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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).
 
Gene (location): CTNS (17p13.2)
 
Monarch Initiative: MONDO:0009064
OMIM®: 219750
Orphanet: ORPHA411641

Disease characteristics

Excerpted from the GeneReview: Cystinosis
Cystinosis comprises three allelic phenotypes: Nephropathic cystinosis in untreated children is characterized by renal Fanconi syndrome, poor growth, hypophosphatemic/calcipenic rickets, impaired glomerular function resulting in complete glomerular failure, and accumulation of cystine in almost all cells, leading to cellular dysfunction with tissue and organ impairment. The typical untreated child has short stature, rickets, and photophobia. Failure to thrive is generally noticed after approximately age six months; signs of renal tubular Fanconi syndrome (polyuria, polydipsia, dehydration, and acidosis) appear as early as age six months; corneal crystals can be present before age one year and are always present after age 16 months. Prior to the use of renal transplantation and cystine-depleting therapy, the life span in nephropathic cystinosis was no longer than ten years. With these interventions, affected individuals can survive at least into the mid-forties or fifties with satisfactory quality of life. Intermediate cystinosis is characterized by all the typical manifestations of nephropathic cystinosis, but onset is at a later age. Renal glomerular failure occurs in all untreated affected individuals, usually between ages 15 and 25 years. The non-nephropathic (ocular) form of cystinosis is characterized clinically only by photophobia resulting from corneal cystine crystal accumulation. [from GeneReviews]
Authors:
Galina Nesterova  |  William A Gahl   view full author information

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.
Elevated circulating creatinine concentration
MedGen UID:
148579
Concept ID:
C0700225
Finding
An increased amount of creatinine in the blood.
Abnormal retinal morphology
MedGen UID:
472885
Concept ID:
C0035300
Finding
A structural abnormality of the retina.
Corneal crystals
MedGen UID:
853135
Concept ID:
C1096610
Pathologic Function
Elevated leukocyte cystine
MedGen UID:
1709721
Concept ID:
C5397656
Finding
An increased concentration of cystine within white blood cells.

Professional guidelines

PubMed

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

Recent clinical studies

Etiology

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
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: 35125035Free PMC Article
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
Naik MP, Sethi HS, Dabas S
Indian J Ophthalmol 2019 Jul;67(7):1158-1159. doi: 10.4103/ijo.IJO_1467_18. PMID: 31238435Free PMC Article
Phornphutkul C, Anikster Y, Huizing M, Braun P, Brodie C, Chou JY, Gahl WA
Am J Hum Genet 2001 Oct;69(4):712-21. Epub 2001 Aug 14 doi: 10.1086/323484. PMID: 11505338Free PMC Article

Diagnosis

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: 36674769Free PMC Article
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
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: 35125035Free PMC Article
Naik MP, Sethi HS, Dabas S
Indian J Ophthalmol 2019 Jul;67(7):1158-1159. doi: 10.4103/ijo.IJO_1467_18. PMID: 31238435Free PMC Article
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

Therapy

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: 37355021Free PMC Article
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: 35125035Free PMC Article
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
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

Prognosis

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

Clinical prediction guides

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: 36674769Free PMC Article
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
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: 35524314Free PMC Article
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: 35125035Free PMC Article
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

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