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Ocular cystinosis

MedGen UID:: 419313
•Concept ID:: C2931013
•: Disease or Syndrome

Synonyms:	Cystinosis, adult, nonnephropathic; Cystinosis, benign, nonnephropathic; Cystinosis, ocular nonnephropathic; Non-Nephropathic Cystinosis
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	CTNS (17p13.2)

Monarch Initiative:	MONDO:0009064
OMIM®:	219750
Orphanet:	ORPHA411641

Authors:

Additional description

From OMIM
Ocular nonnephropathic cystinosis, a variant of the classic nephropathic type of cystinosis (219800), is an autosomal recessive lysosomal storage disorder characterized by photophobia due to corneal cystine crystals but absence of renal disease (summary by Anikster et al., 2000). http://www.omim.org/entry/219750

Clinical features

From HPO

Photophobia

MedGen UID:: 43220
•Concept ID:: C0085636
•: Sign or Symptom

Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.

See: Feature record | Search on this feature

Elevated circulating creatinine concentration

MedGen UID:: 148579
•Concept ID:: C0700225
•: Finding

An increased amount of creatinine in the blood.

See: Feature record | Search on this feature

Abnormal retinal morphology

MedGen UID:: 472885
•Concept ID:: C0035300
•: Finding

A structural abnormality of the retina.

See: Feature record | Search on this feature

Corneal crystals

MedGen UID:: 853135
•Concept ID:: C1096610
•: Pathologic Function

See: Feature record | Search on this feature

Elevated leukocyte cystine

MedGen UID:: 1709721
•Concept ID:: C5397656
•: Finding

An increased concentration of cystine within white blood cells.

See: Feature record | Search on this feature

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Abnormal cellular phenotype
- Elevated leukocyte cystine
Abnormality of metabolism/homeostasis
- Elevated circulating creatinine concentration
Abnormality of the eye
- Abnormal retinal morphology
- Corneal crystals
Abnormality of the nervous system
- Photophobia

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCystinosis
- CROGVNephropathic cystinosis
  - CROGVInfantile nephropathic cystinosis
  - CROGVJuvenile nephropathic cystinosis
- CROGVOcular cystinosis

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Hereditary disease
      - Cystinosis
        Ocular cystinosis

Professional guidelines

PubMed

Gold nanoparticle synthesis in contact lenses for drug-less ocular cystinosis treatment.

Liu Z, Kompella UB, Chauhan A
Eur J Pharm Biopharm 2021 Aug;165:271-278. Epub 2021 May 24 doi: 10.1016/j.ejpb.2021.05.019. PMID: 34044109

See all (1)

Recent clinical studies

Etiology

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: 34531199 Free PMC Article

Analysis of tear film in cystinosis patients treated with topical viscous cysteamine hydrochloride (Cystadrops(®)).

Sergio P, Giancarlo I, Matteo F, Maria SC, Gianni P, Parrilla R, Valente P, Luca B
Eur J Ophthalmol 2022 Nov;32(6):3358-3362. Epub 2022 Feb 7 doi: 10.1177/11206721221078649. PMID: 35125035 Free 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 cystinosis: Rarity redefined.

Naik MP, Sethi HS, Dabas S
Indian J Ophthalmol 2019 Jul;67(7):1158-1159. doi: 10.4103/ijo.IJO_1467_18. PMID: 31238435 Free PMC Article

CTNS mutations in African American patients with cystinosis.

Kleta R, Anikster Y, Lucero C, Shotelersuk V, Huizing M, Bernardini I, Park M, Thoene J, Schneider J, Gahl WA
Mol Genet Metab 2001 Nov;74(3):332-7. doi: 10.1006/mgme.2001.3218. PMID: 11708862

See all (6)

Diagnosis

The Pitfall of White Blood Cell Cystine Measurement to Diagnose Juvenile Cystinosis.

Bondue T, Kouraich A, Berlingerio SP, Veys K, Marie S, Alsaad KO, Al-Sabban E, Levtchenko E, van den Heuvel L
Int J Mol Sci 2023 Jan 9;24(2) doi: 10.3390/ijms24021253. PMID: 36674769 Free PMC Article

Importance of adherence to topical cysteamine in infantile ocular cystinosis: An illustrative case.

Bayram-Suverza M, Virgen-Batista MI, Vázquez-Lara Y
Indian J Ophthalmol 2022 Jul;70(7):2636-2638. doi: 10.4103/ijo.IJO_2418_21. PMID: 35791182 Free PMC Article

Analysis of tear film in cystinosis patients treated with topical viscous cysteamine hydrochloride (Cystadrops(®)).

Ocular cystinosis: Rarity redefined.

Naik MP, Sethi HS, Dabas S
Indian J Ophthalmol 2019 Jul;67(7):1158-1159. doi: 10.4103/ijo.IJO_1467_18. PMID: 31238435 Free PMC Article

A case of corneal cystinosis in a patient with rickets and chronic renal failure.

Won JY, Hwang HB, Chung SK
Indian J Ophthalmol 2015 Oct;63(10):785-7. doi: 10.4103/0301-4738.171509. PMID: 26655004 Free PMC Article

See all (12)

Therapy

The gene therapy for corneal pathology with novel nonsense cystinosis mouse lines created by CRISPR Gene Editing.

Dong F, Amlal H, Venkatakrishnan J, Zhang J, Fry M, Yuan Y, Cheng YC, Hu YC, Kao WW
Ocul Surf 2023 Jul;29:432-443. Epub 2023 Jun 23 doi: 10.1016/j.jtos.2023.06.002. PMID: 37355021 Free PMC Article

Analysis of tear film in cystinosis patients treated with topical viscous cysteamine hydrochloride (Cystadrops(®)).

Gold nanoparticle synthesis in contact lenses for drug-less ocular cystinosis treatment.

Liu Z, Kompella UB, Chauhan A
Eur J Pharm Biopharm 2021 Aug;165:271-278. Epub 2021 May 24 doi: 10.1016/j.ejpb.2021.05.019. PMID: 34044109

Copper deficiency in patients with cystinosis with cysteamine toxicity.

Besouw MT, Schneider J, Janssen MC, Greco M, Emma F, Cornelissen EA, Desmet K, Skovby F, Nobili F, Lilien MR, De Paepe A, Malfait F, Symoens S, van den Heuvel LP, Levtchenko EN
J Pediatr 2013 Sep;163(3):754-60. Epub 2013 May 4 doi: 10.1016/j.jpeds.2013.03.078. PMID: 23651769

See all (4)

Prognosis

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 cystinosis: Rarity redefined.

Naik MP, Sethi HS, Dabas S
Indian J Ophthalmol 2019 Jul;67(7):1158-1159. doi: 10.4103/ijo.IJO_1467_18. PMID: 31238435 Free 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

Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin.

Kalatzis V, Nevo N, Cherqui S, Gasnier B, Antignac C
Hum Mol Genet 2004 Jul 1;13(13):1361-71. Epub 2004 May 5 doi: 10.1093/hmg/ddh152. PMID: 15128704

See all (4)

Clinical prediction guides

The Pitfall of White Blood Cell Cystine Measurement to Diagnose Juvenile Cystinosis.

Bondue T, Kouraich A, Berlingerio SP, Veys K, Marie S, Alsaad KO, Al-Sabban E, Levtchenko E, van den Heuvel L
Int J Mol Sci 2023 Jan 9;24(2) doi: 10.3390/ijms24021253. PMID: 36674769 Free PMC Article

Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis.

Chkioua L, Amri Y, Saheli C, Mili W, Mabrouk S, Chabchoub I, Boudabous H, Azzouz WB, Turkia HB, Ferchichi S, Tebib N, Massoud T, Ghorbel M, Laradi S
Diagn Pathol 2022 May 6;17(1):44. doi: 10.1186/s13000-022-01221-8. PMID: 35524314 Free PMC Article

Analysis of tear film in cystinosis patients treated with topical viscous cysteamine hydrochloride (Cystadrops(®)).

A case of ocular cystinosis associated with two potentially severe CTNS mutations.

A case of corneal cystinosis in a patient with rickets and chronic renal failure.

Won JY, Hwang HB, Chung SK
Indian J Ophthalmol 2015 Oct;63(10):785-7. doi: 10.4103/0301-4738.171509. PMID: 26655004 Free PMC Article

See all (8)

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Ocular cystinosis

Additional description

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

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