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Microphthalmia, cataracts, and iris abnormalities

MedGen UID:
350497
Concept ID:
C1864722
Disease or Syndrome
Synonym: Microphthalmia, Cataracts, and Iris Abnormalities
 
OMIM®: 142993; 610092

Professional guidelines

PubMed

Kanwar K, Bashey S, Bohnsack BL, Drackley A, Ing A, Rahmani S, Ranaivo HR, McMullen P, Skol A, Yap K, Allegretti V, Rossen JL
Am J Med Genet A 2024 Aug;194(8):e63618. Epub 2024 Apr 10 doi: 10.1002/ajmg.a.63618. PMID: 38597178
Varrone E, Lenhart P, Rao P, Weil N
J AAPOS 2022 Aug;26(4):207-210. Epub 2022 Jun 11 doi: 10.1016/j.jaapos.2022.04.003. PMID: 35697318

Recent clinical studies

Etiology

Kanwar K, Bashey S, Bohnsack BL, Drackley A, Ing A, Rahmani S, Ranaivo HR, McMullen P, Skol A, Yap K, Allegretti V, Rossen JL
Am J Med Genet A 2024 Aug;194(8):e63618. Epub 2024 Apr 10 doi: 10.1002/ajmg.a.63618. PMID: 38597178
Yenice EK, Petriçli İS, Kara C
Arq Bras Oftalmol 2022;87(1):0536. Epub 2022 Jul 18 doi: 10.5935/0004-2749.2021-0536. PMID: 35857993Free PMC Article
Varrone E, Lenhart P, Rao P, Weil N
J AAPOS 2022 Aug;26(4):207-210. Epub 2022 Jun 11 doi: 10.1016/j.jaapos.2022.04.003. PMID: 35697318
Khan AO, Aldahmesh M
J AAPOS 2006 Jun;10(3):273-4. doi: 10.1016/j.jaapos.2006.02.002. PMID: 16814183
Bateman JB
Pediatr Clin North Am 1983 Dec;30(6):1015-31. doi: 10.1016/s0031-3955(16)34499-6. PMID: 6359041

Diagnosis

Yang JF, Roohipourmoallai R, Straughn PE, Sherwood MB, Agarwal-Sinha S, Zori RT, Iyer SSR
J AAPOS 2021 Oct;25(5):309-311. Epub 2021 Sep 25 doi: 10.1016/j.jaapos.2021.05.014. PMID: 34582953
de Paula Freitas B, Zin A, Ko A, Maia M, Ventura CV, Belfort R Jr
Ophthalmology 2017 Dec;124(12):1876-1878. Epub 2017 Jul 1 doi: 10.1016/j.ophtha.2017.06.009. PMID: 28676282
Lee JS, Lee JE, Shin YG, Choi HY, Oum BS, Kim HJ
Korean J Ophthalmol 2001 Jun;15(1):41-7. doi: 10.3341/kjo.2001.15.1.41. PMID: 11534546
Bateman JB
Pediatr Clin North Am 1983 Dec;30(6):1015-31. doi: 10.1016/s0031-3955(16)34499-6. PMID: 6359041
Hertzberg R
Med J Aust 1969 Mar 15;1(11):594-5. doi: 10.5694/j.1326-5377.1969.tb92309.x. PMID: 5813856

Therapy

Huang J, Ling Y, Lin M, Wu Z, Cheng B, Ge J
Eye Sci 2013 Sep;28(3):113-8. PMID: 24579550
Murthy R, Naik MN, Desai S, Honavar SG
Strabismus 2009 Apr-Jun;17(2):75-7. doi: 10.1080/09273970902798490. PMID: 19551563
Weiss DI, Ziring PR, Cooper LZ
Am J Ophthalmol 1972 Mar;73(3):326-32. doi: 10.1016/0002-9394(72)90060-8. PMID: 5013246

Prognosis

Joshi D, Krishnaprasad R, Agrawal A
Indian J Ophthalmol 2021 Mar;69(3):598-602. doi: 10.4103/ijo.IJO_903_20. PMID: 33595483Free PMC Article
Tibrewal S, Subhedar K, Sen P, Mohan A, Singh S, Shah C, Nischal KK, Ganesh S; Bodhya Eye Consortium
Br J Ophthalmol 2021 Jul;105(7):897-903. Epub 2020 Aug 22 doi: 10.1136/bjophthalmol-2020-316910. PMID: 32829301
Khan AO, Aldahmesh M
J AAPOS 2006 Jun;10(3):273-4. doi: 10.1016/j.jaapos.2006.02.002. PMID: 16814183
Weiss DI, Ziring PR, Cooper LZ
Am J Ophthalmol 1972 Mar;73(3):326-32. doi: 10.1016/0002-9394(72)90060-8. PMID: 5013246
Hertzberg R
Med J Aust 1969 Mar 15;1(11):594-5. doi: 10.5694/j.1326-5377.1969.tb92309.x. PMID: 5813856

Clinical prediction guides

Bobrova NF, Romanova TV, Dovhan OD, Molchaniuk NI
Int Ophthalmol 2025 Feb 7;45(1):63. doi: 10.1007/s10792-025-03436-2. PMID: 39920476
Mahmoud A, Pomar L, Lambert V, Picone O, Hcini N
Ocul Immunol Inflamm 2024 Nov;32(9):2217-2227. Epub 2024 Feb 13 doi: 10.1080/09273948.2024.2314086. PMID: 38350011
Matsushita I, Morita H, Kondo H
Jpn J Ophthalmol 2020 Nov;64(6):635-641. Epub 2020 Aug 28 doi: 10.1007/s10384-020-00766-9. PMID: 32857266
Kondo H, Tahira T, Yamamoto K, Tawara A
Br J Ophthalmol 2013 Sep;97(9):1155-60. Epub 2013 Jul 5 doi: 10.1136/bjophthalmol-2013-303165. PMID: 23832966
Chen RM, Lupski JR, Greenberg F, Lewis RA
Ophthalmology 1996 Jul;103(7):1084-91. doi: 10.1016/s0161-6420(96)30563-0. PMID: 8684798

Recent systematic reviews

Mahmoud A, Pomar L, Lambert V, Picone O, Hcini N
Ocul Immunol Inflamm 2024 Nov;32(9):2217-2227. Epub 2024 Feb 13 doi: 10.1080/09273948.2024.2314086. PMID: 38350011

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    Clinical resources

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