{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T10:32:56Z","timestamp":1792146776130,"version":"4.4.0"},"reference-count":41,"publisher":"Springer Science and Business Media LLC","issue":"1","funder":[{"name":"Orphan Europe"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Ophthalmol Ther"],"published-print":{"date-parts":[[2017,6]]},"DOI":"10.1007\/s40123-017-0089-3","type":"journal-article","created":{"date-parts":[[2017,5,5]],"date-time":"2017-05-05T11:14:04Z","timestamp":1493982844000},"page":"93-104","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["Clinical Practice: A Proposed Standardized Ophthalmological Assessment for Patients with Cystinosis"],"prefix":"10.1007","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5258-8879","authenticated-orcid":false,"given":"Anne-Marie","family":"Pinxten","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minh-Tri","family":"Hua","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Simpson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katharina","family":"Hohenfellner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Levtchenko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingele","family":"Casteels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,5,5]]},"reference":[{"issue":"2","key":"89_CR1","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1056\/NEJMra020552","volume":"347","author":"WA Gahl","year":"2002","unstructured":"Gahl WA, Thoene JG, Schneider JA. Cystinosis. N Engl J Med. 2002;347(2):111\u201321.","journal-title":"N Engl J Med"},{"issue":"1\u20132","key":"89_CR2","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1006\/mgme.2000.3062","volume":"71","author":"WA Gahl","year":"2000","unstructured":"Gahl WA, Kuehl EM, Iwata F, Lindblad A, Kaiser-Kupfer MI. Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops. Mol Genet Metab. 2000;71(1\u20132):100\u201320.","journal-title":"Mol Genet Metab"},{"issue":"6","key":"89_CR3","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1007\/s00467-007-0650-8","volume":"23","author":"G Nesterova","year":"2008","unstructured":"Nesterova G, Gahl W. Nephropathic cystinosis: late complications of a multisystemic disease. Pediatr Nephrol. 2008;23(6):863\u201378.","journal-title":"Pediatr Nephrol."},{"issue":"5\u20136","key":"89_CR4","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1515\/bchm2.1903.38.5-6.557","volume":"38","author":"E Abderhalden","year":"1903","unstructured":"Abderhalden E. Famili\u00e4re Cystindiathese. Hoppe-Seyler\u00b4 s Zeitschrift f\u00fcr Physiol Chemie. 1903;38(5\u20136):557\u201361.","journal-title":"Hoppe-Seyler\u00b4 s Zeitschrift f\u00fcr Physiol Chemie"},{"issue":"19","key":"89_CR5","doi-asserted-by":"crossref","first-page":"6033","DOI":"10.1016\/S0021-9258(19)42214-X","volume":"249","author":"RG Oshima","year":"1974","unstructured":"Oshima RG, Willis RC, Furlong CE, Schneider JA. Binding assays for amino acids. The utilization of a cystine binding protein from Escherichia coli for the determination of acid-soluble cystine in small physiological samples. J Biol Chem. 1974;249(19):6033\u20139.","journal-title":"J Biol Chem"},{"issue":"22","key":"89_CR6","doi-asserted-by":"crossref","first-page":"13185","DOI":"10.1016\/S0021-9258(18)33425-2","volume":"257","author":"AJ Jonas","year":"1982","unstructured":"Jonas AJ, Smith ML, Schneider JA. ATP-dependent lysosomal cystine efflux is defective in cystinosis. J Biol Chem. 1982;257(22):13185\u20138.","journal-title":"J Biol Chem"},{"issue":"2","key":"89_CR7","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1101\/gr.10.2.165","volume":"10","author":"JW Touchman","year":"2000","unstructured":"Touchman JW, Anikster Y, Dietrich NL, Maduro VV, McDowell G, Shotelersuk V, et al. The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion. Genome Res. 2000;10(2):165\u201373.","journal-title":"Genome Res"},{"key":"89_CR8","volume-title":"The metabolic and molecular bases of inherited disease","author":"WA Gahl","year":"2001","unstructured":"Gahl WA, Thoene JG, Schneider JA. Cystinosis: a disorder of lysosomal membrane transport. In: Scriver C, Beaudet A, Sly W, et al., editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 2001."},{"issue":"July","key":"89_CR9","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1172\/JCI108448","volume":"58","author":"JG Thoene","year":"1976","unstructured":"Thoene JG, Oshima RG, Crawhall JC, Olson DL, Sghneder JA. Intracellular cystine depletion by aminothiols in vitro and in vivo. J Clin Invest. 1976;58(July):180\u20139.","journal-title":"J Clin Invest"},{"issue":"50","key":"89_CR10","doi-asserted-by":"crossref","first-page":"E3434","DOI":"10.1073\/pnas.1211198109","volume":"109","author":"A J\u00e9z\u00e9gou","year":"2012","unstructured":"J\u00e9z\u00e9gou A, Llinares E, Anne C, Kieffer-Jaquinod S, O\u2019Regan S, Aupetit J, et al. Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy. Proc Natl Acad Sci USA. 2012;109(50):E3434\u201343.","journal-title":"Proc Natl Acad Sci USA"},{"issue":"4","key":"89_CR11","doi-asserted-by":"crossref","first-page":"242","DOI":"10.7326\/0003-4819-147-4-200708210-00006","volume":"147","author":"WA Gahl","year":"2007","unstructured":"Gahl WA, Balog JZ, Kleta R. Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy. Ann Intern Med. 2007;147(4):242\u201350.","journal-title":"Ann Intern Med"},{"issue":"1","key":"89_CR12","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.survophthal.2006.10.006","volume":"52","author":"E Tsilou","year":"2007","unstructured":"Tsilou E, Zhou M, Gahl W, Sieving PC, Chan C-C. Ophthalmic manifestations and histopathology of infantile nephropathic cystinosis: report of a case and review of the literature. Surv Ophthalmol. 2007;52(1):97\u2013105.","journal-title":"Surv Ophthalmol"},{"issue":"5","key":"89_CR13","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1159\/000299940","volume":"101","author":"E B\u00fcrki","year":"1941","unstructured":"B\u00fcrki E. \u00dcber die Cystinkrankheit im Kleinkindesalter unter besonderer Ber\u00fccksichtigung des Augenbefundes. Ophthalmologica. 1941;101(5):257\u201372.","journal-title":"Ophthalmologica"},{"issue":"13","key":"89_CR14","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1056\/NEJM198703263161304","volume":"316","author":"MI Kaiser-Kupfer","year":"1987","unstructured":"Kaiser-Kupfer MI, Fujikawa L, Kuwabara T, Jain S, Gahl WA. Removal of corneal crystals by topical cysteamine in nephropathic cystinosis. N Engl J Med. 1987;316(13):775\u20139.","journal-title":"N Engl J Med."},{"key":"89_CR15","first-page":"181","volume":"12","author":"VG Wong","year":"1976","unstructured":"Wong VG. Ocular manifestations in cystinosis. Birth Defects Orig Artic Ser. 1976;12:181\u20136.","journal-title":"Birth Defects Orig Artic Ser"},{"key":"89_CR16","doi-asserted-by":"crossref","first-page":"870","DOI":"10.1016\/j.ophtha.2008.11.021","volume":"116","author":"A Labbe","year":"2009","unstructured":"Labbe A, Niaudet P, Loirat C, Charbit M, Guest GBC. In vivo confocal microscopy and anterior segment optical coherence tomography analysis of the cornea in nephropathic cystinosis. Ophthalmology. 2009;116:870\u20136.","journal-title":"Ophthalmology"},{"key":"89_CR17","doi-asserted-by":"crossref","first-page":"3218","DOI":"10.1167\/iovs.15-16499","volume":"56","author":"H Liang","year":"2015","unstructured":"Liang H, Baudouin C, Tahiri R, Hassani J, Labbe A. Photophobia and corneal crystal density in nephropathic cystinosis: an in vivo confocal microscopy and anterior-segment optical coherence tomography study. Invest Ophthalmol Vis Sci. 2015;56:3218\u201325.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"89_CR18","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1159\/000324078","volume":"48","author":"JS Weiss","year":"2011","unstructured":"Weiss JS, Khemichian AJ. Differential diagnosis of Schnyder corneal dystrophy. Dev Ophthalmol. 2011;48:67\u201396.","journal-title":"Dev Ophthalmol"},{"issue":"3","key":"89_CR19","doi-asserted-by":"crossref","first-page":"410","DOI":"10.4065\/79.3.410","volume":"79","author":"R Kleta","year":"2004","unstructured":"Kleta R, Blair SC, Bernardini I, Kaiser-Kupfer MI, Gahl WA. Keratopathy of multiple myeloma masquerading as corneal crystals of ocular cystinosis. Mayo Clin Proc. 2004;79(3):410\u20132.","journal-title":"Mayo Clin Proc"},{"issue":"2","key":"89_CR20","doi-asserted-by":"crossref","first-page":"131","DOI":"10.3109\/13816818709028529","volume":"8","author":"JL Dufier","year":"1987","unstructured":"Dufier JL, Dhermy P, Gubler MC, Gagnadoux MF, Broyer M. Ocular changes in long-term evolution of infantile cystinosis. Ophthalmic Paediatr Genet. 1987;8(2):131\u20137.","journal-title":"Ophthalmic Paediatr Genet."},{"issue":"3","key":"89_CR21","doi-asserted-by":"crossref","first-page":"142","DOI":"10.3928\/0191-3913-20030501-07","volume":"40","author":"P Dureau","year":"2003","unstructured":"Dureau P, Broyer M, Dufier JL. Evolution of ocular manifestations in nephropathic cystinosis: a long-term study of a population treated with cysteamine. J Pediatr Ophthalmol Strabismus. 2003;40(3):142\u20136.","journal-title":"J Pediatr Ophthalmol Strabismus"},{"key":"89_CR22","doi-asserted-by":"publisher","unstructured":"Mart\u00edn-Begu\u00e9 N, Alarc\u00f3n S, Wolley-Dod C, Lara LE, Madrid \u00c1, Cano P, et al. Intracranial hypertension in cystinosis is a challenge: experience in a children\u2019s hospital. JIMD Rep. 2016. doi: 10.1007\/8904_2016_18 .","DOI":"10.1007\/8904_2016_18"},{"issue":"5","key":"89_CR23","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1001\/archopht.1986.01050170096030","volume":"104","author":"MI Kaiser-Kupfer","year":"1986","unstructured":"Kaiser-Kupfer MI, Caruso RC, Minkler DS, Gahl WA. Long-term ocular manifestations in nephropathic cystinosis. Arch Ophthalmol. 1986;104(5):706\u201311.","journal-title":"Arch Ophthalmol"},{"key":"89_CR24","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1038\/eye.1991.139","volume":"5","author":"JA Bradbury","year":"1991","unstructured":"Bradbury JA, Danjoux JP, Voller J, Spencer M, Brocklebank T. A randomised placebo-controlled trial of topical cysteamine therapy in patients with nephropathic cystinosis. Eye. 1991;5:755\u201360.","journal-title":"Eye."},{"key":"89_CR25","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1136\/bjo.75.5.311","volume":"75","author":"NP Jones","year":"1991","unstructured":"Jones NP, Postlethwaite RJ, Noble JL. Clearance of corneal crystals in nephropathic cystinosis by topical cysteamine 0.5%. Br J Ophthalmol. 1991;75:311\u20132.","journal-title":"Br J Ophthalmol"},{"issue":"5","key":"89_CR26","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1001\/archopht.1990.01070070075038","volume":"108","author":"MI Kaiser-Kupfer","year":"1990","unstructured":"Kaiser-Kupfer MI, Gazzo MA, Datiles MB, Caruso RC, Kuehl EM, Gahl WA. A randomized placebo-controlled trial of cysteamine eye drops in nephropathic cystinosis. Arch Ophthalmol. 1990;108(5):689\u201393.","journal-title":"Arch Ophthalmol"},{"key":"89_CR27","doi-asserted-by":"crossref","first-page":"2077","DOI":"10.2147\/OPTH.S36626","volume":"8","author":"F Shams","year":"2014","unstructured":"Shams F, Livingstone I, Oladiwura D, Ramaesh K. Treatment of corneal cystine crystal accumulation in patients with cystinosis. Clin Ophthalmol. 2014;8:2077\u201384.","journal-title":"Clin Ophthalmol"},{"issue":"4","key":"89_CR28","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1006\/mgme.1998.2725","volume":"64","author":"F Iwata","year":"1998","unstructured":"Iwata F, Kuehl EM, Reed GF, McCain LM, Gahl WA, Kaiser-Kupfer MI. A randomized clinical trial of topical cysteamine disulfide (cystamine) versus free thiol (cysteamine) in the treatment of corneal cystine crystals in cystinosis. Mol Genet Metab. 1998;64(4):237\u201342.","journal-title":"Mol Genet Metab"},{"key":"89_CR29","unstructured":"European Commission. Community register of medicinal products for human use. In: Cystadrops\u2014Product information. Eur Comm [Internet]. 2017. http:\/\/ec.europa.eu\/health\/documents\/community-register\/html\/h1049.htm . Accessed 22 Apr 2017."},{"issue":"4","key":"89_CR30","doi-asserted-by":"crossref","first-page":"2275","DOI":"10.1167\/iovs.16-21080","volume":"58","author":"H Liang","year":"2017","unstructured":"Liang H, Labbe A, Le Mouhaer J, Plisson C, Baudouin C. A new viscous cysteamine eye drops treatment for ophthalmic cystinosis: an open-label randomized comparative phase III pivotal study. Invest Ophthalmol Vis Sci. 2017;58(4):2275\u201383.","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"5","key":"89_CR31","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1007\/s10384-008-0577-z","volume":"52","author":"U Keklikci","year":"2008","unstructured":"Keklikci U, Soker SI, Sakalar YB, Unlu K, Ozekinci S, Tunik S. Efficacy of topical cyclosporin A 0.05% in conjunctival impression cytology specimens and clinical findings of severe vernal keratoconjunctivitis in children. Jpn J Ophthalmol. 2008;52(5):357\u201362.","journal-title":"Jpn J Ophthalmol"},{"key":"89_CR32","unstructured":"(NICE) NI for H and CE. Icare rebound tonometer to measure intraocular pressure. 2016;1\u201338. www.nice.org.uk\/guidance\/mib57 . Accessed 22 Feb 2017."},{"issue":"7","key":"89_CR33","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1097\/00003226-200310000-00008","volume":"22","author":"AJ Bron","year":"2003","unstructured":"Bron AJ, Evans VE, Smith JA. Grading of corneal and conjunctival staining in the context of other dry eye tests. Cornea. 2003;22(7):640\u201350.","journal-title":"Cornea"},{"issue":"3","key":"89_CR34","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1016\/j.nefro.2015.05.019","volume":"35","author":"G Ariceta","year":"2015","unstructured":"Ariceta G, Camacho JA, Fernandez-Obispo M, Fernandez-Polo A, Gamez J, Garcia-Villoria J, et al. Cystinosis in adult and adolescent patients: recommendations for the comprehensive care of cystinosis. Nefrologia. 2015;35(3):304\u201321.","journal-title":"Nefrologia"},{"key":"89_CR35","first-page":"1","volume":"6","author":"G Ariceta","year":"2016","unstructured":"Ariceta G, Antonio J, Fern\u00e1ndez-obispo M, Fern\u00e1ndez-polo A, G\u00e1mez J, Garc\u00eda-villoria J, et al. Special article: a coordinated transition model for patients with cystinosis: from paediatrics to adult care. Nefrologia. 2016;6:1\u201315.","journal-title":"Nefrologia"},{"key":"89_CR36","doi-asserted-by":"crossref","unstructured":"Liew G, Mitchell P, Wang JJ, Wong TY. Fundoscopy: to dilate or not to dilate? Vol. 332, BMJ (Clinical research ed.). England; 2006, p. 3.","DOI":"10.1136\/bmj.332.7532.3"},{"issue":"10","key":"89_CR37","doi-asserted-by":"crossref","first-page":"1329","DOI":"10.1001\/archopht.118.10.1329","volume":"118","author":"N Mungan","year":"2000","unstructured":"Mungan N, Nischal KK, Heon E, MacKeen L, Balfe JW, Levin AV. Ultrasound biomicroscopy of the eye in cystinosis. Arch Ophthalmol (Chicago, Ill 1960). 2000;118(10):1329\u201333.","journal-title":"Arch Ophthalmol (Chicago, Ill 1960)"},{"issue":"10","key":"89_CR38","doi-asserted-by":"crossref","first-page":"1921","DOI":"10.1007\/s00467-012-2209-6","volume":"27","author":"S Ajarmeh","year":"2012","unstructured":"Ajarmeh S, Er L, Brin G, Djurdjev O, Dionne JM. The effect of a multidisciplinary care clinic on the outcomes in pediatric chronic kidney disease. Pediatr Nephrol. 2012;27(10):1921\u20137.","journal-title":"Pediatr Nephrol"},{"issue":"7","key":"89_CR39","doi-asserted-by":"crossref","first-page":"1170","DOI":"10.2215\/CJN.05791108","volume":"4","author":"S Menon","year":"2009","unstructured":"Menon S, Valentini RP, Kapur G, Layfield S, Mattoo TK. Effectiveness of a multidisciplinary clinic in managing children with chronic kidney disease. Clin J Am Soc Nephrol. 2009;4(7):1170\u20135.","journal-title":"Clin J Am Soc Nephrol"},{"issue":"2","key":"89_CR40","doi-asserted-by":"crossref","first-page":"e0148096","DOI":"10.1371\/journal.pone.0148096","volume":"11","author":"C Ritchie","year":"2016","unstructured":"Ritchie C, Andersen R, Eng J, Garrigues SK, Intinarelli G, Kao H, et al. Implementation of an interdisciplinary, team-based complex care support health care model at an academic medical center: impact on health care utilization and quality of life. PLoS One. 2016;11(2):e0148096.","journal-title":"PLoS One"},{"issue":"3","key":"89_CR41","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1097\/MLR.0000000000000071","volume":"52","author":"HC Wijeysundera","year":"2014","unstructured":"Wijeysundera HC, Austin PC, Wang X, Bennell MC, Abrahamyan L, Ko DT, et al. The effect of multidisciplinary heart failure clinic characteristics on 1-year postdischarge health care costs: a population-based study. Med Care. 2014;52(3):272\u20139.","journal-title":"Med Care"}],"container-title":["Ophthalmology and Therapy"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s40123-017-0089-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,7,28]],"date-time":"2022-07-28T07:32:51Z","timestamp":1658993571000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s40123-017-0089-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,5,5]]},"references-count":41,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,6]]}},"alternative-id":["89"],"URL":"https:\/\/doi.org\/10.1007\/s40123-017-0089-3","relation":{},"ISSN":["2193-8245","2193-6528"],"issn-type":[{"value":"2193-8245","type":"print"},{"value":"2193-6528","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,5,5]]}}}