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Chromosomal anomaly with cataract

MedGen UID:
831905
•Concept ID:
CN227830
•
Finding
Orphanet: ORPHA98642

Professional guidelines

PubMed

Clinical characteristics and ophthalmic management of a rare disease cohort of patients with trisomy 13.
Varrone E, Lenhart P, Rao P, Weil N
J AAPOS 2022 Aug;26(4):207-210. Epub 2022 Jun 11 doi: 10.1016/j.jaapos.2022.04.003. PMID: 35697318
Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management.
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
Primary care of infants and young children with Down syndrome.
Saenz RB
Am Fam Physician 1999 Jan 15;59(2):381-90, 392, 395-6. PMID: 9930130

Recent clinical studies

Etiology

Immediate sequential bilateral cataract surgery in adults with Down's syndrome.
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
Ocular coloboma-a comprehensive review for the clinician.
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
Vici syndrome: a review.
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
Health and disease in adults with Down syndrome.
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
Aniridia. A review.
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

Down syndrome and the eye: Ocular characteristics and ocular assessment.
Mathan JJ, Simkin SK, Gokul A, McGhee CNJ
Surv Ophthalmol 2022 Nov-Dec;67(6):1631-1646. Epub 2022 Apr 1 doi: 10.1016/j.survophthal.2022.03.006. PMID: 35367480
Review Recent progress in identification and characterization of loci associated with sex-linked congenital cataract.
Zhang DD, Du JZ, Topolewski J, Wang XM
Genet Mol Res 2016 Jul 29;15(3) doi: 10.4238/gmr.15038600. PMID: 27525896
The oculocerebrorenal syndrome of Lowe: an update.
Bökenkamp A, Ludwig M
Pediatr Nephrol 2016 Dec;31(12):2201-2212. Epub 2016 Mar 24 doi: 10.1007/s00467-016-3343-3. PMID: 27011217Free PMC Article
Vici syndrome: a review.
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
Neurofibromatosis type 2.
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

Therapy

Immediate sequential bilateral cataract surgery in adults with Down's syndrome.
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
Disorders of the eye, ear, skin, and nervous system in women with Turner syndrome -a nationwide cohort study.
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
Eltrombopag Therapy in Children With Rare Disorders Associated With Thrombocytopenia.
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
Adult-onset Buphthalmos in Down Syndrome.
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
Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management.
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

Hypoparathyroidism and late-onset hypogonadism in an adult male with familial 22q11.2 deletion syndrome: a case report with 3-year follow-up and review of the literature.
Chen X, Yang L, Li J, Tan H
BMC Endocr Disord 2022 Nov 12;22(1):278. doi: 10.1186/s12902-022-01150-z. PMID: 36371175Free PMC Article
Clinical and therapeutic particularities of congenital cataracts in pediatric patients with Down syndrome.
Tătaru CI, Voinea LM, Tătaru CP, Sima G
Rom J Ophthalmol 2020 Apr-Jun;64(2):168-175. PMID: 32685783Free PMC Article
Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management.
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
Neurofibromatosis type 2.
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
Primary care of infants and young children with Down syndrome.
Saenz RB
Am Fam Physician 1999 Jan 15;59(2):381-90, 392, 395-6. PMID: 9930130

Clinical prediction guides

Associated congenital anomalies among cases with Down syndrome.
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
Down's syndrome and early cataract.
Haargaard B, Fledelius HC
Br J Ophthalmol 2006 Aug;90(8):1024-7. Epub 2006 May 3 doi: 10.1136/bjo.2006.090639. PMID: 16672328Free PMC Article
Hereditary hyperferritinemia-cataract syndrome: prevalence, lens morphology, spectrum of mutations, and clinical presentations.
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
Familial keratoconus with cataract: linkage to the long arm of chromosome 15 and exclusion of candidate genes.
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
Clinical aspects of Down syndrome from infancy to adulthood.
Pueschel SM
Am J Med Genet Suppl 1990;7:52-6. doi: 10.1002/ajmg.1320370708. PMID: 2149974

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