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Inferior retinal coloboma

MedGen UID:
1644340
•Concept ID:
C4703442
•
Congenital Abnormality
HPO: HP:0031614

Definition

A notch or cleft of the lower part of the retina. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInferior retinal coloboma

Recent clinical studies

Etiology

A case of retinal detachment in colobomatous macrophthalmos with microcornea syndrome.
Seung HK, Kim HK, Nam WH
Korean J Ophthalmol 2009 Dec;23(4):312-4. Epub 2009 Dec 4 doi: 10.3341/kjo.2009.23.4.312. PMID: 20046696Free PMC Article
Complex limbal choristomas in linear nevus sebaceous syndrome.
Duncan JL, Golabi M, Fredrick DR, Hoyt CS, Hwang DG, Kramer SG, Howes EL Jr, Cunningham ET Jr
Ophthalmology 1998 Aug;105(8):1459-65. doi: 10.1016/S0161-6420(98)98029-0. PMID: 9709758
Vasoproliferative tumors of the ocular fundus. Classification and clinical manifestations in 103 patients.
Shields CL, Shields JA, Barrett J, De Potter P
Arch Ophthalmol 1995 May;113(5):615-23. doi: 10.1001/archopht.1995.01100050083035. PMID: 7748132
An unusual fundus finding in a patient with optic nerve pit syndrome.
Gündüz K, Gündüz K, Okudan S, Ozbayrak H
Doc Ophthalmol 1993;84(2):171-8. doi: 10.1007/BF01206251. PMID: 8299507

Diagnosis

Floating-Harbor syndrome with chorioretinal colobomas.
Alanis S, Blair MP, Kaufman LM, Bhat G, Shapiro MJ
Ophthalmic Genet 2024 Apr;45(2):207-209. Epub 2023 Sep 18 doi: 10.1080/13816810.2023.2255895. PMID: 37722826
Confirming and expanding the phenotypes of FZD5 variants: Coloboma, inferior chorioretinal hypoplasia, and high myopia.
Jiang Y, Ouyang J, Li S, Xiao X, Sun W, Zhang Q
Mol Vis 2021;27:50-60. Epub 2021 Jan 20 PMID: 33633439Free PMC Article
"HOURGLASS COLOBOMA": A CASE REPORT AND REVIEW OF ETIOPATHOGENESIS.
Kumar M, Shanmugam M, Sagar P, Kumar D, Konana VK
Retin Cases Brief Rep 2021 Jul 1;15(4):441-444. doi: 10.1097/ICB.0000000000000810. PMID: 30045150
Ocular coloboma: Genetic variants reveal a dynamic model of eye development.
Yoon KH, Fox SC, Dicipulo R, Lehmann OJ, Waskiewicz AJ
Am J Med Genet C Semin Med Genet 2020 Sep;184(3):590-610. Epub 2020 Aug 27 doi: 10.1002/ajmg.c.31831. PMID: 32852110
Optic disc coloboma in two nigerian siblings: Case report and review of literature.
Babalola YO, Olawoye OO, Idam PO
Niger J Clin Pract 2017 Nov;20(11):1505-1509. doi: 10.4103/njcp.njcp_412_16. PMID: 29303140

Therapy

The development of recurrent choroidal neovascularization in a patient with choroidal coloboma.
Lee SH, Ahn JK, Yu HG
Korean J Ophthalmol 2011 Feb;25(1):63-5. Epub 2011 Jan 17 doi: 10.3341/kjo.2011.25.1.63. PMID: 21350699Free PMC Article
Pupillary block glaucoma due to residual perfluoro-decalin.
Alster Y, Ben-Nun Y, Loewenstein A, Lazar M
Ophthalmic Surg Lasers 1996 May;27(5):395-6. PMID: 9156826

Prognosis

A case of retinal detachment in colobomatous macrophthalmos with microcornea syndrome.
Seung HK, Kim HK, Nam WH
Korean J Ophthalmol 2009 Dec;23(4):312-4. Epub 2009 Dec 4 doi: 10.3341/kjo.2009.23.4.312. PMID: 20046696Free PMC Article
Complex limbal choristomas in linear nevus sebaceous syndrome.
Duncan JL, Golabi M, Fredrick DR, Hoyt CS, Hwang DG, Kramer SG, Howes EL Jr, Cunningham ET Jr
Ophthalmology 1998 Aug;105(8):1459-65. doi: 10.1016/S0161-6420(98)98029-0. PMID: 9709758
An unusual fundus finding in a patient with optic nerve pit syndrome.
Gündüz K, Gündüz K, Okudan S, Ozbayrak H
Doc Ophthalmol 1993;84(2):171-8. doi: 10.1007/BF01206251. PMID: 8299507

Clinical prediction guides

SOLITARY RETINAL CAPILLARY HEMANGIOMA IN A PATIENT WITH BILATERAL CHORIORETINAL COLOBOMA.
Lasave AF, Deromedis P
Retin Cases Brief Rep 2019 Fall;13(4):320-323. doi: 10.1097/ICB.0000000000000586. PMID: 28358746Free PMC Article
The development of recurrent choroidal neovascularization in a patient with choroidal coloboma.
Lee SH, Ahn JK, Yu HG
Korean J Ophthalmol 2011 Feb;25(1):63-5. Epub 2011 Jan 17 doi: 10.3341/kjo.2011.25.1.63. PMID: 21350699Free PMC Article
Left-sided Duane's syndrome and retinal coloboma associated with contralateral microphthalmia.
Garnica-Hayashi RE, Vargas-Ortega J, Zenteno JC
Strabismus 2007 Apr-Jun;15(2):113-7. doi: 10.1080/09273970701431418. PMID: 17564942
Complex limbal choristomas in linear nevus sebaceous syndrome.
Duncan JL, Golabi M, Fredrick DR, Hoyt CS, Hwang DG, Kramer SG, Howes EL Jr, Cunningham ET Jr
Ophthalmology 1998 Aug;105(8):1459-65. doi: 10.1016/S0161-6420(98)98029-0. PMID: 9709758
Vasoproliferative tumors of the ocular fundus. Classification and clinical manifestations in 103 patients.
Shields CL, Shields JA, Barrett J, De Potter P
Arch Ophthalmol 1995 May;113(5):615-23. doi: 10.1001/archopht.1995.01100050083035. PMID: 7748132

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