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Ophthalmic Genetics Volume 41, 2020 - Issue 4
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Case Reports

Juvenile cataract in association with tuberous sclerosis complex

A. L. Geffreya Herscot Center for Tuberous Sclerosis Complex, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA
,
K. R. Geenena Herscot Center for Tuberous Sclerosis Complex, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA
,
E. Abatib Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan, IRCCS Policlinico Ca’Granda Foundation, Milan, Italy
,
S. H. Greensteinc Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts, USA
,
D. K. VanderVeend Department of Ophthalmology, Boston Children’s Hospital, Boston, Massachusetts, USA
,
R. L. Levye Department of Ophthalmology, Weill Cornell Medical College, New York, New York, USA
,
S. L. Davidsonf Department of Ophthalmology, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
,
M. P. McGarreyc Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts, USA
,
E. A. Thielea Herscot Center for Tuberous Sclerosis Complex, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USACorrespondence[email protected]
&
M. E. Aronowc Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts, USACorrespondence[email protected]
 show all
Pages 345-349 | Received 25 Mar 2020, Accepted 05 Apr 2020, Published online: 27 Apr 2020

References

  • Kwiatkowski DJ, Whittemore VH, Thiele EA. Tuberous sclerosis complex: genes, clinical features and therapeutics. Weinheim, Germany: Wiley-Blackwell; 2010. p. 387–396.
  • Tee AR, Fingar DC, Manning BD, Kwiatkowski DJ, Cantley LC, Blenis J. Tuberous sclerosis complex-1 and −2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling. Proc Natl Acad Sci U S A. 2002 Oct;99(21):13571–76. doi:10.1073/pnas.202476899.
  • Aronow ME, Nakagawa JA, Gupta A, Traboulsi EI, Singh AD. Tuberous sclerosis complex: genotype/phenotype correlation of retinal findings. Ophthalmology. 2012 Sep;119(9):1917–23. doi:10.1016/j.ophtha.2012.03.020.
  • Sher PK. Neurologic disorders associated with visual loss in childhood. Neurol Clin. 1985 Feb;3(1):3–17. doi:10.1016/S0733-8619(18)31052-1.
  • Xu LT, Traboulsi EI. Genetics of congenital cataracts. In: Wilson ME, Trivedi RH, editors. Pediatric cataract surgery: techniques, complications and management. Philadelphia: Lippincott Williams & Wilkins; 2014. p. 1–8.
  • Traboulsi EI, Vanderveen D, Morrison D, Drews-Botsch CD, Lambert SR, Infant Aphakia Treatment Study Group. Associated systemic and ocular disorders in patients with congenital unilateral cataracts: the Infant Aphakia treatment study experience. Eye (Lond). 2016 Sep;30(9):1170–74. doi:10.1038/eye.2016.124.
  • Haargaard B, Wohlfahrt J, Fledelius HC, Rosenberg T, Melbye M. A nationwide Danish study of 1027 cases of congenital/infantile cataracts: etiological and clinical classifications. Ophthalmology. 2004 Dec;111(12):2292–98. doi:10.1016/j.ophtha.2004.06.024.
  • Yakovlev PI, Guthrie RH. 1931. Congenital ectodermoses (neurocutaneous syndromes) in epileptic patients. Arch NeurPsych. 26(6):1145–94. doi:10.1001/archneurpsyc.1931.02230120028003
  • Hall GS. The ocular manifestations of tuberose sclerosis. Q J Med. 1946 Jul;15:209–20. doi:10.1093/qjmed/15.59.209.
  • Warner JE, Lessell S. Cataract in tuberous sclerosis. J Neuroophthalmol. 1997 Mar;17(1):33–35. doi:10.1097/00041327-199703000-00006.
  • Ross AT, Dickerson WW. 1943. Tuberous sclerosis. Arch NeurPsych. 50(3):233–57. doi:10.1001/archneurpsyc.1943.02290210011001
  • Ganekal S, Dorairaj S, Shivashankarappa S, Jhanji V. Bilateral cataracts in tuberous sclerosis. J Ophthalmic Vis Res. 2014 Jan;9(1):113–15.
  • Northrup H, Krueger DA. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013 Oct;49(4):243–54. doi:10.1016/j.pediatrneurol.2013.08.001.
  • Chen CP, Chang TY, Guo WY, Su YN, Chen YY, Chern SR, Su, JW, Wang, W. Detection of maternal transmission of a splicing mutation in the TSC2 gene following prenatal diagnosis of fetal cardiac rhabdomyomas mimicking congenital cystic adenomatoid malformation of the lung and cerebral tubers and awareness of a family history of maternal epilepsy. Taiwan J Obstet Gynecol. 2013 Sep;52(3):415–19. doi:10.1016/j.tjog.2013.05.002.
  • Erlandson A, Hallberg B, Hagberg B, Wahlström J, Martinsson T. MECP2 mutation screening in Swedish classical Rett syndrome females. Eur Child Adolesc Psychiatry. 2001 Jun;10(2):117–21. doi:10.1007/s007870170034.
  • O’Callaghan FJ, Shiell AW, Osborne JP, Martyn CN. Prevalence of tuberous sclerosis estimated by capture-recapture analysis. Lancet. 1998 May;351(9114):1490. doi:10.1016/S0140-6736(05)78872-3.
  • Sampson JR, Scahill SJ, Stephenson JB, Mann L, Connor JM. Genetic aspects of tuberous sclerosis in the west of Scotland. J Med Genet. 1989 Jan;26(1):28–31. doi:10.1136/jmg.26.1.28.
  • Laplante M, Sabatini DM. mTOR signaling in growth control and disease. Cell. 2012 Apr;149(2):274–93. doi:10.1016/j.cell.2012.03.017.
  • Haargaard B, Wohlfahrt J, Fledelius HC, Rosenberg T, Melbye M. Incidence and cumulative risk of childhood cataract in a cohort of 2.6 million Danish children. Invest Ophthalmol Vis Sci. 2004 May;45(5):1316–20. doi:10.1167/iovs.03-0635.
  • Meng Q, Guo H, Xiao L, Cui Y, Guo R, Xiao D, Huang, Y. mTOR regulates TGF-beta(2)-induced epithelial-mesenchymal transition in cultured human lens epithelial cells. Graefes Arch Clin Exp Ophthalmol. 2013 Oct;251(10):2363–70. doi:10.1007/s00417-013-2435-z.
  • Tian F, Dong L, Zhou Y, Shao Y, Li W, Zhang H, Wang F. Rapamycin-Induced apoptosis in HGF-stimulated lens epithelial cells by AKT/mTOR, ERK and JAK2/STAT3 pathways. Int J Mol Sci. 2014 Aug;15(8):13833–48. doi:10.3390/ijms150813833.

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