Retinitis pigmentosa (RP) is a progressive inherited retinal disease characterized by nyctalopia, visual field constriction, and reduced full-field electroretinograms. The progressive loss of photoreceptors leads to vision loss at the end stage of RP. The prevalence of RP is approximately 1/4,000. Since it is one of the major causes of visual impairment worldwide, morphological and functional assessments are useful for estimating the retinal structure and function in RP. Optical coherence tomography (OCT) is a well-established method of examining retinal structure in situ, and the obtained images by OCT help to analyze morphological abnormalities. Changes revealed by OCT have provided insights into the pathology of RP as well as for predicting the prognosis of RP. In this review, we present the typical morphological changes in RP and their relationships with visual function in eyes with RP.

Keywords:
Retinitis pigmentosa, Optical coherence tomography, Retinal structure, Visual function
1.
Hartong DT, Berson EL, Dryja TP: Retinitis pigmentosa. Lancet 2006;368:1795-1809.
2.
Fariss RN, Li ZY, Milam AH: Abnormalities in rod photoreceptors, amacrine cells, and horizontal cells in human retinas with retinitis pigmentosa. Am J Ophthalmol 2000;129:215-223.
3.
Milam AH, Li ZY, Fariss RN: Histopathology of the human retina in retinitis pigmentosa. Prog Retin Eye Res 1998;17:175-205.
4.
Szamier RB, Berson EL, Klein R, Meyers S: Sex-linked retinitis pigmentosa: ultrastructure of photoreceptors and pigment epithelium. Invest Ophthalmol Vis Sci 1979;18:145-160.
5.
Hood DC, Lazow MA, Locke KG, Greenstein VC, Birch DG: The transition zone between healthy and diseased retina in patients with retinitis pigmentosa. Invest Ophthalmol Vis Sci 2011;52:101-108.
6.
Fischer MD, Fleischhauer JC, Gillies MC, Sutter FK, Helbig H, Barthelmes D: A new method to monitor visual field defects caused by photoreceptor degeneration by quantitative optical coherence tomography. Invest Ophthalmol Vis Sci 2008;49:3617-3621.
7.
Hee MR, Puliafito CA, Duker JS, Reichel E, Coker JG, Wilkins JR, Schuman JS, Swanson EA, Fujimoto JG: Topography of diabetic macular edema with optical coherence tomography. Ophthalmology 1998;105:360-370.
8.
Hood DC, Ramachandran R, Holopigian K, Lazow M, Birch DG, Greenstein VC: Method for deriving visual field boundaries from OCT scans of patients with retinitis pigmentosa. Biomed Opt Express 2011;2:1106-1114.
9.
Hee MR, Puliafito CA, Wong C, Duker JS, Reichel E, Schuman JS, Swanson EA, Fujimoto JG: Optical coherence tomography of macular holes. Ophthalmology 1995;102:748-756.
10.
Sandberg MA, Brockhurst RJ, Gaudio AR, Berson EL: The association between visual acuity and central retinal thickness in retinitis pigmentosa. Invest Ophthalmol Vis Sci 2005;46:3349-3354.
11.
Matsuo T, Morimoto N: Visual acuity and perimacular retinal layers detected by optical coherence tomography in patients with retinitis pigmentosa. Br J Ophthalmol 2007;91:888-890.
12.
Yokochi M, Li D, Horiguchi M, Kishi S: Inverse pattern of photoreceptor abnormalities in retinitis pigmentosa and cone-rod dystrophy. Doc Ophthalmol 2012;125:211-218.
13.
Curcio CA, Sloan KR, Kalina RE, Hendrickson AE: Human photoreceptor topography. J Comp Neurol 1990;292:497-523.
14.
Staurenghi G, Sadda S, Chakravarthy U, Spaide RF: Proposed lexicon for anatomic landmarks in normal posterior segment spectral-domain optical coherence tomography: the IN·OCT consensus. Ophthalmology 2014;121:1572-1578.
15.
Spaide RF, Curcio CA: Anatomical correlates to the bands seen in the outer retina by optical coherence tomography: literature review and model. Retina 2011;31:1609-1619.
16.
Berson EL, Adamian M: Ultrastructural findings in an autopsy eye from a patient with Usher's syndrome type II. Am J Ophthalmol 1992;114:748-757.
17.
Milam AH, Li ZY, Cideciyan AV, Jacobson SG: Clinicopathologic effects of the Q64ter rhodopsin mutation in retinitis pigmentosa. Invest Ophthalmol Vis Sci 1996;37:753-765.
18.
Tsunoda K, Fujinami K, Miyake Y: Selective abnormality of cone outer segment tip line in acute zonal occult outer retinopathy as observed by spectral-domain optical coherence tomography. Arch Ophthalmol 2011;129:1099-1101.
19.
Wakabayashi T, Sawa M, Gomi F, Tsujikawa M: Correlation of fundus autofluorescence with photoreceptor morphology and functional changes in eyes with retinitis pigmentosa. Acta Ophthalmol 2010;88:e177-e183.
20.
Tamaki M, Matsuo T: Optical coherence tomographic parameters as objective signs for visual acuity in patients with retinitis pigmentosa, future candidates for retinal prostheses. J Artif Organs 2011;14:140-150.
21.
Ooka E, Mitamura Y, Baba T, Kitahashi M, Oshitari T, Yamamoto S: Foveal microstructure on spectral-domain optical coherence tomographic images and visual function after macular hole surgery. Am J Ophthalmol 2011;152:283-290.
22.
Eriksson U, Alm A: Macular thickness decreases with age in normal eyes: a study on the macular thickness map protocol in the Stratus OCT. Br J Ophthalmol 2009;93:1448-1452.
23.
Aleman TS, Cideciyan AV, Sumaroka, Schwartz SB, Roman AJ, Windsor EA, Steinberg JD, Branham K, Othman M, Swaroop A, Jacobson SG: Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations. Invest Ophthalmol Vis Sci 2007;48:4759-4765.
24.
Apushkin MA, Fishman GA, Alexander KR, Shahidi M: Retinal thickness and visual thresholds measured in patients with retinitis pigmentosa. Retina 2007;27:349-357.
25.
Rangaswamy NV, Patel HM, Locke KG, Hood DC, Birch DG: A comparison of visual field sensitivity to photoreceptor thickness in retinitis pigmentosa. Invest Ophthalmol Vis Sci 2010;51:4213-4219.
26.
Yoon CK, Yu HG: The structure-function relationship between macular morphology and visual function analyzed by optical coherence tomography in retinitis pigmentosa. J Ophthalmol 2013;2013:821460.
27.
Sugita T, Kondo M, Piao CH, Ito Y, Terasaki H: Correlation between macular volume and focal macular electroretinogram in patients with retinitis pigmentosa. Invest Ophthalmol Vis Sci 2008;49:3551-3558.
28.
Witkin AJ, Ko TH, Fujimoto JG, Chan A, Drexler W, Schuman JS, Reichel E, Duker JS: Ultra-high resolution optical coherence tomography assessment of photoreceptors in retinitis pigmentosa and related diseases. Am J Ophthalmol 2006;142:945-952.
29.
Aizawa S, Mitamura Y, Baba T, Hagiwara A, Ogata K, Yamamoto S: Correlation between visual function and photoreceptor inner/outer segment junction in patients with retinitis pigmentosa. Eye (Lond) 2009;23:304-308.
30.
Sano M, Shimoda Y, Hashimoto H: Restored photoreceptor outer segment and visual recovery after macular hole closure. Am J Ophthalmol 2009;147:313-318.
31.
Itoh Y, Inoue M, Rii T, Hiraoka T, Hirakata A: Correlation between length of foveal cone outer segment tips line defect and visual acuity after macular hole closure. Ophthalmology 2012;119:1438-1446.
32.
Ojima Y, Hangai M, Sasahara M, Gotoh N, Inoue R, Yasuno Y, Makita S, Yatagai T, Tsujikawa A, Yoshimura N: Three-dimensional imaging of the foveal photoreceptor layer in central serous chorioretinopathy using high-speed optical coherence tomography. Ophthalmology 2007;114:2197-2207.
33.
Wolsley CJ, Silvestri G, O'Neill J, Saunders KJ, Anderson RS: The association between multifocal electroretinograms and OCT retinal thickness in retinitis pigmentosa patients with good visual acuity. Eye (Lond) 2009;23:1524-1531.
34.
Mitamura Y, Mitamura-Aizawa S, Katome T, Naito T, Hagiwara A, Kumagai K, Yamamoto S: Photoreceptor impairment and restoration on optical coherence tomographic image. J Ophthalmol 2013;2013:518170.
35.
John SK, Smith JE, Aguirre GD, Milam AH: Loss of cone molecular markers in rhodopsin-mutant human retinas with retinitis pigmentosa. Mol Vis 2000;6:204-215.
36.
Hood DC, Lin CE, Lazow MA, Locke KG, Zhang X, Birch DG: Thickness of receptor and post-receptor retinal layers in patients with retinitis pigmentosa measured with frequency-domain optical coherence tomography. Invest Ophthalmol Vis Sci 2009;50:2328-2336.
37.
Wen Y, Klein M, Hood DC, Birch DG: Relationships among multifocal electroretinogram amplitude, visual field sensitivity, and SD-OCT receptor layer thicknesses in patients with retinitis pigmentosa. Invest Ophthalmol Vis Sci 2012;53:833-840.
38.
Santos A, Humayun MS, de Juan E Jr, Greenburg RJ, Marsh MJ, Klock IB, Milam AH: Preservation of the inner retina in retinitis pigmentosa. A morphometric analysis. Arch Ophthalmol 1997;115:511-515.
39.
Humayun MS, Prince M, de Juan E Jr, Barron Y, Moskowitz M, Klock IB, Milam AH: Morphometric analysis of the extramacular retina from postmortem eyes with retinitis pigmentosa. Invest Ophthalmol Vis Sci 1999;40:143-148.
40.
Vámos R, Tátrai E, Németh J, Holder GE, DeBuc DC, Somfai GM: The structure and function of the macula in patients with advanced retinitis pigmentosa. Invest Ophthalmol Vis Sci 2011;52:8425-8432.
41.
Curcio CA, Messinger JD, Sloan KR, Mitra A, McGwin G, Spaide RF: Human chorioretinal layer thicknesses measured in macula-wide, high-resolution histologic sections. Invest Ophthalmol Vis Sci 2011;52:3943-3954.
42.
Beltran WA, Hammond P, Acland GM, Aguirre GD: A frameshift mutation in RPGR exon ORF15 causes photoreceptor degeneration and inner retina remodeling in a model of X-linked retinitis pigmentosa. Invest Ophthalmol Vis Sci 2006;47:1669-1681.
43.
Naash ML, Peachey NS, Li ZY, Gryczan CC, Goto Y, Blanks J, Milam AH, Ripps H: Light-induced acceleration of photoreceptor degeneration in transgenic mice expressing mutant rhodopsin. Invest Ophthalmol Vis Sci 1996;37:775-782.
44.
Walia S, Fishman GA: Retinal nerve fiber layer analysis in RP patients using Fourier-domain OCT. Invest Ophthalmol Vis Sci 2008;49:3525-3528.
45.
Kim JH, Lee HS, Kim NR, Seong GJ, Kim CY: Relationship between visual acuity and retinal structures measured by spectral domain optical coherence tomography in patients with open-angle glaucoma. Invest Ophthalmol Vis Sci 2014;55:4801-4811.
46.
Rebolleda G, Sanchez-Sanchez C, Gonzalez-Lopez JJ, Contreras I, Muñoz-Negrete FJ: Papillomacular bundle and inner retinal thicknesses correlate with visual acuity in nonarteritic anterior ischemic optic neuropathy. Invest Ophthalmol Vis Sci 2015;56:682-692.
47.
Framme C, Wolf S, Wolf-Schnurrbusch U: Small dense particles in the retina observable by spectral-domain optical coherence tomography in age-related macular degeneration. Invest Ophthalmol Vis Sci 2012;53:5814-5818.
48.
Bolz M, Schmidt-Erfurth U, Deak G, Mylonas G, Kriechbaum K, Scholda C: Optical coherence tomographic hyperreflective foci: a morphologic sign of lipid extravasation in diabetic macular edema. Ophthalmology 2009;116:914-920.
49.
Kuroda M, Hirami Y, Hata M, Mandai M, Takahashi M, Kurimoto Y: Intraretinal hyperreflective foci on spectral-domain optical coherence tomographic images of patients with retinitis pigmentosa. Clin Ophthalmol 2014;8:435-440.
50.
Gupta N, Brown KE, Milam AH, Milam AH: Activated microglia in human retinitis pigmentosa, late-onset retinal degeneration, and age-related macular degeneration. Exp Eye Res 2003;76:463-471.
51.
Marc RE, Jones BW, Watt CB, Strettoi E: Neural remodeling in retinal degeneration. Prog Retin Eye Res 2003;22:607-655.
52.
Li ZY, Kljavin IJ, Milam AH: Rod photoreceptor neurite sprouting in retinitis pigmentosa. J Neurosci 1995;15:5429-5438.
53.
Oishi A, Otani A, Sasahara M, Kurimoto M, Nakamura H, Kojima H, Yoshimura N: Retinal nerve fiber layer thickness in patients with retinitis pigmentosa. Eye (Lond) 2009;23:561-566.
54.
Walia S, Fishman GA, Edward DP, Lindeman M: Retinal nerve fiber layer defects in RP patients. Invest Ophthalmol Vis Sci 2007;48:4748-4752.
55.
Anastasakis A, Genead MA, McAnany JJ, Fishman GA: Evaluation of retinal nerve fiber layer thickness in patients with retinitis pigmentosa using spectral-domain optical coherence tomography. Retina 2012;32:358-363.
56.
Xue K, Wang M, Chen J, Huang X, Xu G: Retinal nerve fiber layer analysis with scanning laser polarimetry and RTVue-OCT in patients of retinitis pigmentosa. Ophthalmologica 2013;229:38-42.
57.
Yıldırım MA, Erden B, Tetikoglu M, Kuru O, Elcioglu M: Analysis of the retinal nerve fiber layer in retinitis pigmentosa using optic coherence tomography. J Ophthalmol 2015;2015:157365.
58.
Garcia-Martin E, Rodriguez-Mena D, Dolz I, Almarcegui C, Gil-Arribas L, Bambo MP, Larrosa JM, Polo V, Pablo LE: Influence of cataract surgery on optical coherence tomography and neurophysiology measurements in patients with retinitis pigmentosa. Am J Ophthalmol 2013;156:293-303.
59.
Hwang YH, Kim SW, Kim YY, Na JH, Kim HK, Sohn YH: Optic nerve head, retinal nerve fiber layer, and macular thickness measurements in young patients with retinitis pigmentosa. Curr Eye Res 2012;37:914-920.
60.
Newman NM, Stevens RA, Heckenlively JR: Nerve fibre layer loss in diseases of the outer retinal layer. Br J Ophthalmol 1987;71:21-26.
61.
Oishi A, Ogino K, Nakagawa S, Makiyama Y, Kurimoto M, Otani A, Yoshimura N: Longitudinal analysis of the peripapillary retinal nerve fiber layer thinning in patients with retinitis pigmentosa. Eye (Lond) 2013;27:597-604.
62.
Budenz DL, Anderson DR, Varma R, Schuman J, Cantor L, Savell J, Greenfield DS, Patella VM, Quigley HA, Tielsch J: Determinants of normal retinal nerve fiber layer thickness measured by Stratus OCT. Ophthalmology 2007;114:1046-1052.
63.
Sung KR, Wollstein G, Bilonick RA, Townsend KA, Ishikawa H, Kagemann L, Noecker RJ, Fujimoto JG, Schuman JS: Effects of age on optical coherence tomography measurements of healthy retinal nerve fiber layer, macula, and optic nerve head. Ophthalmology 2009;116:1119-1124.
64.
Kim MJ, Park KH, Yoo BW, Jeoung JW, Kim HC, Kim DM: Comparison of macular GCIPL and peripapillary RNFL deviation maps for detection of glaucomatous eye with localized RNFL defect. Acta Ophthalmol 2015;93:e22-e28.
65.
Kim KE, Park KH, Jeoung JW, Kim SH, Kim DM: Severity-dependent association between ganglion cell inner plexiform layer thickness and macular mean sensitivity in open-angle glaucoma. Acta Ophthalmol 2014;92:e650-e656.
66.
Ishiyama Y, Murata H, Hirasawa H, Asaoka R: Estimating the usefulness of Humphrey perimetry gaze tracking for evaluating structure-function relationship in glaucoma. Invest Ophthalmol Vis Sci 2015;56:7801-7805.
67.
Moschos MM, Chatziralli IP, Verriopoulos G, Triglianos A, Ladas DS, Brouzas D: Correlation between optical coherence tomography and multifocal electroretinogram findings with visual acuity in retinitis pigmentosa. Clin Ophthalmol 2013;7:2073-2078.
68.
Sandberg MA, Brockhurst RJ, Gaudio AR, Berson EL: Visual acuity is related to parafoveal retinal thickness in patients with retinitis pigmentosa and macular cysts. Invest Ophthalmol Vis Sci 2008;49:4568-4572.
69.
Ferry AP, Llovera I, Shafer DM: Central areolar choroidal dystrophy. Arch Ophthalmol 1972;88:39-43.
70.
Shintani K, Shechtman DL, Gurwood AS: Review and update: current treatment trends for patients with retinitis pigmentosa. Optometry 2009;80:384-401.
71.
Adhi M, Regatieri CV, Branchini LA, Zhang JY, Alwassia AA, Duker JS: Analysis of the morphology and vascular layers of the choroid in retinitis pigmentosa using spectral-domain OCT. Ophthalmic Surg Lasers Imaging Retina 2013;44:252-259.
72.
Korte GE, Reppucci V, Henkind P: RPE destruction causes choriocapillary atrophy. Invest Ophthalmol Vis Sci 1984;25:1135-1145.
73.
Neuhardt T, May CA, Wilsch C, Eichhorn M, Lütjen-Drecoll E: Morphological changes of retinal pigment epithelium and choroid in rd-mice. Exp Eye Res 1999;68:75-83.
74.
Saint-Geniez M, Kurihara T, Sekiyama E, Maldonado AE, D'Amore PA: An essential role for RPE-derived soluble VEGF in the maintenance of the choriocapillaris. Proc Natl Acad Sci USA 2009;106:18751-18756.
75.
Finzi A, Cellini M, Strobbe E, Campos EC: Et-1 plasma levels, choroidal thickness and multifocal electroretinogram in retinitis pigmentosa. Life Sci 2014;118:386-390.
76.
Tanito M, Kaidzu S, Anderson RE: Delayed loss of cone and remaining rod photoreceptor cells due to impairment of choroidal circulation after acute light exposure in rats. Invest Ophthalmol Vis Sci 2007;48:1864-1872.
77.
Ayton LN, Guymer RH, Luu CD: Choroidal thickness profiles in retinitis pigmentosa. Clin Experiment Ophthalmol 2013;41:396-403.
78.
Testa F, Rossi S, Colucci R, Gallo B, Di Iorio V, della Corte M, Azzolini C, Melillo P, Simonelli F: Macular abnormalities in Italian patients with retinitis pigmentosa. Br J Ophthalmol 2014;98:946-950.
79.
Hirakawa H, Iijima H, Gohdo T, Tsukahara S: Optical coherence tomography of cystoid macular edema associated with retinitis pigmentosa. Am J Ophthalmol 1999;128:185-191.
80.
Makiyama Y, Oishi A, Otani A, Ogino K, Nakagawa S, Kurimoto M, Yoshimura N: Prevalence and spatial distribution of cystoid spaces in retinitis pigmentosa: Investigation with spectral domain optical coherence tomography. Retina 2014;34:981-988.
81.
Hagiwara A, Yamamoto S, Ogata K, Sugawara T, Hiramatsu A, Shibata M, Mitamura Y: Macular abnormalities in patients with retinitis pigmentosa: prevalence on OCT examination and outcomes of vitreoretinal surgery. Acta Ophthalmol 2011;89:e122-e125.
82.
Giusti C, Forte R, Vingolo EM: Clinical pathogenesis of macular holes in patients affected by retinitis pigmentosa. Eur Rev Med Pharmacol Sci 2002;6:45-48.
83.
Gorovoy IR, Gallagher DS, Eller AW, Mayercik VA, Friberg TR, Schuman JS: Cystoid macular edema in retinitis pigmentosa patients without associated macular thickening. Semin Ophthalmol 2013;28:79-83.
84.
Tso MO: Pathology of cystoid macular edema. Ophthalmology 1982;89:902-915.
85.
Bringmann A, Reichenbach A, Wiedemann P: Pathomechanisms of cystoid macular edema. Ophthalmic Res 2004;36:241-249.
86.
Antcliff RJ, Hussain AA, Marshall J: Hydraulic conductivity of fixed retinal tissue after sequential excimer laser ablation: barriers limiting fluid distribution and implications for cystoid macular edema. Arch Ophthalmol 2001;119:539-544.
87.
Bunt-Milam AH, Saari JC, Klock IB, Garwin GG: Zonulae adherentes pore size in the external limiting membrane of the rabbit retina. Invest Ophthalmol Vis Sci 1985;26:1377-1380.
88.
Moustafa GA, Moschos MM: Intravitreal aflibercept (Eylea) injection for cystoid macular edema secondary to retinitis pigmentosa - a first case report and short review of the literature. BMC Ophthalmol 2015;15:44.
89.
Hajali M, Fishman GA, Anderson RJ: The prevalence of cystoid macular oedema in retinitis pigmentosa patients determined by optical coherence tomography. Br J Ophthalmol 2008;92:1065-1068.
90.
Ng CH, Cheung N, Wang JJ, Islam AF, Kawasaki R, Meuer SM, Cotch MF, Klein BE, Klein R, Wong TY: Prevalence and risk factors for epiretinal membranes in a multi-ethnic United States population. Ophthalmology 2011;118:694-699.
© 2016 S. Karger AG, Basel
2016
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.