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Ocular cystine crystal deposition

MedGen UID:
1054823
•Concept ID:
CN378307
•
Finding
HPO: HP:6000955

Definition

Accumulation of cystine crsytals in the eye. Patients present with crystal accumulation affecting the cornea and conjunctiva, but crystals can also be deposited in the iris, ciliary body, choroid and retinal pigment epithelium (RPE), and lens capsule. Corneal crystal deposition starts in infancy in the anterior periphery of the cornea, and progresses centrally and posteriorly. The crystals, which have a fine, uniform needle-shaped structure, are diffusely distributed within the corneal tissues. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOcular cystine crystal deposition

Professional guidelines

PubMed

Preformulation of cysteamine gels for treatment of the ophthalmic complications in cystinosis.
McKenzie B, Kay G, Matthews KH, Knott R, Cairns D
Int J Pharm 2016 Dec 30;515(1-2):575-582. Epub 2016 Oct 19 doi: 10.1016/j.ijpharm.2016.10.044. PMID: 27771488

Recent clinical studies

Etiology

Comparison of Scheimpflug Corneal Tomography and Anterior Segment Optical Coherence Tomography Measurements in Corneal Cystinosis: A Case Series.
Vercauteren L, Consejo A, De Vries MJ, Krolo I, Koppen C, Ní Dhubhghaill S
Eye Contact Lens 2024 Jul 1;50(7):321-328. Epub 2024 Apr 17 doi: 10.1097/ICL.0000000000001087. PMID: 38630953
Spectral domain optical coherence tomography-based retinochoroidal cystine crystal score: a window into infantile nephropathic cystinosis.
Keidel L, Hohenfellner K, Schworm B, Priglinger S, Luft N, Priglinger C
Br J Ophthalmol 2023 Feb;107(2):234-241. Epub 2021 Sep 16 doi: 10.1136/bjophthalmol-2021-319612. PMID: 34531199Free PMC Article
Establishing an objective biomarker for corneal cystinosis using a threshold-based Spectral domain optical coherence tomography imaging algorithm.
Keidel L, Elhardt C, Hohenfellner K, Priglinger S, Schworm B, Wertheimer C, Priglinger C, Luft N
Acta Ophthalmol 2021 Mar;99(2):e189-e195. Epub 2020 Aug 24 doi: 10.1111/aos.14569. PMID: 32833325
Ocular manifestations of intermediate cystinosis: To treat or not to treat?
Sousa-Neves F, Ribeiro AC, Saraiva E, Ribeiro L, Sequeira J, Varandas R
Eur J Ophthalmol 2020 Nov;30(6):NP7-NP10. Epub 2019 May 10 doi: 10.1177/1120672119848899. PMID: 31074291
Ocular manifestations in adolescent cystinosis: case report in Thailand.
Kitnarong N, Osuwannaratana P, Kamchaisatian W, Namtongthai P, Metheetrairut A
J Med Assoc Thai 2005 Apr;88(4):521-6. PMID: 16146258

Diagnosis

Spectral domain optical coherence tomography-based retinochoroidal cystine crystal score: a window into infantile nephropathic cystinosis.
Keidel L, Hohenfellner K, Schworm B, Priglinger S, Luft N, Priglinger C
Br J Ophthalmol 2023 Feb;107(2):234-241. Epub 2021 Sep 16 doi: 10.1136/bjophthalmol-2021-319612. PMID: 34531199Free PMC Article
Establishing an objective biomarker for corneal cystinosis using a threshold-based Spectral domain optical coherence tomography imaging algorithm.
Keidel L, Elhardt C, Hohenfellner K, Priglinger S, Schworm B, Wertheimer C, Priglinger C, Luft N
Acta Ophthalmol 2021 Mar;99(2):e189-e195. Epub 2020 Aug 24 doi: 10.1111/aos.14569. PMID: 32833325
A case of ocular cystinosis associated with two potentially severe CTNS mutations.
Browning AC, Figueiredo GS, Baylis O, Montgomery E, Beesley C, Molinari E, Figueiredo FC, Sayer JA
Ophthalmic Genet 2019 Apr;40(2):157-160. Epub 2019 Apr 6 doi: 10.1080/13816810.2019.1592198. PMID: 30957593
Ocular changes in nephropathic cystinosis: The course of the gold-dust.
Flockerzi E, Daas L, Schlötzer-Schrehardt U, Zimpfer A, Bohle R, Seitz B
Int Ophthalmol 2019 Jun;39(6):1413-1418. Epub 2018 Jun 18 doi: 10.1007/s10792-018-0954-7. PMID: 29916124
Optical diagnosis of a metabolic disease: cystinosis.
Cinotti E, Perrot JL, Labeille B, Espinasse M, Ouerdane Y, Boukenter A, Thuret G, Gain P, Campolmi N, Douchet C, Cambazard F
J Biomed Opt 2013 Apr;18(4):046013. doi: 10.1117/1.JBO.18.4.046013. PMID: 23612886

Therapy

Examination of corneal deposits in nephropathic cystinosis using in vivo confocal microscopy and anterior segment optical coherence tomography: an age-dependent cross sectional study.
Csorba A, Maka E, Maneschg OA, Szabó A, Szentmáry N, Csidey M, Resch M, Imre L, Knézy K, Nagy ZZ
BMC Ophthalmol 2020 Feb 26;20(1):73. doi: 10.1186/s12886-020-01336-w. PMID: 32102651Free PMC Article
Ocular manifestations of intermediate cystinosis: To treat or not to treat?
Sousa-Neves F, Ribeiro AC, Saraiva E, Ribeiro L, Sequeira J, Varandas R
Eur J Ophthalmol 2020 Nov;30(6):NP7-NP10. Epub 2019 May 10 doi: 10.1177/1120672119848899. PMID: 31074291
Ocular changes in nephropathic cystinosis: The course of the gold-dust.
Flockerzi E, Daas L, Schlötzer-Schrehardt U, Zimpfer A, Bohle R, Seitz B
Int Ophthalmol 2019 Jun;39(6):1413-1418. Epub 2018 Jun 18 doi: 10.1007/s10792-018-0954-7. PMID: 29916124
A case of intracranial hypertension and papilledema associated with nephropathic cystinosis and ocular involvement.
Parnes A, Wassner SJ, Weinstein JM
Binocul Vis Strabismus Q 2008;23(1):37-40. PMID: 18393938

Prognosis

Comparison of Scheimpflug Corneal Tomography and Anterior Segment Optical Coherence Tomography Measurements in Corneal Cystinosis: A Case Series.
Vercauteren L, Consejo A, De Vries MJ, Krolo I, Koppen C, Ní Dhubhghaill S
Eye Contact Lens 2024 Jul 1;50(7):321-328. Epub 2024 Apr 17 doi: 10.1097/ICL.0000000000001087. PMID: 38630953
Establishing an objective biomarker for corneal cystinosis using a threshold-based Spectral domain optical coherence tomography imaging algorithm.
Keidel L, Elhardt C, Hohenfellner K, Priglinger S, Schworm B, Wertheimer C, Priglinger C, Luft N
Acta Ophthalmol 2021 Mar;99(2):e189-e195. Epub 2020 Aug 24 doi: 10.1111/aos.14569. PMID: 32833325
Ocular manifestations of intermediate cystinosis: To treat or not to treat?
Sousa-Neves F, Ribeiro AC, Saraiva E, Ribeiro L, Sequeira J, Varandas R
Eur J Ophthalmol 2020 Nov;30(6):NP7-NP10. Epub 2019 May 10 doi: 10.1177/1120672119848899. PMID: 31074291
A case of ocular cystinosis associated with two potentially severe CTNS mutations.
Browning AC, Figueiredo GS, Baylis O, Montgomery E, Beesley C, Molinari E, Figueiredo FC, Sayer JA
Ophthalmic Genet 2019 Apr;40(2):157-160. Epub 2019 Apr 6 doi: 10.1080/13816810.2019.1592198. PMID: 30957593
Ocular changes in nephropathic cystinosis: The course of the gold-dust.
Flockerzi E, Daas L, Schlötzer-Schrehardt U, Zimpfer A, Bohle R, Seitz B
Int Ophthalmol 2019 Jun;39(6):1413-1418. Epub 2018 Jun 18 doi: 10.1007/s10792-018-0954-7. PMID: 29916124

Clinical prediction guides

Spectral domain optical coherence tomography-based retinochoroidal cystine crystal score: a window into infantile nephropathic cystinosis.
Keidel L, Hohenfellner K, Schworm B, Priglinger S, Luft N, Priglinger C
Br J Ophthalmol 2023 Feb;107(2):234-241. Epub 2021 Sep 16 doi: 10.1136/bjophthalmol-2021-319612. PMID: 34531199Free PMC Article
Establishing an objective biomarker for corneal cystinosis using a threshold-based Spectral domain optical coherence tomography imaging algorithm.
Keidel L, Elhardt C, Hohenfellner K, Priglinger S, Schworm B, Wertheimer C, Priglinger C, Luft N
Acta Ophthalmol 2021 Mar;99(2):e189-e195. Epub 2020 Aug 24 doi: 10.1111/aos.14569. PMID: 32833325
Examination of corneal deposits in nephropathic cystinosis using in vivo confocal microscopy and anterior segment optical coherence tomography: an age-dependent cross sectional study.
Csorba A, Maka E, Maneschg OA, Szabó A, Szentmáry N, Csidey M, Resch M, Imre L, Knézy K, Nagy ZZ
BMC Ophthalmol 2020 Feb 26;20(1):73. doi: 10.1186/s12886-020-01336-w. PMID: 32102651Free PMC Article
A case of ocular cystinosis associated with two potentially severe CTNS mutations.
Browning AC, Figueiredo GS, Baylis O, Montgomery E, Beesley C, Molinari E, Figueiredo FC, Sayer JA
Ophthalmic Genet 2019 Apr;40(2):157-160. Epub 2019 Apr 6 doi: 10.1080/13816810.2019.1592198. PMID: 30957593
Ocular findings in several metabolic diseases.
Wilson WA
Calif Med 1969 Dec;111(6):446-9. PMID: 5358977Free PMC Article

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