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07.07.2020 | Letter to Editor

Ocular Manifestations of Chronic Granulomatous Disease: First Report of Coats’ Disease and Literature Review

verfasst von: Mahsima Shabani, Roxana Pazouki, Mahmoud Parvin, Alireza Khodabande, Karin van Leeuwen, Mohammad Shahrooei, Nima Parvaneh

Erschienen in: Journal of Clinical Immunology | Ausgabe 6/2020

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To the Editor, …

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Itan Y, Shang L, Boisson B, Ciancanelli MJ, Markle JG, Martinez-Barricarte R, et al. The mutation significance cutoff: gene-level thresholds for variant predictions. Nat Methods. 2016;13(2):109–10.CrossRef

Winkelstein JA, Marino MC, Johnston RB Jr, Boyle J, Curnutte J, Gallin JI, et al. Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine (Baltimore). 2000;79:155–69.CrossRef

Koker MY, Camcioglu Y, van Leeuwen K, Kilic SS, Barlan I, Yilmaz M, et al. Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. J Allergy Clin Immunol. 2013;132:1156–63.e5.CrossRef

Magnani A, Brosselin P, Beaute J, de Vergnes N, Mouy R, Debre M, et al. Inflammatory manifestations in a single-center cohort of patients with chronic granulomatous disease. J Allergy Clin Immunol. 2014;134:655–62.e8.CrossRef

Lugo Reyes SO, Ramirez-Vazquez G, Cruz Hernandez A, Medina-Torres EA, Ramirez-Lopez AB, Espana-Cabrera C, et al. Clinical features, non-infectious manifestations and survival analysis of 161 children with primary immunodeficiency in Mexico: A single center experience over two decades. J Clin Immunol. 2016;36(1):56–65.

Wolach B, Scharf Y, Gavrieli R, de Boer M, Roos D. Unusual late presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB. Blood. 2005;105(1):61–6.

Wolach B, Gavrieli R, de Boer M, van Leeuwen K, Berger-Achituv S, Stauber T, et al. Chronic granulomatous disease: Clinical, functional, molecular, and genetic studies. The Israeli experience with 84 patients. Am J Hematol. 2017;92:28–36.

Angioi K, Terrada C, Locatelli A, Hoang PL, Bene MC, Bodaghi B. Ocular manifestations of X-linked chronic granulomatous disease: about two atypical case reports. Ocul Immunol Inflamm. 2015;23:458–61.

Vaziri K, Moshfeghi AA, Moshfeghi DM. Fundus findings in chronic granulomatous disease. OSLI Retina. 2013;44(4):390–2.

10.

Herzlich AA, Yeh S, Shen D, Ding X, Uzel G, Holland SM, et al. Identification of pseudomonas aeruginosa DNA in a chorioretinal lesion associated with chronic granulomatous disease. J Clin Pathol. 2008;61(11):1229–30.

11.

Wang Y, Marciano BE, Shen D, Bishop RJ, Park S, Holland SM, et al. Molecular identification of bacterial DNA in the chorioretinal scars of chronic granulomatous disease. J Clin Immunol. 2013;33:917–24.

12.

Fattahi F, Badalzadeh M, Sedighipour L, Movahedi M, Fazlollahi MR, Mansouri SD, et al. Inheritance pattern and clinical aspects of 93 Iranian patients with chronic granulomatous disease. J Clin Immunol. 2011;31(5):792–801.

13.

Panagiotopoulos M, Sonne H. Chronic granulomatous disease and serious unilateral keratitis with bilateral conjunctivitis: a rare case of external ocular disease. Acta Ophthalmol. 2011;89(3):e296–7.

14.

Van den Berg JM, Van Koppen E, Åhlin A, Belohradsky BH, Bernatowska E, Corbeel L, et al. Chronic granulomatous disease: the European experience. PLoS One. 2009;4(4):e5234.

15.

Al-Muhsen S, Al-Hemidan A, Al-Shehri A, Al-Harbi A, Al-Ghonaium A, Al-Saud B, et al. Ocular manifestations in chronic granulomatous disease in Saudi Arabia. J AAPOS. 2009;13(4):396–9.

16.

Martire B, Rondelli R, Soresina A, Pignata C, Broccoletti T, Finocchi A, et al. Clinical features, long-term follow-up and outcome of a large cohort of patients with chronic granulomatous disease: an Italian multicenter study. Clin Immunol. 2008;126(2):155–64.

17.

Khetarpal S, Yeh S, Smith JA. Ophthalmic manifestations of chronic granulomatous disease. Invest Ophth Vis Sci. 2008;49:809.

18.

Clifford L, Newsom R. Spontaneous cystoid macula oedema in chronic granulomatous disease: a new posterior segment sign. Eye. 2006;20:9.

19.

Buggage R, Bauer R, Holland S, Santos C, Chan C. Uveitis and a subretinal mass in a patient with chronic granulomatous disease. Br J Ophthalmol. 2006;90(4):514–5.

20.

Leroux K, Mallon E, Ayliffe WH. Chronic granulomatous disease and peripheral ulcerative keratitis: a rare case of recurrent external ocular disease. Bull Soc Belge Ophtalmol. 2004;293:47–53.

21.

Kim S-J, Kim JG, Yu YS. Chorioretinal lesions in patients with chronic granulomatous disease. Retina. 2003;23(3):360–5.

22.

Djalilian AR, Smith JA, Walsh TJ, Malech HL, Robinson MR. Keratitis caused by Candida glabrata in a patient with chronic granulomatous disease. Am J Ophthalmol. 2001;132(5):782–3.

23.

Goldblatt D, Butcher J, Thrasher AJ, Russell-Eggitt I. Chorioretinal lesions in patients and carriers of chronic granulomatous disease. J Pediatr. 1999;134:780–3.CrossRef

24.

Valluri S, Chu FC, Smith ME. Ocular pathologic findings of chronic granulomatous disease of childhood. Am J Ophthalmol. 1995;120(1):120–3.

25.

Grossniklaus HE, Frank KE, Jacobs G. Chorioretinal lesions in chronic granulomatous disease of childhood. clinicopathologic correlations. Retina (Philadelphia, Pa). 1988;8(4):270–4.

26.

Palestine AG, Meyers SM, Fauci AS, Gallin JI. Ocular findings in patients with neutrophil dysfunction. Am J Ophthalmol. E1983;95(5):598-604.

27.

Martyn LJ, Lischner HW, Pileggi AJ, Harley RD. Chorioretinal lesions in familial chronic granulomatous disease of childhood. Am J Ophthalmol. 1972;73(3):403–18.

28.

Sigler EJ, Randolph JC, Calzada JI, Wilson MW, Haik BG. Current management of Coats disease. Surv Ophthalmol. 2014;59:30–46.CrossRef

Titel: Ocular Manifestations of Chronic Granulomatous Disease: First Report of Coats’ Disease and Literature Review
verfasst von: Mahsima Shabani
Roxana Pazouki
Mahmoud Parvin
Alireza Khodabande
Karin van Leeuwen
Mohammad Shahrooei
Nima Parvaneh
Publikationsdatum: 07.07.2020
Verlag: Springer US
Erschienen in: Journal of Clinical Immunology / Ausgabe 6/2020
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-020-00810-w

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