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Microphthalmia, isolated, with coloboma 8(MCOPCB8)

MedGen UID:
761921
•Concept ID:
C3540845
•
Disease or Syndrome
Synonym: MCOPCB8
 
Monarch Initiative: MONDO:0800324
OMIM®: 601186; 610745

Recent clinical studies

Etiology

Clinical spectrum of non-syndromic microphthalmos, anophthalmos and coloboma in the paediatric population: a multicentric study from North India.
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

Diagnosis

Spectrum of congenital and inherited ocular disorders seen in a genetic clinic: Experience of a developing ocular genetic service.
Sahu A, Kaur S, Sukhija J, Srivastava P, Kaur A
Indian J Ophthalmol 2023 Mar;71(3):935-940. doi: 10.4103/ijo.IJO_1177_22. PMID: 36872713Free PMC Article
Clinical spectrum of non-syndromic microphthalmos, anophthalmos and coloboma in the paediatric population: a multicentric study from North India.
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
Prenatal description of retinal coloboma.
Egloff C, Tassin M, Bault JP, Barjol A, Collin A, Simon I, Sibiude J, Mandelbrot L, Picone O
J Gynecol Obstet Hum Reprod 2020 Sep;49(7):101746. Epub 2020 May 11 doi: 10.1016/j.jogoh.2020.101746. PMID: 32438134
SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadism.
Shima H, Ishii A, Wada Y, Kizawa J, Yokoi T, Azuma N, Matsubara Y, Suzuki E, Nakamura A, Narumi S, Fukami M
Endocr J 2017 Aug 30;64(8):813-817. Epub 2017 Jul 28 doi: 10.1507/endocrj.EJ17-0078. PMID: 28659543
Systemic diagnostic testing in patients with apparently isolated uveal coloboma.
Huynh N, Blain D, Glaser T, Doss EL, Zein WM, Lang DM, Baker EH, Hill S, Brewer CC, Kopp JB, Bardakjian TM, Maumenee IH, Bateman BJ, Brooks BP
Am J Ophthalmol 2013 Dec;156(6):1159-1168.e4. Epub 2013 Sep 5 doi: 10.1016/j.ajo.2013.06.037. PMID: 24012100Free PMC Article

Prognosis

Clinical spectrum of non-syndromic microphthalmos, anophthalmos and coloboma in the paediatric population: a multicentric study from North India.
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

Clinical prediction guides

Clinical spectrum of non-syndromic microphthalmos, anophthalmos and coloboma in the paediatric population: a multicentric study from North India.
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
Systemic diagnostic testing in patients with apparently isolated uveal coloboma.
Huynh N, Blain D, Glaser T, Doss EL, Zein WM, Lang DM, Baker EH, Hill S, Brewer CC, Kopp JB, Bardakjian TM, Maumenee IH, Bateman BJ, Brooks BP
Am J Ophthalmol 2013 Dec;156(6):1159-1168.e4. Epub 2013 Sep 5 doi: 10.1016/j.ajo.2013.06.037. PMID: 24012100Free PMC Article
A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.
Morlé L, Bozon M, Zech JC, Alloisio N, Raas-Rothschild A, Philippe C, Lambert JC, Godet J, Plauchu H, Edery P
Am J Hum Genet 2000 Dec;67(6):1592-7. Epub 2000 Oct 13 doi: 10.1086/316894. PMID: 11035633Free PMC Article

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