Multimodal imaging characteristics of combined hamartoma of the retina and retinal pigment epithelium_Chinese Journal of Ocular Fundus Diseases

Authors：

Li Zijing , Liao Yunru , Zeng Peng , Zeng Rui ,  Lan Yuqing

Department of Ophthalmology, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou 510020, China;

Corresponding author：

Lan Yuqing, Email: lanyq@mail.sysu.edu.cn

Keywords：

Retinal diseases; Hamartoma/diagnosis; Multimodal imaging characteristics

DOI：

10.3760/cma.j.issn.1005-1015.2019.04.005

Video：

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Objective To observe the multimodal imaging characteristics of combined hamatoma of the retina and retinal pigment epithelium (CHRRPE).Methods A retrospective case study. From January 2013 to December 2017, 6 CHRRPE patients (6 eyes) diagnosed in Department of Ophthalmology, Sun Yat-sen Memorial Hospital were included in the study. There were 4 males and 2 females, with the mean age of 12.0±8.10 years. There were 5 eyes with BCVA ≤0.1, 1 eye with BCVA＞1.0. Corneal fluoroscopy showed 1 eye with an external oblique 15°, and the remaining eye had no abnormalities in the anterior segment. All eyes underwent fundus color photography, FAF, FFA, ICGA, OCT and color Doppler flow imaging (CDFI). The multimodal imaging characteristics were observed.Results All the affected eyes CHRRPE were located in the posterior pole and showed mild elevation. Most of the retinal neuroepithelial layers had different degrees of hyperplasia, vascular tortuosity and retinal folds. Of the 6 eyes, 4 eyes (66.7%) involving the macula and optic disc, only 2 eyes (33.3%) involving the macula. OCT showed that the structure of the neuroepithelial layer was unclear and the signal intensity was uneven; it involved 2 eyes of the whole retina (33.3%) and only 4 eyes of the neuroepithelial layer (66.7%). FFA and ICGA showed that the choroidal background fluorescence of the early lesions was weakened, and the lesions showed slightly weak fluorescence; the late telangiectasia fluorescein was obviously leaked, and the lesions were stained with fluorescence. FAF mainly appears as weak autofluorescence with a small amount of strong autofluorescence. CDFI has no characteristic performance.Conclusions CHRRPE is mainly a membrane-like hyperplasia without angiogenesis, involving the retinal neuroepithelial layer, and may also involve the entire retina. OCT is dominated by strong reflection; AF, FFA and ICGA are mainly weak fluorescence.

Citation： Li Zijing, Liao Yunru, Zeng Peng, Zeng Rui, Lan Yuqing. Multimodal imaging characteristics of combined hamartoma of the retina and retinal pigment epithelium. Chinese Journal of Ocular Fundus Diseases, 2019, 35(4): 338-341. doi: 10.3760/cma.j.issn.1005-1015.2019.04.005 Copy

1.	Gass JD. An unusual hamartoma of the pigment epithelium and retina simulating choroidal melanoma and retinoblastoma[J]. Trans Am Ophthalmol Soc, 1973, 71: 171-185.
2.	张潇, 董方田, 戴荣平, 等. 拟诊视网膜和视网膜色素上皮联合错构瘤的临床特征分析[J]. 中华眼科杂志, 2009, 45(5): 406-411. DOI: 10.3760/cma.j.issn.0412-4081.2009.05.006.Zhang X, Dong FT, Dai RP, et al. Clinical characteristics of suspected combined hamartoma of the retina and retinal pigment epithelium[J]. Chin J Ophthalmol, 2009, 45(5): 406-411. DOI: 10.3760/cma.j.issn.0412-4081.2009.05.006.
3.	Scupola A, Grimaldi G, Sammarco MG, et al.Multimodal imaging evaluation of combined hamartoma of the retina and retinal pigment epithelium[J/OL]. Eur J Ophthalmol, 2019, 2019: E1[2019-02-14]. https://doi.org/10.1177/1120672119831223. DOI: 10.1177/1120672119831223. [published online ahead of print].
4.	Xue K, Mellington F, Gout I, et al. Combined hamartoma of the retina and retinal pigment Epithelium[J/OL]. BMJ Case Rep, 2012, 2012: E1[2012-11-15]. http://dx.doi.org/10.1136/bcr-2012-006944. DOI: 10.1136/bcr-2012-006944.[published online ahead of print].
5.	Arepalli S, Pellegrini M, Ferenczy SR, et al. Combined hamartoma of the retina and retinal pigment epithelium: findings on enhanced depth imaging optical coherence tomography in eight eyes[J]. Retina, 2014, 34(11): 2202-2207. DOI: 10.1097/IAE.0000000000000220.
6.	Kumar V, Chawla R, Tripathy K. Omega sign: a distinct optical coherence tomography finding in macular combined hamartoma of retina and retinal pigment epithelium[J]. Ophthalmic Surg Lasers Imaging Retina, 2017, 48(2): 122-125. DOI: 10.3928/23258160-20170130-05.
7.	Ting TD, McCuen BW 2nd, Fekrat S. Combined hamartoma of the retina and retinal pigment epithelium: optical coherence tomography[J]. Retina, 2002, 22(1): 98-101. DOI: 10.1097/00006982-200202000-00016.
8.	McDonald HR, Abrams GW, Burke JM, et al. Clinicopathologic results of vitreous surgery for epiretinal membranes in patients with combined retinal and retinal pigment epithelial hamartomas[J]. Am J Ophthalmol, 1985, 100(6): 806-813. DOI: 10.1016/S0002-9394(14)73372-0.
9.	张鹏, 惠延年, 张自峰, 等. 视网膜和视网膜色素上皮联合错构瘤的眼底影像特征[J]. 中华眼底病杂志, 2014, 30(6): 554-557. DOI: 10.3760/cma.j.issn.1005-1015.2014.06.005.Zhang P, Hui YN, Zhang ZF, et al. Characteristics of fundus image in combined hamartoma of the retina and retinal pigment epithelium[J]. Chin J Ocul Fundus Dis, 2014, 30(6): 554-557. DOI: 10.3760/cma.j.issn.1005-1015.2014.06.005.
10.	Dave TV, Dave V, Pappuru RR. Combined hamartoma of the retina and retinal pigment epithelium with hypo-autofluorescence and cystic degeneration at the macula[J]. Clin Exp Optom, 2014, 97(5): 475-476. DOI: 10.1111/cxo.12164.
11.	Kaprinis K, Bobat H, De Salvo G. MultiColor^TM imaging in combined hamartoma of the retina and retinal pigment epithelium[J]. Eye (Lond), 2018, 32(9): 1478-1482. DOI: 10.1038/s41433-018-0123-2.
12.	Kozak I, Morrison VL, Clark TM, et al. Discrepancy between fluorescein angiography and optical coherence tomography in detection of macular disease[J]. Retina, 2008, 28(4): 538-544. DOI: 10.1097/IAE.0b013e318167270b.
13.	López-Sáez MP, Ordoqui E, Tornero P, et al. Fluorescein-induced allergic reaction[J]. Ann Allergy Asthma Immunol, 1998, 81(5): 428-430. DOI: 10.1016/S1081-1206(10)63140-7.
14.	Chawla R, Kumar V, Tripathy K, et al. Combined hamartoma of the retina and retinal pigment epithelium: an optical coherence tomography-based reappraisal[J]. Am J Ophthalmol, 2017, 181: 88-96. DOI: 10.1016/j.ajo.2017.06.020.
15.	Font RL, Moura RA, Shetlar DJ, et al. Combined hamartoma of sensory retina and retinal pigment epithelium[J]. Retina, 1989, 9(4): 302-311. DOI: 10.1097/00006982-198909040-00011.
16.	Shields JA, Shields CL. Tumors and related lesions of the pigmented epithelium[J]. Asia Pac J Ophthalmol (Phila), 2017, 6(2): 215-223. DOI: 10.22608/APO.201705.
17.	Cennamo G, Romano MR, Breve MA, et al. Multimodal imaging of combined hamartoma of the retina and retinal pigment epithelium[J]. Acta Ophthalmol, 2017, 95(7): 664-665. DOI: 10.1111/aos.13308.
18.	Renz J, Fein JG, Vora R, et al. Unilateral retinal pigment epithelium dysgenesis may be a bilateral disease[J]. Arch Ophthalmol, 2012, 130(10): 1340-1342. DOI: 10.1001/archophthalmol.2012.845.
19.	Yamasaki A, Tominaga T, Ishikura R, et al. A case of unilateral retinal pigment epithelium dysgenesis[J]. Retin Cases Brief Rep, 2017, 11(2): 156-159. DOI: 10.1097/ICB.0000000000000317.

1. Gass JD. An unusual hamartoma of the pigment epithelium and retina simulating choroidal melanoma and retinoblastoma[J]. Trans Am Ophthalmol Soc, 1973, 71: 171-185.
2. 张潇, 董方田, 戴荣平, 等. 拟诊视网膜和视网膜色素上皮联合错构瘤的临床特征分析[J]. 中华眼科杂志, 2009, 45(5): 406-411. DOI: 10.3760/cma.j.issn.0412-4081.2009.05.006.Zhang X, Dong FT, Dai RP, et al. Clinical characteristics of suspected combined hamartoma of the retina and retinal pigment epithelium[J]. Chin J Ophthalmol, 2009, 45(5): 406-411. DOI: 10.3760/cma.j.issn.0412-4081.2009.05.006.
3. Scupola A, Grimaldi G, Sammarco MG, et al.Multimodal imaging evaluation of combined hamartoma of the retina and retinal pigment epithelium[J/OL]. Eur J Ophthalmol, 2019, 2019: E1[2019-02-14]. https://doi.org/10.1177/1120672119831223. DOI: 10.1177/1120672119831223. [published online ahead of print].
4. Xue K, Mellington F, Gout I, et al. Combined hamartoma of the retina and retinal pigment Epithelium[J/OL]. BMJ Case Rep, 2012, 2012: E1[2012-11-15]. http://dx.doi.org/10.1136/bcr-2012-006944. DOI: 10.1136/bcr-2012-006944.[published online ahead of print].
5. Arepalli S, Pellegrini M, Ferenczy SR, et al. Combined hamartoma of the retina and retinal pigment epithelium: findings on enhanced depth imaging optical coherence tomography in eight eyes[J]. Retina, 2014, 34(11): 2202-2207. DOI: 10.1097/IAE.0000000000000220.
6. Kumar V, Chawla R, Tripathy K. Omega sign: a distinct optical coherence tomography finding in macular combined hamartoma of retina and retinal pigment epithelium[J]. Ophthalmic Surg Lasers Imaging Retina, 2017, 48(2): 122-125. DOI: 10.3928/23258160-20170130-05.
7. Ting TD, McCuen BW 2nd, Fekrat S. Combined hamartoma of the retina and retinal pigment epithelium: optical coherence tomography[J]. Retina, 2002, 22(1): 98-101. DOI: 10.1097/00006982-200202000-00016.
8. McDonald HR, Abrams GW, Burke JM, et al. Clinicopathologic results of vitreous surgery for epiretinal membranes in patients with combined retinal and retinal pigment epithelial hamartomas[J]. Am J Ophthalmol, 1985, 100(6): 806-813. DOI: 10.1016/S0002-9394(14)73372-0.
9. 张鹏, 惠延年, 张自峰, 等. 视网膜和视网膜色素上皮联合错构瘤的眼底影像特征[J]. 中华眼底病杂志, 2014, 30(6): 554-557. DOI: 10.3760/cma.j.issn.1005-1015.2014.06.005.Zhang P, Hui YN, Zhang ZF, et al. Characteristics of fundus image in combined hamartoma of the retina and retinal pigment epithelium[J]. Chin J Ocul Fundus Dis, 2014, 30(6): 554-557. DOI: 10.3760/cma.j.issn.1005-1015.2014.06.005.
10. Dave TV, Dave V, Pappuru RR. Combined hamartoma of the retina and retinal pigment epithelium with hypo-autofluorescence and cystic degeneration at the macula[J]. Clin Exp Optom, 2014, 97(5): 475-476. DOI: 10.1111/cxo.12164.
11. Kaprinis K, Bobat H, De Salvo G. MultiColor^TM imaging in combined hamartoma of the retina and retinal pigment epithelium[J]. Eye (Lond), 2018, 32(9): 1478-1482. DOI: 10.1038/s41433-018-0123-2.
12. Kozak I, Morrison VL, Clark TM, et al. Discrepancy between fluorescein angiography and optical coherence tomography in detection of macular disease[J]. Retina, 2008, 28(4): 538-544. DOI: 10.1097/IAE.0b013e318167270b.
13. López-Sáez MP, Ordoqui E, Tornero P, et al. Fluorescein-induced allergic reaction[J]. Ann Allergy Asthma Immunol, 1998, 81(5): 428-430. DOI: 10.1016/S1081-1206(10)63140-7.
14. Chawla R, Kumar V, Tripathy K, et al. Combined hamartoma of the retina and retinal pigment epithelium: an optical coherence tomography-based reappraisal[J]. Am J Ophthalmol, 2017, 181: 88-96. DOI: 10.1016/j.ajo.2017.06.020.
15. Font RL, Moura RA, Shetlar DJ, et al. Combined hamartoma of sensory retina and retinal pigment epithelium[J]. Retina, 1989, 9(4): 302-311. DOI: 10.1097/00006982-198909040-00011.
16. Shields JA, Shields CL. Tumors and related lesions of the pigmented epithelium[J]. Asia Pac J Ophthalmol (Phila), 2017, 6(2): 215-223. DOI: 10.22608/APO.201705.
17. Cennamo G, Romano MR, Breve MA, et al. Multimodal imaging of combined hamartoma of the retina and retinal pigment epithelium[J]. Acta Ophthalmol, 2017, 95(7): 664-665. DOI: 10.1111/aos.13308.
18. Renz J, Fein JG, Vora R, et al. Unilateral retinal pigment epithelium dysgenesis may be a bilateral disease[J]. Arch Ophthalmol, 2012, 130(10): 1340-1342. DOI: 10.1001/archophthalmol.2012.845.
19. Yamasaki A, Tominaga T, Ishikura R, et al. A case of unilateral retinal pigment epithelium dysgenesis[J]. Retin Cases Brief Rep, 2017, 11(2): 156-159. DOI: 10.1097/ICB.0000000000000317.

Chinese Journal of Ocular Fundus Diseases

Multimodal imaging characteristics of combined hamartoma of the retina and retinal pigment epithelium

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