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Spherophakia

MedGen UID:
452350
Concept ID:
C0266542
Congenital Abnormality
Synonym: Congenital spherophakia
SNOMED CT: Spherophakia (4465002); Congenital spherophakia (4465002)
 
HPO: HP:0034375

Definition

Spherophakia is a rare congenital condition that presents with weak zonules around a more spherical crystalline lens with an increased anteroposterior thickness of the lens, and highly myopic eye. The lens zonules are developmentally hypoplastic and abnormally weak and due to non-attachment of the posterior zonules to the equatorial zone of the lens, the lens changes its normal shape to spherical. [from HPO]

Conditions with this feature

Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
MedGen UID:
330396
Concept ID:
C1832167
Disease or Syndrome
Traboulsi syndrome is characterized by dislocated crystalline lenses and anterior segment abnormalities in association with a distinctive facies involving flat cheeks and a beaked nose. Some affected individuals develop highly unusual nontraumatic conjunctival cysts (filtering blebs), presumably caused by abnormal thinning of the sclera (Patel et al., 2014).

Professional guidelines

PubMed

Marzin P, Rondeau S, Alessandri JL, Dieterich K, le Goff C, Mahaut C, Mercier S, Michot C, Moldovan O, Miolo G, Rossi M, Van-Gils J, Francannet C, Robert MP, Jaïs JP, Huber C, Cormier-Daire V
J Med Genet 2024 Jan 19;61(2):109-116. doi: 10.1136/jmg-2023-109288. PMID: 37734846

Recent clinical studies

Etiology

Marzin P, Rondeau S, Alessandri JL, Dieterich K, le Goff C, Mahaut C, Mercier S, Michot C, Moldovan O, Miolo G, Rossi M, Van-Gils J, Francannet C, Robert MP, Jaïs JP, Huber C, Cormier-Daire V
J Med Genet 2024 Jan 19;61(2):109-116. doi: 10.1136/jmg-2023-109288. PMID: 37734846
Burugupally K, Senthil S, Parameshwarappa DC, Ali H, Balakrishnan D, Garudadri C
Indian J Ophthalmol 2023 Jun;71(6):2487-2492. doi: 10.4103/ijo.IJO_1866_22. PMID: 37322667Free PMC Article
Khokhar S, Pillay G, Sen S, Agarwal E
Eye (Lond) 2018 Mar;32(3):527-536. Epub 2017 Nov 3 doi: 10.1038/eye.2017.229. PMID: 29099498Free PMC Article
Khokhar S, Agarwal T, Kumar G, Kushmesh R, Tejwani LK
J Pediatr Ophthalmol Strabismus 2012 Jan-Feb;49(1):32-7. Epub 2011 Jun 21 doi: 10.3928/01913913-20110614-01. PMID: 21688762
Khan AO
Curr Opin Ophthalmol 2011 Sep;22(5):347-55. doi: 10.1097/ICU.0b013e32834922d2. PMID: 21730848

Diagnosis

Gao F, Wang J, Chen J, Wang X, Chen Y, Sun X
Graefes Arch Clin Exp Ophthalmol 2021 Aug;259(8):2379-2387. Epub 2021 Apr 19 doi: 10.1007/s00417-021-05172-6. PMID: 33876278Free PMC Article
Valmaggia C, Sturm V
Klin Monbl Augenheilkd 2021 Apr;238(4):378-379. Epub 2021 Feb 22 doi: 10.1055/a-1354-5610. PMID: 33618385
Khan AO
Curr Opin Ophthalmol 2013 Sep;24(5):369-78. doi: 10.1097/ICU.0b013e3283638374. PMID: 23846189
Khan AO
Curr Opin Ophthalmol 2011 Sep;22(5):347-55. doi: 10.1097/ICU.0b013e32834922d2. PMID: 21730848
Macken PL, Pavlin CJ, Tuli R, Trope GE
Aust N Z J Ophthalmol 1995 Aug;23(3):217-20. doi: 10.1111/j.1442-9071.1995.tb00160.x. PMID: 8534447

Therapy

Burugupally K, Senthil S, Parameshwarappa DC, Ali H, Balakrishnan D, Garudadri C
Indian J Ophthalmol 2023 Jun;71(6):2487-2492. doi: 10.4103/ijo.IJO_1866_22. PMID: 37322667Free PMC Article
Kalamkar C, Radke NV, Mukherjee A, Radke SN
Middle East Afr J Ophthalmol 2019 Jan-Mar;26(1):33-36. doi: 10.4103/meajo.MEAJO_162_16. PMID: 31114122Free PMC Article
Khokhar S, Pillay G, Sen S, Agarwal E
Eye (Lond) 2018 Mar;32(3):527-536. Epub 2017 Nov 3 doi: 10.1038/eye.2017.229. PMID: 29099498Free PMC Article
Day AC, Nolan W, Malik AN, Viswanathan AC, Foster PJ
BMJ Case Rep 2012 May 8;2012 doi: 10.1136/bcr.01.2012.5694. PMID: 22605837Free PMC Article
Wu-Chen WY, Letson RD, Summers CG
J AAPOS 2005 Aug;9(4):353-7. doi: 10.1016/j.jaapos.2005.03.004. PMID: 16102486

Prognosis

Stanbury K, Stavinohova R, Pettitt L, Dixon C, Schofield EC, Mclaughlin B, Pettinen I, Lohi H, Ricketts SL, Oliver JA, Mellersh CS
PLoS One 2023;18(12):e0295851. Epub 2023 Dec 28 doi: 10.1371/journal.pone.0295851. PMID: 38153936Free PMC Article
Khokhar S, Pillay G, Sen S, Agarwal E
Eye (Lond) 2018 Mar;32(3):527-536. Epub 2017 Nov 3 doi: 10.1038/eye.2017.229. PMID: 29099498Free PMC Article
Summanen P, Kivitie-Kallio S, Norio R, Raitta C, Kivelä T
Invest Ophthalmol Vis Sci 2002 May;43(5):1686-93. PMID: 11980891
Parini R, Briscioli V, Caruso U, Dorche C, Fortuna R, Minniti G, Selicorni A, Vismara E, Mancini G
Am J Med Genet 1997 Dec 19;73(3):272-5. doi: 10.1002/(sici)1096-8628(19971219)73:3<272::aid-ajmg8>3.0.co;2-u. PMID: 9415683
Blaxter PL
Trans Ophthalmol Soc U K (1962) 1969;88:621-32. PMID: 5272283

Clinical prediction guides

Stanbury K, Stavinohova R, Pettitt L, Dixon C, Schofield EC, Mclaughlin B, Pettinen I, Lohi H, Ricketts SL, Oliver JA, Mellersh CS
PLoS One 2023;18(12):e0295851. Epub 2023 Dec 28 doi: 10.1371/journal.pone.0295851. PMID: 38153936Free PMC Article
Christensen AE, Fiskerstrand T, Knappskog PM, Boman H, Rødahl E
Invest Ophthalmol Vis Sci 2010 Dec;51(12):6369-73. Epub 2010 Aug 11 doi: 10.1167/iovs.10-5597. PMID: 20702823
Summanen P, Kivitie-Kallio S, Norio R, Raitta C, Kivelä T
Invest Ophthalmol Vis Sci 2002 May;43(5):1686-93. PMID: 11980891
Dietlein TS, Jacobi PC, Krieglstein GK
Ger J Ophthalmol 1996 Nov;5(6):439-42. PMID: 9479533
Meire FM, Delleman WJ, Bleeker-Wagemakers EM
Ophthalmic Paediatr Genet 1991 Mar;12(1):1-9. doi: 10.3109/13816819109023078. PMID: 1881650

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