of ONL thickness and photoreceptor. VEP showed normal wave without any latency.


Discussion: There were a gradual central vision loss, at a more advanced stage, color blindness can occur due to photoreceptor damage in the macular area. From the posterior segment there was a yellowish spot on the macula which suggested lipofuscin deposition on the retinal pigment epithelium (RPE). From OCT, there ware loss of ONL and VEP showed low amplitude or normal waves. This findings suggested macular dystrophy due to Stargardt disease.


Conclusion: OCT and VEP can be used to detect anatomical and physiological abnormalities that can aid in the diagnosis of macular dystrophy in the case of incomplete ancillary testing tools.

Keywords

Macular dystrophy, Macular thinning, Genetic, Stargardt Disease, OCT, VEP

Article Details

How to Cite
SALDIANOVITTA, Rahajeng Anugrahing; DEWI, Nadia Artha. DIAGNOSTIC APPROACHES FOR MACULAR DYSTROPHY BY USING OCT AND VEP : A CASE SERIES. International Journal of Retina, [S.l.], v. 7, n. 2, p. 148, sep. 2024. ISSN 2614-8536. Available at: <https://www.ijretina.com/index.php/ijretina/article/view/259>. Date accessed: 08 dec. 2024. doi: https://doi.org/10.35479/ijretina.2024.vol007.iss002.259.
Section
Case Report

References

Rahman N, Georgiou M, Khan KN, Michaelides M. Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options. British Journal of Ophthalmology. 2019 Nov 8.
2. Liutkevičienė R, Lesauskaitė V, Ašmonienė V, Gelžinis A, Žaliūnienė D, Jašinskas V. Inherited macular dystrophies and differential diagnostics. Medicina. 2012 Sep;48(9):72.
3. Fujinami K, Zernant J, Chana RK, et al. Clinical and molecular characteristics of childhood-onset Stargardt disease. Ophthalmology 2015;122:326–34.
4. Tanna P, Georgiou M, Aboshiha J, et al. Cross-Sectional and longitudinal assessment of retinal sensitivity in patients with childhood-onset Stargardt disease. Transl Vis Sci Technol 2018;7:10
5. Lambertus S, van Huet RA, Bax NM, et al. Early-Onset Stargardt disease: phenotypic and genotypic characteristics. Ophthalmology 2015;122:335–44.
6. Arrigo A, Grazioli A, Romano F, Aragona E, Marchese A, Bordato A, Di Nunzio C, Sperti A, Bandello F, Parodi MB. Multimodal evaluation of central and peripheral alterations in Stargardt disease: a pilot study. British Journal of Ophthalmology. 2020 Sep 1;104(9):1234-8.
7. Chen X, Shi F, Chen H. Retinal optical coherence tomography image analysis. Springer, 2019.
8. Querques G, Souied EH, editors. Macular dystrophies. Springer International Publishing; 2016 Feb 15.
9. Duker JS, Waheed NK, Goldman D. Handbook of Retinal OCT: Optical Coherence Tomography E-Book. Elsevier Health Sciences; 2013 Dec 12.
10. Khan KN, Kasilian M, Mahroo OAR, et al. Early patterns of macular degeneration in ABCA4 -associated retinopathy. Ophthalmology 2018;125:735–46.
11. Jauregui R, Cho A, Lee W, Zernant J, Allikmets R, Sparrow JR, Tsang SH. Progressive choriocapillaris impairment in ABCA4 maculopathy is secondary to retinal pigment epithelium atrophy. Investigative ophthalmology & visual science. 2020 Apr 9;61(4):13-.
12. Nakamura N, Tsunoda K, Mizuno Y, Usui T, Hatase T, Ueno S, Kuniyoshi K, Hayashi T, Katagiri S, Kondo M, Kameya S. Clinical stages of occult macular dystrophy based on optical coherence tomographic findings. Investigative ophthalmology & visual science. 2019 Nov 1;60(14):4691-700.
13. Melillo P, Testa F, Rossi S, Di Iorio V, Orrico A, Auricchio A, Simonelli F. En face spectral-domain optical coherence tomography for the monitoring of lesion area progression in Stargardt disease. Investigative ophthalmology & visual science. 2016 Jul 1;57(9):OCT247-52.
14. Joukal M. Anatomy of the human visual pathway. InHomonymous visual field defects 2017 (pp. 1-16). Springer, Cham.
15. Hajizadeh F, Atlas of Ocular Optical Coherence Tomography. Springer International Publishing; 2016 Feb 15.
16. Song H, Rossi EA, Latchney L, et al. Cone and rod loss in Stargardt disease revealed by adaptive optics scanning light ophthalmoscopy. JAMA Ophthalmol 2015;133:1198–203.