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Corneal crystals

MedGen UID:
853135
Concept ID:
C1096610
Pathologic Function
Synonym: Crystalline corneal deposits
 
HPO: HP:0000531

Term Hierarchy

Conditions with this feature

Juvenile nephropathic cystinosis
MedGen UID:
75701
Concept ID:
C0268626
Congenital Abnormality
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.
Bietti crystalline corneoretinal dystrophy
MedGen UID:
347895
Concept ID:
C1859486
Disease or Syndrome
Bietti crystalline dystrophy (BCD) is a chorioretinal degeneration characterized by the presence of yellow-white crystals and/or complex lipid deposits in the retina and (to a variable degree) the cornea. Progressive atrophy and degeneration of the retinal pigment epithelium (RPE) / choroid lead to symptoms similar to those of other forms of retinal degeneration that fall under the category of retinitis pigmentosa and allied disorders, namely: reduced visual acuity, poor night vision, abnormal retinal electrophysiology, visual field loss, and often impaired color vision. Marked asymmetry between eyes is not uncommon. Onset is typically during the second to third decade of life, but ranges from the early teenage years to beyond the third decade. With time, loss of peripheral visual field, central acuity, or both result in legal blindness in most if not all affected individuals.
Ocular cystinosis
MedGen UID:
419313
Concept ID:
C2931013
Disease or Syndrome
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.
Nephropathic cystinosis
MedGen UID:
419735
Concept ID:
C2931187
Disease or Syndrome
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.

Professional guidelines

PubMed

Nowinska AK, Wylegala E, Teper S, Lyssek-Boron A, Aragona P, Roszkowska AM, Micali A, Pisani A, Puzzolo D
Cornea 2014 May;33(5):497-503. doi: 10.1097/ICO.0000000000000090. PMID: 24608252
Weiss JS, Khemichian AJ
Dev Ophthalmol 2011;48:67-96. Epub 2011 Apr 26 doi: 10.1159/000324078. PMID: 21540632
Gahl WA, Kuehl EM, Iwata F, Lindblad A, Kaiser-Kupfer MI
Mol Genet Metab 2000 Sep-Oct;71(1-2):100-20. doi: 10.1006/mgme.2000.3062. PMID: 11001803

Recent clinical studies

Etiology

Dai H, Zhang Y, Wu X, Li Y, Wang L, Li G
Graefes Arch Clin Exp Ophthalmol 2023 Jul;261(7):1941-1949. Epub 2023 Feb 14 doi: 10.1007/s00417-023-05987-5. PMID: 36786828
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
Weiss JS
Curr Opin Ophthalmol 2009 Jul;20(4):292-8. doi: 10.1097/ICU.0b013e32832b753e. PMID: 19398911
Gahl WA, Thoene JG, Schneider JA, O'Regan S, Kaiser-Kupfer MI, Kuwabara T
Ann Intern Med 1988 Oct 1;109(7):557-69. doi: 10.7326/0003-4819-109-7-557. PMID: 3048161

Diagnosis

Bhat A, Jhanji V
JAMA Ophthalmol 2020 May 1;138(5):580-581. doi: 10.1001/jamaophthalmol.2020.0128. PMID: 32134430
Weiss JS
Klin Monbl Augenheilkd 2016 Jun;233(6):708-12. Epub 2016 Jun 17 doi: 10.1055/s-0042-100735. PMID: 27315290
Weiss JS, Khemichian AJ
Dev Ophthalmol 2011;48:67-96. Epub 2011 Apr 26 doi: 10.1159/000324078. PMID: 21540632
Weiss JS
Curr Opin Ophthalmol 2009 Jul;20(4):292-8. doi: 10.1097/ICU.0b013e32832b753e. PMID: 19398911
Hayasaka S, Okuyama S
Retina 1984 Summer-Fall;4(3):177-81. doi: 10.1097/00006982-198400430-00009. PMID: 6494635

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
Bhat A, Jhanji V
JAMA Ophthalmol 2020 May 1;138(5):580-581. doi: 10.1001/jamaophthalmol.2020.0128. PMID: 32134430
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
Gahl WA, Kuehl EM, Iwata F, Lindblad A, Kaiser-Kupfer MI
Mol Genet Metab 2000 Sep-Oct;71(1-2):100-20. doi: 10.1006/mgme.2000.3062. PMID: 11001803
Gahl WA, Thoene JG, Schneider JA, O'Regan S, Kaiser-Kupfer MI, Kuwabara T
Ann Intern Med 1988 Oct 1;109(7):557-69. doi: 10.7326/0003-4819-109-7-557. PMID: 3048161

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
Weiss JS
Klin Monbl Augenheilkd 2016 Jun;233(6):708-12. Epub 2016 Jun 17 doi: 10.1055/s-0042-100735. PMID: 27315290
Weiss JS, Khemichian AJ
Dev Ophthalmol 2011;48:67-96. Epub 2011 Apr 26 doi: 10.1159/000324078. PMID: 21540632
Weiss JS
Curr Opin Ophthalmol 2009 Jul;20(4):292-8. doi: 10.1097/ICU.0b013e32832b753e. PMID: 19398911
Gahl WA, Kuehl EM, Iwata F, Lindblad A, Kaiser-Kupfer MI
Mol Genet Metab 2000 Sep-Oct;71(1-2):100-20. doi: 10.1006/mgme.2000.3062. PMID: 11001803

Clinical prediction guides

Dai H, Zhang Y, Wu X, Li Y, Wang L, Li G
Graefes Arch Clin Exp Ophthalmol 2023 Jul;261(7):1941-1949. Epub 2023 Feb 14 doi: 10.1007/s00417-023-05987-5. PMID: 36786828
Weiss JS
Klin Monbl Augenheilkd 2016 Jun;233(6):708-12. Epub 2016 Jun 17 doi: 10.1055/s-0042-100735. PMID: 27315290
Weiss JS, Khemichian AJ
Dev Ophthalmol 2011;48:67-96. Epub 2011 Apr 26 doi: 10.1159/000324078. PMID: 21540632
Weiss JS
Curr Opin Ophthalmol 2009 Jul;20(4):292-8. doi: 10.1097/ICU.0b013e32832b753e. PMID: 19398911
Gahl WA, Kuehl EM, Iwata F, Lindblad A, Kaiser-Kupfer MI
Mol Genet Metab 2000 Sep-Oct;71(1-2):100-20. doi: 10.1006/mgme.2000.3062. PMID: 11001803

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