Abstract
Purpose
To evaluate the structural features of the macular region by enface OCT imaging in patients with clinical diagnosis of Stargardt disease, confirmed by the detection of ABCA4 mutations.
Methods
Thirty-two STGD patients were included in the study for a total of 64 eyes. All patients received a comprehensive ophthalmological examination, color fundus photography, fundus auto-fluorescence imaging and OCT. Five OCT scans were considered: ILM and RPE scans (both automatically obtained from the instrument), above-RPE slab, photoreceptor slab and sub-RPE slab (these last three manually obtained).
Results
ILM scans showed evident radial folds on the retinal surface in 8/64 eyes (12.5 %). In 6 of the 7 patients, these vitreo–retinal interface abnormalities were unilateral. The photoreceptor slab showed some macular alterations ranging from dis-homogeneous, hypo-reflective abnormalities (7/64 eyes, 11 %) to a homogeneous, well-defined, roundish, hypo-reflective area (17/64 eyes, 27 %) in all the eyes. The sub-RPE slab showed a centrally evident, hyper-reflective abnormality in 58/64 eyes (90.6 %). Superimposing the sub-RPE slab over the images corresponding to the photoreceptor slab, the area of the photoreceptor atrophy sharply exceeded that of the RPE atrophy (44/46 eyes, 96 %).
Conclusion
Enface OCT proved to be a clinically useful tool for the management of STGD patients, illustrating in vivo the structural abnormalities of the different retinal layers.
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References
Walia S, Fishman GA, Kapur R (2009) Flecked-retina syndromes. Ophthalmic Genet 30(2):69–75
Sodi A, Bini A, Passerini I, Forconi S, Menchini U, Torricelli F (2010) Different patterns of fundus autofluorescence related to ABCA4 gene mutations in Stargardt disease. Ophthalmic Surg Lasers Imaging 41(1):48–53
Testa F, Rossi S, Sodi A et al. (2012) Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy. Invest Ophthalmol Vis Sci. 3; 53(8): 4409–15.
Lois N, Holder GE, Bunce C, Fitzke FW, Bird AC (2001) Phenotypic subtypes of Stargardt macular dystrophy-fundus flavimaculatus. Arch Ophthalmol 119(3):359–69
Fujinami K, Lois N, Davidson AE, Mackay DS, Hogg CR, Stone EM, Tsunoda K, Tsubota K, Bunce C, Robson AG, Moore AT, Webster AR, Holder GE, Michaelides M (2013) A longitudinal study of stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations. Am J Ophthalmol 155(6):1075–1088.e13
Allikmets et al (1997) A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet 15(3):236–46
Passerini I, Sodi A, Giambene B et al (2010) Novel mutations in of the ABCR gene in Italian patients with Stargardt disease. Eye (Lond) 24(1):158–64
Cideciyan AV, Aleman TS, Swider M et al (2004) Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence. Hum Mol Genet 13(5):525–34
Radu RA, Yuan Q, Hu J et al (2008) Accelerated accumulation of lipofuscin pigments in the RPE of a mouse model for ABCA4-mediated retinal dystrophies following Vitamin A supplementation. Invest Ophthalmol Vis Sci 49(9):3821–9
Han Z, Conley SM, Naash MI (2014) Gene therapy for Stargardt disease associated with ABCA4 gene. Adv Exp Med Biol 801:719–24
Auricchio A, Trapani I, Allikmets R (2015) Gene Therapy of ABCA4-Associated Diseases. Cold Spring Harb Perspect Med 8:5(5)
Van Velthoven ME, de Vos K, Verbraak FD, Pool CW, de Smet MD (2005) Overlay of conventional angiographic and en-face OCT images enhances their interpretation. BMC Ophthalmol 5:12
Van Velthoven ME, Verbraak FD, Yannuzzi LA, Rosen RB, Podoleanu AG, de Smet MD (2006) Imaging the retina by en face optical coherence tomography. Retina 26(2):129–36
Forte R, Pascotto F, de Crecchio G (2007) Visualization of vitreomacular tractions with en face optical coherence tomography. Eye (Lond) 21(11):1391–4
Forte R, Cennamo G, Pascotto F, de Crecchio G (2008) En face optical coherence tomography of the posterior pole in high myopia. Am J Ophthalmol 145(2):281–288
Kameda T, Tsujikawa A, Otani A, Sasahara M, Gotoh N, Tamura H, Yoshimura N (2007) Polypoidal choroidal vasculopathy examined with en face optical coherence tomography. Clin Experiment Ophthalmol 35(7):596–601
Rispoli M, Le Rouic JF, Lesnoni G, Colecchio L, Catalano S, Lumbroso B (2012) Retinal surface en face optical coherence tomography: a new imaging approach in epiretinal membrane surgery. Retina 32(10):2070–6
Adhi M, Liu JJ, Qavi AH, Grulkowski I, Fujimoto JG, Duker JS (2013) Enhanced visualization of the choroido-scleral interface using swept-source OCT. Ophthalmic Surg Lasers Imaging Retina 44(6 Suppl):S40–2
Nunes RP, Gregori G, Yehoshua Z et al (2013) Predicting the progression of geographic atrophy in age-related macular degeneration with SD-OCT en face imaging of the outer retina. Ophthalmic Surg Lasers Imaging Retina 44(4):344–59
Yehoshua Z, Garcia Filho CA, Penha FM et al (2013) Comparison of geographic atrophy measurements from the OCT fundus image and the sub-RPE slab image. Ophthalmic Surg Lasers Imaging Retina 44(2):127–32
Mazzini C, Sodi A, Menchini U. (2013) En face optical coherence tomography in retinal dystrophies. In Bruno Lumbroso (ed), David Huang (ed), Andre Romano (ed) Clinical En Face OCT Atlas First edition, Jaypee brother medical publishers. Printed at: Ajanta Offset & Packagings Ltd New Delhi.
Spaide RF, Curcio CA (2011) Anatomical correlates to the bands seen in the outer retina by optical coherence tomography: literature review and model. Retina 31(8):1609–19
Yehoshua Z, Garcia Filho CA, Penha FM, Gregori G, Stetson PF, Feuer WJ, Rosenfeld PJ (2013) Comparison of geographic atrophy measurements from the OCT fundus image and the sub-RPE slab image. Ophthalmic Surg Lasers Imaging Retina 44(2):127–32
Sodi A, Bini A, Passerini I, Menchini U, Torricelli F (2006) Occurrence of full-thickness macular hole complicating Stargardt disease with ABCR mutation. Eur J Ophthalmol 16(2):335–8
Jin ZB, Gan DK, Xu GZ, Nao-I N (2008) Macular hole formation in patients with retinitis pigmentosa and prognosis of pars plana vitrectomy. Retina 28(4):610–4
Hagiwara A, Yamamoto S, Ogata K, Sugawara T, Hiramatsu A, Shibata M, Mitamura Y (2011) Macular abnormalities in patients with retinitis pigmentosa: prevalence on OCT examination and outcomes of vitreoretinal surgery. Acta Ophthalmol 89(2):e122–5
Testa F, Rossi S, Colucci R et al (2014) Macular abnormalities in Italian patients with retinitis pigmentosa. Br J Ophthalmol 98(7):946–50
Yoshida N, Ikeda Y, Notomi S et al (2013) Laboratory evidence of sustained chronic inflammatory reaction in retinitis pigmentosa. Ophthalmology 120(1):e 5–e 12
Murakami Y, Yoshida N, Ikeda Y et al (2015) Relationship between aqueous flare and visual function in retinitis pigmentosa. Am J Ophthalmol 159(5):958.e1–963.e1
Gomes NL, Greenstein VC, Carlson JN et al (2009) A comparison of fundus autofluorescence and retinal structure in patients with Stargardt disease. Invest Ophthalmol Vis Sci 50(8):3953–9
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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
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Sodi, A., Mucciolo, D.P., Cipollini, F. et al. En face OCT in Stargardt disease. Graefes Arch Clin Exp Ophthalmol 254, 1669–1679 (2016). https://doi.org/10.1007/s00417-015-3254-1
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DOI: https://doi.org/10.1007/s00417-015-3254-1