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Cataract 44(CTRCT44)

MedGen UID:
907487
Concept ID:
C4225300
Disease or Syndrome
Synonyms: CATARACT 44 AND HYPOTRICHOSIS; CTRCT44
 
Gene (location): LSS (21q22.3)
 
Monarch Initiative: MONDO:0014673
OMIM®: 616509

Definition

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LSS gene. [from MONDO]

Clinical features

From HPO
Developmental cataract
MedGen UID:
3202
Concept ID:
C0009691
Congenital Abnormality
A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.
Visual loss
MedGen UID:
784038
Concept ID:
C3665386
Finding
Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).

Professional guidelines

PubMed

Sumboonnanonda A, Chongchate N, Suntornpoch V, Pattaragarn A, Supavekin S
J Med Assoc Thai 2005 Nov;88 Suppl 8:S142-8. PMID: 16856434

Recent clinical studies

Etiology

Mi Y, Zhu Q, Zheng X, Wan M
Food Funct 2024 May 7;15(9):5147-5157. doi: 10.1039/d4fo01559b. PMID: 38682722
Vélasque L, Arbousoff N, Rigaudier F, Dominguez M, Fourmaux E, Rosier L, Seguy C
J Fr Ophtalmol 2021 Oct;44(8):1129-1141. Epub 2021 Jul 8 doi: 10.1016/j.jfo.2021.01.006. PMID: 34246497
Lambert SR, Cotsonis G, DuBois L, Nizam Ms A, Kruger SJ, Hartmann EE, Weakley DR Jr, Drews-Botsch C; Infant Aphakia Treatment Study Group
JAMA Ophthalmol 2020 Apr 1;138(4):365-372. doi: 10.1001/jamaophthalmol.2020.0006. PMID: 32077909Free PMC Article
Huang Q, Huang Y, Luo Q, Fan W
BMC Ophthalmol 2018 Apr 17;18(1):99. doi: 10.1186/s12886-018-0770-x. PMID: 29665792Free PMC Article
Russell B, Ward MA, Lynn M, Dubois L, Lambert SR; Infant Aphakia Treatment Study Group
Eye Contact Lens 2012 Jul;38(4):234-9. doi: 10.1097/ICL.0b013e3182562dc0. PMID: 22669008Free PMC Article

Diagnosis

Jaillard C, Sergent D
J Fr Ophtalmol 2021 Oct;44(8):1288. Epub 2021 Jul 16 doi: 10.1016/j.jfo.2020.12.027. PMID: 34275663
Taouri N, Amazouzi A, Boutimzine N, Cherkaoui W
J Fr Ophtalmol 2021 Jan;44(1):119-120. Epub 2020 Sep 17 doi: 10.1016/j.jfo.2020.01.035. PMID: 32950286
Jancevski M, Foster CS
Discov Med 2010 Jan;9(44):51-4. PMID: 20102686
Subramanian S, Gamanagatti S, Sinha A, Sampangi R
Indian Pediatr 2007 Dec;44(12):931-3. PMID: 18175850
Gross JG, Kokame GT, Weinberg DV; Dislocated In-The-Bag Intraocular Lens Study Group
Am J Ophthalmol 2004 Apr;137(4):630-5. doi: 10.1016/j.ajo.2003.10.037. PMID: 15059700

Therapy

Mi Y, Zhu Q, Zheng X, Wan M
Food Funct 2024 May 7;15(9):5147-5157. doi: 10.1039/d4fo01559b. PMID: 38682722
Taouri N, Amazouzi A, Boutimzine N, Cherkaoui W
J Fr Ophtalmol 2021 Jan;44(1):119-120. Epub 2020 Sep 17 doi: 10.1016/j.jfo.2020.01.035. PMID: 32950286
Lambert SR, Cotsonis G, DuBois L, Nizam Ms A, Kruger SJ, Hartmann EE, Weakley DR Jr, Drews-Botsch C; Infant Aphakia Treatment Study Group
JAMA Ophthalmol 2020 Apr 1;138(4):365-372. doi: 10.1001/jamaophthalmol.2020.0006. PMID: 32077909Free PMC Article
Rosen ES
Curr Opin Ophthalmol 1993 Feb;4(1):44-53. doi: 10.1097/00055735-199302000-00009. PMID: 10148291
Frandsen E
Acta Ophthalmol (Copenh) 1966;44(3):307-12. doi: 10.1111/j.1755-3768.1966.tb08035.x. PMID: 5953285

Prognosis

Hurley DJ, Murtagh P, Guerin M
Int Ophthalmol 2024 Mar 21;44(1):155. doi: 10.1007/s10792-024-03091-z. PMID: 38512501
Gupta A, Tejpal T, Ahmed IIK, Sharma RA
J Neuroophthalmol 2024 Mar 1;44(1):e207-e208. Epub 2023 May 31 doi: 10.1097/WNO.0000000000001888. PMID: 37256688
Wang Q, Zhang S, Wang Y, Zhao D, Zhou C
JMIR Public Health Surveill 2022 Nov 14;8(11):e39314. doi: 10.2196/39314. PMID: 36374533Free PMC Article
Lambert SR, Cotsonis G, DuBois L, Nizam Ms A, Kruger SJ, Hartmann EE, Weakley DR Jr, Drews-Botsch C; Infant Aphakia Treatment Study Group
JAMA Ophthalmol 2020 Apr 1;138(4):365-372. doi: 10.1001/jamaophthalmol.2020.0006. PMID: 32077909Free PMC Article
Prieto-Del-Cura M, González-Guijarro JJ
Eur J Ophthalmol 2020 Nov;30(6):1381-1389. Epub 2020 Jan 5 doi: 10.1177/1120672119899379. PMID: 31902244

Clinical prediction guides

Maroofian R, Kaiyrzhanov R, Cali E, Zamani M, Zaki MS, Ferla M, Tortora D, Sadeghian S, Saadi SM, Abdullah U, Karimiani EG, Efthymiou S, Yeşil G, Alavi S, Al Shamsi AM, Tajsharghi H, Abdel-Hamid MS, Saadi NW, Al Mutairi F, Alabdi L, Beetz C, Ali Z, Toosi MB, Rudnik-Schöneborn S, Babaei M, Isohanni P, Muhammad J, Khan S, Al Shalan M, Hickey SE, Marom D, Elhanan E, Kurian MA, Marafi D, Saberi A, Hamid M, Spaull R, Meng L, Lalani S, Maqbool S, Rahman F, Seeger J, Palculict TB, Lau T, Murphy D, Mencacci NE, Steindl K, Begemann A, Rauch A, Akbas S, Aslanger AD, Salpietro V, Yousaf H, Ben-Shachar S, Ejeskär K, Al Aqeel AI, High FA, Armstrong-Javors AE, Zahraei SM, Seifi T, Zeighami J, Shariati G, Sedaghat A, Asl SN, Shahrooei M, Zifarelli G, Burglen L, Ravelli C, Zschocke J, Schatz UA, Ghavideldarestani M, Kamel WA, Van Esch H, Hackenberg A, Taylor JC, Al-Gazali L, Bauer P, Gleeson JJ, Alkuraya FS, Lupski JR, Galehdari H, Azizimalamiri R, Chung WK, Baig SM, Houlden H, Severino M
Brain 2023 Dec 1;146(12):5031-5043. doi: 10.1093/brain/awad257. PMID: 37517035Free PMC Article
Wang Q, Zhang S, Wang Y, Zhao D, Zhou C
JMIR Public Health Surveill 2022 Nov 14;8(11):e39314. doi: 10.2196/39314. PMID: 36374533Free PMC Article
GBD 2019 Blindness and Vision Impairment Collaborators; Vision Loss Expert Group of the Global Burden of Disease Study
Lancet Glob Health 2021 Feb;9(2):e144-e160. Epub 2020 Dec 1 doi: 10.1016/S2214-109X(20)30489-7. PMID: 33275949Free PMC Article
Prieto-Del-Cura M, González-Guijarro JJ
Eur J Ophthalmol 2020 Nov;30(6):1381-1389. Epub 2020 Jan 5 doi: 10.1177/1120672119899379. PMID: 31902244
Vogelsang L, Gilad-Gutnick S, Ehrenberg E, Yonas A, Diamond S, Held R, Sinha P
Proc Natl Acad Sci U S A 2018 Oct 30;115(44):11333-11338. Epub 2018 Oct 15 doi: 10.1073/pnas.1800901115. PMID: 30322940Free PMC Article

Recent systematic reviews

Hurley DJ, Murtagh P, Guerin M
Int Ophthalmol 2024 Mar 21;44(1):155. doi: 10.1007/s10792-024-03091-z. PMID: 38512501
Gupta A, Tejpal T, Ahmed IIK, Sharma RA
J Neuroophthalmol 2024 Mar 1;44(1):e207-e208. Epub 2023 May 31 doi: 10.1097/WNO.0000000000001888. PMID: 37256688
de Muijnck C, Brink JBT, Bergen AA, Boon CJF, van Genderen MM
Surv Ophthalmol 2023 Jul-Aug;68(4):641-654. Epub 2023 Feb 9 doi: 10.1016/j.survophthal.2023.01.012. PMID: 36764396
GBD 2019 Blindness and Vision Impairment Collaborators; Vision Loss Expert Group of the Global Burden of Disease Study
Lancet Glob Health 2021 Feb;9(2):e144-e160. Epub 2020 Dec 1 doi: 10.1016/S2214-109X(20)30489-7. PMID: 33275949Free PMC Article
Galvis V, Tello A, Corrales MI
J Cataract Refract Surg 2016 Oct;42(10):1518-1526. doi: 10.1016/j.jcrs.2016.08.013. PMID: 27839608

Supplemental Content

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