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Syndromic microspherophakia

MedGen UID:
1842434
•Concept ID:
C5681371
•
Congenital Abnormality
Synonym: syndromic microspherophakia
 
Monarch Initiative: MONDO:0850009
Orphanet: ORPHA519294

Professional guidelines

PubMed

Genotype-phenotype profile of global ASPH-associated ectopia lentis and clinical findings from a Chinese cohort.
Chen ZX, Jia WN, Sun Y, Jiang YX
Gene 2024 Oct 20;925:148600. Epub 2024 May 23 doi: 10.1016/j.gene.2024.148600. PMID: 38788814
Characteristics and genotype-phenotype correlations in ADAMTS17 mutation-related Weill-Marchesani syndrome.
Guo D, Liu L, Yang F, Young CA, Zheng D, Jin G
Exp Eye Res 2023 Sep;234:109606. Epub 2023 Jul 26 doi: 10.1016/j.exer.2023.109606. PMID: 37506754
Glaucoma in microspherophakia: presenting features and treatment outcomes.
Senthil S, Rao HL, Hoang NT, Jonnadula GB, Addepalli UK, Mandal AK, Garudadari CS
J Glaucoma 2014 Apr-May;23(4):262-7. doi: 10.1097/IJG.0b013e3182707437. PMID: 23059485

Recent clinical studies

Etiology

18-month results of double-fanged 5-0 polypropylene suture transscleral bag fixation in subluxated cataracts.
Canabrava S, Rodrigues G, Halabi NN, Rezende AC, Cardoso M
Arq Bras Oftalmol 2023 Mar-Apr;86(2):113-120. doi: 10.5935/0004-2749.20230022. PMID: 35417514
Intra-lenticular lens aspiration in paediatric cases with anterior dislocation of lens.
Sahay P, Maharana PK, Shaikh N, Goel S, Sinha R, Agarwal T, Sharma N, Titiyal JS
Eye (Lond) 2019 Sep;33(9):1411-1417. Epub 2019 Apr 3 doi: 10.1038/s41433-019-0426-y. PMID: 30944461Free PMC Article
Glaucoma in microspherophakia: presenting features and treatment outcomes.
Senthil S, Rao HL, Hoang NT, Jonnadula GB, Addepalli UK, Mandal AK, Garudadari CS
J Glaucoma 2014 Apr-May;23(4):262-7. doi: 10.1097/IJG.0b013e3182707437. PMID: 23059485
From tall to short: the role of TGFβ signaling in growth and its disorders.
Le Goff C, Cormier-Daire V
Am J Med Genet C Semin Med Genet 2012 Aug 15;160C(3):145-53. Epub 2012 Jul 12 doi: 10.1002/ajmg.c.31337. PMID: 22791552
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.
Faivre L, Dollfus H, Lyonnet S, Alembik Y, Mégarbané A, Samples J, Gorlin RJ, Alswaid A, Feingold J, Le Merrer M, Munnich A, Cormier-Daire V
Am J Med Genet A 2003 Dec 1;123A(2):204-7. doi: 10.1002/ajmg.a.20289. PMID: 14598350

Diagnosis

Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype-phenotype analysis.
Chen Z, Chen T, Zhang M, Chen J, Deng M, Zheng J, Lan LN, Jiang Y
Br J Ophthalmol 2022 Dec;106(12):1655-1661. Epub 2021 Jul 19 doi: 10.1136/bjophthalmol-2021-319084. PMID: 34281902Free PMC Article
Weill-Marchesani Syndrome, a Rare Presentation of Severe Short Stature with Review of the Literature.
Al Motawa MNA, Al Shehri MSS, Al Buali MJ, Al Agnam AAM
Am J Case Rep 2021 May 31;22:e930824. doi: 10.12659/AJCR.930824. PMID: 34057920Free PMC Article
Recurrent unintentional filtering blebs after vitrectomy: A case report.
Shanmugam PM, Sagar P, Konana VK, Simakurthy S, Ramanjulu R, Sheemar A, Divyansh Mishra KC
Indian J Ophthalmol 2020 Apr;68(4):660-662. doi: 10.4103/ijo.IJO_1249_19. PMID: 32174599Free PMC Article
Double trouble: Microspherophakia with Axenfeld-Rieger anomaly.
Shakrawal J, Selvan H, Sharma A, Angmo D
Indian J Ophthalmol 2019 Mar;67(3):394-395. doi: 10.4103/ijo.IJO_978_18. PMID: 30777961Free PMC Article
Glaucoma in microspherophakia: presenting features and treatment outcomes.
Senthil S, Rao HL, Hoang NT, Jonnadula GB, Addepalli UK, Mandal AK, Garudadari CS
J Glaucoma 2014 Apr-May;23(4):262-7. doi: 10.1097/IJG.0b013e3182707437. PMID: 23059485

Therapy

18-month results of double-fanged 5-0 polypropylene suture transscleral bag fixation in subluxated cataracts.
Canabrava S, Rodrigues G, Halabi NN, Rezende AC, Cardoso M
Arq Bras Oftalmol 2023 Mar-Apr;86(2):113-120. doi: 10.5935/0004-2749.20230022. PMID: 35417514
Intra-lenticular lens aspiration in paediatric cases with anterior dislocation of lens.
Sahay P, Maharana PK, Shaikh N, Goel S, Sinha R, Agarwal T, Sharma N, Titiyal JS
Eye (Lond) 2019 Sep;33(9):1411-1417. Epub 2019 Apr 3 doi: 10.1038/s41433-019-0426-y. PMID: 30944461Free PMC Article
Ectopia Lentis with Microspherophakia in Marfan Syndrome Resolved with Mydriasis.
Bontzos G, Giarmoukakis A, Tsilimbaris M
Ophthalmology 2017 Sep;124(9):1313. doi: 10.1016/j.ophtha.2017.02.007. PMID: 28823347
Glaucoma in microspherophakia: presenting features and treatment outcomes.
Senthil S, Rao HL, Hoang NT, Jonnadula GB, Addepalli UK, Mandal AK, Garudadari CS
J Glaucoma 2014 Apr-May;23(4):262-7. doi: 10.1097/IJG.0b013e3182707437. PMID: 23059485
Long-term complications of iris-claw phakic intraocular lens implantation in Weill-Marchesani syndrome.
Burakgazi AZ, Ozbek Z, Rapuano CJ, Rhee DJ
Cornea 2006 Apr;25(3):361-3. doi: 10.1097/01.ico.0000178724.04070.ce. PMID: 16633042

Prognosis

LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant.
Morlino S, Alesi V, Calì F, Lepri FR, Secinaro A, Grammatico P, Novelli A, Drago F, Castori M, Baban A
Am J Med Genet A 2019 Jan;179(1):104-112. Epub 2018 Dec 18 doi: 10.1002/ajmg.a.10. PMID: 30565850
Retropupillary iris-claw intraocular lens for the surgical correction of aphakia in cases with microspherophakia.
Fouda SM, Al Aswad MA, Ibrahim BM, Bori A, Mattout HK
Indian J Ophthalmol 2016 Dec;64(12):884-887. doi: 10.4103/0301-4738.198844. PMID: 28112127Free PMC Article
Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome.
Steinkellner H, Etzler J, Gogoll L, Neesen J, Stifter E, Brandau O, Laccone F
Eur J Hum Genet 2015 Sep;23(9):1186-91. Epub 2014 Dec 3 doi: 10.1038/ejhg.2014.264. PMID: 25469541Free PMC Article
A homozygous mutation in LTBP2 causes isolated microspherophakia.
Kumar A, Duvvari MR, Prabhakaran VC, Shetty JS, Murthy GJ, Blanton SH
Hum Genet 2010 Oct;128(4):365-71. Epub 2010 Jul 9 doi: 10.1007/s00439-010-0858-8. PMID: 20617341
Weill-Marchesani syndrome associated with retinitis pigmentosa.
Jethani J, Mishra A, Shetty S, Vijayalakshmi P
Indian J Ophthalmol 2007 Mar-Apr;55(2):142-3. doi: 10.4103/0301-4738.30711. PMID: 17322607

Clinical prediction guides

A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill-Marchesani syndrome from a Chinese family.
Yi H, Zha X, Zhu Y, Lv J, Hu S, Kong Y, Wu G, Yang Y, He Y
J Hum Genet 2019 Jul;64(7):681-687. Epub 2019 Apr 25 doi: 10.1038/s10038-019-0608-2. PMID: 31019231
Intra-lenticular lens aspiration in paediatric cases with anterior dislocation of lens.
Sahay P, Maharana PK, Shaikh N, Goel S, Sinha R, Agarwal T, Sharma N, Titiyal JS
Eye (Lond) 2019 Sep;33(9):1411-1417. Epub 2019 Apr 3 doi: 10.1038/s41433-019-0426-y. PMID: 30944461Free PMC Article
Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome.
Steinkellner H, Etzler J, Gogoll L, Neesen J, Stifter E, Brandau O, Laccone F
Eur J Hum Genet 2015 Sep;23(9):1186-91. Epub 2014 Dec 3 doi: 10.1038/ejhg.2014.264. PMID: 25469541Free PMC Article
From tall to short: the role of TGFβ signaling in growth and its disorders.
Le Goff C, Cormier-Daire V
Am J Med Genet C Semin Med Genet 2012 Aug 15;160C(3):145-53. Epub 2012 Jul 12 doi: 10.1002/ajmg.c.31337. PMID: 22791552
A homozygous mutation in LTBP2 causes isolated microspherophakia.
Kumar A, Duvvari MR, Prabhakaran VC, Shetty JS, Murthy GJ, Blanton SH
Hum Genet 2010 Oct;128(4):365-71. Epub 2010 Jul 9 doi: 10.1007/s00439-010-0858-8. PMID: 20617341

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