Novel findings in enhanced S-cone syndrome: a case with macular retinal neovascularization and severe retinal vasculitis
To describe a novel association of enhanced S-cone syndrome (ESCS) with macular retinal neovascularization and severe retinal vasculitis.
Clinical examination, spectral domain optical coherence tomography, fluorescein angiography, fundus autofluorescence, infrared reflectance and electroretinography were used to study a 25-year-old male with a history of night blindness from early childhood and recent accelerated visual loss in right eye.
Pigmented lesions were observed along the arcades without peripheral retinal involvement. Intraretinal cystoid spaces, retinal neovascularization of posterior pole and severe peripheral and posterior retinal vasculitis were found on clinical examination and multimodal imaging. Based on characteristic clinical and electroretinographic findings, a diagnosis of ESCS was made.
This case highlights novel associations of retinal neovascularization and vasculitis with ESCS.
KeywordsEnhanced S-cone syndrome Electroretinography Neovascularization Retinal vasculitis
Compliance with ethical standards
Conflict of interest
The authors declare that they have no conflict of interest.
Statement of human rights
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 Declaration of Helsinki and its later amendments or comparable ethical standards.
Statement on the welfare of animals
This article does not contain any studies with animals performed by any of the authors.
Informed consent was obtained from all participants included in the study.
The patient has consented to the submission of the case report for submission to the journal.
- 1.Yzer S, Barbazetto I, Allikmets R, Van Schooneveld MJ, Bergen A, Tsang SH, Jacobson SG, Yannuzzi LA (2013) Expanded clinical spectrum of enhanced S-cone syndrome. JAMA Ophthalmol 131(10):1324–1330Google Scholar
- 2.Jacobson SG, Marmor MF, Kemp CM, Knighton RW (1990) SWS (blue) cone hypersensitivity in a newly identified retinal degeneration. Invest Ophthalmol Vis Sci 31(5):827–838Google Scholar
- 3.Kadayıfçılar S, Eldem B, Kıratlı H (2000) Retinitis pigmentosa associated with peripheral sea fan neovascularization. Acta Ophthalmol Scand 78(5):593–595Google Scholar
- 4.To KW, Nadel AJ, Perlstein SH, Margolis S (1991) Bilateral optic disc neovascularization in association with retinitis pigmentosa. Can J Ophthalmol 26(3):152–155Google Scholar
- 5.Kaufman M, Medina-Mendez C, Friberg T, Eller A (2013) Evaluation of peripheral retinal vasculitis in retinitis pigmentosa using wide-field fluorescein angiography. ARVO Annual Meeting Abstract. Invest Ophthalmol Vis Sci 54:4018Google Scholar
- 6.Uliss AE, Gregor ZJ, Bird AC (1986) Retinitis pigmentosa and retinal neovascularization. Ophthalmology 93(12):1599–1603Google Scholar
- 8.Broadhead GK, Grigg JR, McCluskey P, Korsakova M, Chang AA (2016) Bevacizumab for choroidal neovascularisation in enhanced S-cone syndrome. Doc Ophthalmol 133(2):139–143Google Scholar
- 9.Sambricio J, Tejada-Palacios P, Barceló-Mendiguchía A (2016) Choroidal neovascularization, outer retinal tubulation and fundus autofluorescence findings in a patient with enhanced S-cone syndrome. Clin Exp Ophthalmol 44(1):69–71Google Scholar
- 10.Nakamura M, Hotta Y, Piao CH, Kondo M, Terasaki H, Miyake Y (2002) Enhanced S-cone syndrome with subfoveal neovascularization. Am J Ophthalmol 133(4):575–577Google Scholar
- 11.McCulloch DL, Marmor MF, Brigell MG, Hamilton R, Holder GE, Tzekov R, Bach M (2015) ISCEV Standard for full-field clinical electroretinography (2015 update). Doc Ophthalmol 130(1):1–12Google Scholar
- 12.Hood DC, Cideciyan AV, Roman AJ, Jacobson SG (1995) Enhanced S cone syndrome: evidence for an abnormally large number of S cones. Vis Res 35(10):1473–1481Google Scholar
- 13.Sternberg P Jr, Landers MB 3rd, Wolbarsht M (1984) The negative coincidence of retinitis pigmentosa and proliferative diabetic retinopathy. Am J Ophthalmol 97:788–789Google Scholar
- 14.Arden GB (2001) The absence of diabetic retinopathy in patients with retinitis pigmentosa: implications for pathophysiology and possible treatment. Br J Ophthalmol 85(3):366–370Google Scholar
- 15.Chen YF, Chen HY, Lin CC, Chen MS, Chen PC, Wang IJ (2012) Retinitis pigmentosa reduces the risk of proliferative diabetic retinopathy: a nationwide population-based cohort study. PLoS ONE 7(9):e45189Google Scholar
- 16.Carlomusto L, Paliotta S, Lupo S, Cavarretta S, Vingolo EM (2003) Drusen of the optic disk head in retinitis pigmentosa: HRT, OCT findings related to visual field damage. ARVO annual meeting abstract. Invest Ophthalmol Vis Sci 44:4884Google Scholar