U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Chromosomal anomaly with cataract

MedGen UID:
1843065
Concept ID:
C5681669
Congenital Abnormality
Orphanet: ORPHA98642

Professional guidelines

PubMed

Nie S, Chen G, Cao X, Zhang Y
Orphanet J Rare Dis 2014 Nov 26;9:179. doi: 10.1186/s13023-014-0179-4. PMID: 25424010Free PMC Article
Lee H, Khan R, O'Keefe M
Acta Ophthalmol 2008 Nov;86(7):708-15. Epub 2008 Oct 6 doi: 10.1111/j.1755-3768.2008.01427.x. PMID: 18937825
Saenz RB
Am Fam Physician 1999 Jan 15;59(2):381-90, 392, 395-6. PMID: 9930130

Recent clinical studies

Etiology

Escribano Lopez P, Porto Castro S, Garrido Ceca G
Int Ophthalmol 2022 Oct;42(10):2997-3004. Epub 2022 Mar 30 doi: 10.1007/s10792-022-02285-7. PMID: 35355167
Lingam G, Sen AC, Lingam V, Bhende M, Padhi TR, Xinyi S
Eye (Lond) 2021 Aug;35(8):2086-2109. Epub 2021 Mar 21 doi: 10.1038/s41433-021-01501-5. PMID: 33746210Free PMC Article
Byrne S, Dionisi-Vici C, Smith L, Gautel M, Jungbluth H
Orphanet J Rare Dis 2016 Feb 29;11:21. doi: 10.1186/s13023-016-0399-x. PMID: 26927810Free PMC Article
Malt EA, Dahl RC, Haugsand TM, Ulvestad IH, Emilsen NM, Hansen B, Cardenas YE, Skøld RO, Thorsen AT, Davidsen EM
Tidsskr Nor Laegeforen 2013 Feb 5;133(3):290-4. doi: 10.4045/tidsskr.12.0390. PMID: 23381164
Nelson LB, Spaeth GL, Nowinski TS, Margo CE, Jackson L
Surv Ophthalmol 1984 May-Jun;28(6):621-42. doi: 10.1016/0039-6257(84)90184-x. PMID: 6330922

Diagnosis

Byrne S, Dionisi-Vici C, Smith L, Gautel M, Jungbluth H
Orphanet J Rare Dis 2016 Feb 29;11:21. doi: 10.1186/s13023-016-0399-x. PMID: 26927810Free PMC Article
Asthagiri AR, Parry DM, Butman JA, Kim HJ, Tsilou ET, Zhuang Z, Lonser RR
Lancet 2009 Jun 6;373(9679):1974-86. Epub 2009 May 22 doi: 10.1016/S0140-6736(09)60259-2. PMID: 19476995Free PMC Article
Libov AJ, Maino DM
J Am Optom Assoc 1994 May;65(5):355-9. PMID: 8071507
van Hellenberg Hubar JL, Joosten EM, Wevers RA
Clin Neurol Neurosurg 1992;94 Suppl:S165-7. doi: 10.1016/0303-8467(92)90059-c. PMID: 1320501
Nelson LB, Spaeth GL, Nowinski TS, Margo CE, Jackson L
Surv Ophthalmol 1984 May-Jun;28(6):621-42. doi: 10.1016/0039-6257(84)90184-x. PMID: 6330922

Therapy

Escribano Lopez P, Porto Castro S, Garrido Ceca G
Int Ophthalmol 2022 Oct;42(10):2997-3004. Epub 2022 Mar 30 doi: 10.1007/s10792-022-02285-7. PMID: 35355167
Viuff MH, Stochholm K, Juul S, Gravholt CH
Eur J Hum Genet 2022 Feb;30(2):229-236. Epub 2021 Oct 28 doi: 10.1038/s41431-021-00989-5. PMID: 34707298Free PMC Article
Frączkiewicz J, Sęga-Pondel D, Kazanowska B, Ussowicz M
J Pediatr Hematol Oncol 2020 Mar;42(2):113-117. doi: 10.1097/MPH.0000000000001528. PMID: 31205222
Faria-E-Sousa SJ, Marques AG, Vieira J, Antunes-Foschini R
J Glaucoma 2019 Feb;28(2):e27-e28. doi: 10.1097/IJG.0000000000001127. PMID: 30461549
Nie S, Chen G, Cao X, Zhang Y
Orphanet J Rare Dis 2014 Nov 26;9:179. doi: 10.1186/s13023-014-0179-4. PMID: 25424010Free PMC Article

Prognosis

Viuff MH, Stochholm K, Juul S, Gravholt CH
Eur J Hum Genet 2022 Feb;30(2):229-236. Epub 2021 Oct 28 doi: 10.1038/s41431-021-00989-5. PMID: 34707298Free PMC Article
Tătaru CI, Voinea LM, Tătaru CP, Sima G
Rom J Ophthalmol 2020 Apr-Jun;64(2):168-175. PMID: 32685783Free PMC Article
Nie S, Chen G, Cao X, Zhang Y
Orphanet J Rare Dis 2014 Nov 26;9:179. doi: 10.1186/s13023-014-0179-4. PMID: 25424010Free PMC Article
Asthagiri AR, Parry DM, Butman JA, Kim HJ, Tsilou ET, Zhuang Z, Lonser RR
Lancet 2009 Jun 6;373(9679):1974-86. Epub 2009 May 22 doi: 10.1016/S0140-6736(09)60259-2. PMID: 19476995Free PMC Article
Saenz RB
Am Fam Physician 1999 Jan 15;59(2):381-90, 392, 395-6. PMID: 9930130

Clinical prediction guides

Stoll C, Dott B, Alembik Y, Roth MP
Eur J Med Genet 2015 Dec;58(12):674-80. Epub 2015 Nov 11 doi: 10.1016/j.ejmg.2015.11.003. PMID: 26578241
Craig JE, Clark JB, McLeod JL, Kirkland MA, Grant G, Elder JE, Toohey MG, Kowal L, Savoia HF, Chen C, Roberts S, Wirth MG, Mackey DA
Arch Ophthalmol 2003 Dec;121(12):1753-61. doi: 10.1001/archopht.121.12.1753. PMID: 14662596
Hughes AE, Dash DP, Jackson AJ, Frazer DG, Silvestri G
Invest Ophthalmol Vis Sci 2003 Dec;44(12):5063-6. doi: 10.1167/iovs.03-0399. PMID: 14638698
Maffei P, Munno V, Marshall JD, Scandellari C, Sicolo N
Ann Ital Med Int 2002 Oct-Dec;17(4):221-8. PMID: 12532560
Pueschel SM
Am J Med Genet Suppl 1990;7:52-6. doi: 10.1002/ajmg.1320370708. PMID: 2149974

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...