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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

Chatterjee S, Agrawal D, Agrawal D, Parchand SM, Sahu A
Indian J Ophthalmol 2021 Jul;69(7):1753-1757. doi: 10.4103/ijo.IJO_2916_20. PMID: 34146021Free PMC Article
Li X, Si N, Song Z, Ren Y, Xiao W
Orphanet J Rare Dis 2021 May 31;16(1):242. doi: 10.1186/s13023-021-01873-7. PMID: 34059112Free 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
Al-Hashimi S, Donaldson K, Davidson R, Dhaliwal D, Jackson M, Kieval JZ, Patterson L, Stonecipher K, Hamilton DR; ASCRS Refractive Cataract Surgery Subcommittee
J Cataract Refract Surg 2018 Aug;44(8):1032-1041. Epub 2018 Jul 19 doi: 10.1016/j.jcrs.2018.02.027. PMID: 30033113
Song P, Wang H, Theodoratou E, Chan KY, Rudan I
J Glob Health 2018 Jun;8(1):010804. doi: 10.7189/jogh.08.010804. PMID: 29977532Free PMC Article

Diagnosis

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
Li X, Si N, Song Z, Ren Y, Xiao W
Orphanet J Rare Dis 2021 May 31;16(1):242. doi: 10.1186/s13023-021-01873-7. PMID: 34059112Free PMC Article
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
Kirwan C, O'Keefe M
Acta Ophthalmol Scand 2006 Dec;84(6):734-9. doi: 10.1111/j.1600-0420.2006.00733.x. PMID: 17083529

Therapy

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
Al-Hashimi S, Donaldson K, Davidson R, Dhaliwal D, Jackson M, Kieval JZ, Patterson L, Stonecipher K, Hamilton DR; ASCRS Refractive Cataract Surgery Subcommittee
J Cataract Refract Surg 2018 Aug;44(8):1032-1041. Epub 2018 Jul 19 doi: 10.1016/j.jcrs.2018.02.027. PMID: 30033113
Song P, Wang H, Theodoratou E, Chan KY, Rudan I
J Glob Health 2018 Jun;8(1):010804. doi: 10.7189/jogh.08.010804. PMID: 29977532Free PMC Article
Meisler DM, Langston RH, Naab TJ, Aaby AA, McMahon JT, Tubbs RR
Am J Ophthalmol 1984 Mar;97(3):337-43. doi: 10.1016/0002-9394(84)90633-0. PMID: 6702972

Prognosis

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
Gedde SJ, Feuer WJ, Lim KS, Barton K, Goyal S, Ahmed II, Brandt JD; Primary Tube Versus Trabeculectomy Study Group
Ophthalmology 2022 Dec;129(12):1357-1367. Epub 2022 Jul 12 doi: 10.1016/j.ophtha.2022.07.004. PMID: 35835336Free PMC Article
Chatterjee S, Agrawal D, Agrawal D, Parchand SM, Sahu A
Indian J Ophthalmol 2021 Jul;69(7):1753-1757. doi: 10.4103/ijo.IJO_2916_20. PMID: 34146021Free 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
Vasavada AR, Trivedi RH
J Cataract Refract Surg 1999 Nov;25(11):1527-31. doi: 10.1016/s0886-3350(99)00197-2. PMID: 10569170

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
Li X, Si N, Song Z, Ren Y, Xiao W
Orphanet J Rare Dis 2021 May 31;16(1):242. doi: 10.1186/s13023-021-01873-7. PMID: 34059112Free 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
Kačmař J, Cholevík D
Cesk Slov Oftalmol 2019 Summer;74(6):226-232. doi: 10.31348/2018/6/2. PMID: 31238690

Recent systematic reviews

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
Zhou M, Li DL, Kai JY, Zhang XF, Pan CW
Eye (Lond) 2023 Sep;37(13):2707-2715. Epub 2023 Jan 23 doi: 10.1038/s41433-023-02403-4. PMID: 36683054Free PMC Article
Kletke SN, Mallipatna A, Mireskandari K, Gallie BL, Ali A
Am J Ophthalmol 2022 Jul;239:130-141. Epub 2022 Feb 13 doi: 10.1016/j.ajo.2022.02.001. PMID: 35172168
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
Song P, Wang H, Theodoratou E, Chan KY, Rudan I
J Glob Health 2018 Jun;8(1):010804. doi: 10.7189/jogh.08.010804. PMID: 29977532Free PMC Article

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