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Ciliary body coloboma

MedGen UID:
892599
•Concept ID:
C4072884
•
Congenital Abnormality
HPO: HP:0020006

Definition

A coloboma of the ciliary body. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCiliary body coloboma

Conditions with this feature

Microphthalmia, syndromic 1
MedGen UID:
162898
•Concept ID:
C0796016
•
Congenital Abnormality
Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait.
See: Condition Record
Microphthalmia, syndromic 1

Recent clinical studies

Etiology

Congenital primary aphakia.
Ernst J, Medsinge A, Scanga HL, Hiasat J, Moore W, Ali A, Levin AV, Stahl ED, Nischal KK
J AAPOS 2022 Feb;26(1):4.e1-4.e5. Epub 2022 Jan 17 doi: 10.1016/j.jaapos.2021.09.008. PMID: 35051625
New insights into the development of infantile intraocular medulloepithelioma.
Jakobiec FA, Trief D, Rashid A, Rose MF, Minckler D, Vanderveen D, Mukai S
Am J Ophthalmol 2014 Dec;158(6):1275-1296.e1. Epub 2014 Aug 28 doi: 10.1016/j.ajo.2014.08.036. PMID: 25174896
Ciliary body medulloepithelioma: analysis of 41 cases.
Kaliki S, Shields CL, Eagle RC Jr, Vemuganti GK, Almeida A, Manjandavida FP, Mulay K, Honavar SG, Shields JA
Ophthalmology 2013 Dec;120(12):2552-2559. Epub 2013 Jun 21 doi: 10.1016/j.ophtha.2013.05.015. PMID: 23796765
High-frequency ultrasonography findings in persistent hyperplastic primary vitreous.
Mackeen LD, Nischal KK, Lam WC, Levin AV
J AAPOS 2000 Aug;4(4):217-24. doi: 10.1067/mpa.2000.105306. PMID: 10951297
Arhinencephaly unilateralis, uveal coloboma, and lens reduplication.
Lyford JH, Roy FH
Am J Ophthalmol 1974 Mar;77(3):315-8. doi: 10.1016/0002-9394(74)90736-3. PMID: 4205015

Diagnosis

Congenital primary aphakia.
Ernst J, Medsinge A, Scanga HL, Hiasat J, Moore W, Ali A, Levin AV, Stahl ED, Nischal KK
J AAPOS 2022 Feb;26(1):4.e1-4.e5. Epub 2022 Jan 17 doi: 10.1016/j.jaapos.2021.09.008. PMID: 35051625
Multiloculated Ciliary Body Cysts and Lenticular Coloboma: A Rare Phenotypic Variation Associated With Persistent Fetal Vasculature.
Gonzalez A, Agarwal-Sinha S, Iyer SSR, Bolling JP
J Pediatr Ophthalmol Strabismus 2018 Nov 2;55:e39-e41. doi: 10.3928/01913913-20181010-01. PMID: 30388281
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
Van De Weghe JC, Rusterholz TDS, Latour B, Grout ME, Aldinger KA, Shaheen R, Dempsey JC, Maddirevula S, Cheng YH, Phelps IG, Gesemann M, Goel H, Birk OS, Alanzi T, Rawashdeh R, Khan AO; University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Neuhauss SCF, Dobyns WB, Alkuraya FS, Roepman R, Bachmann-Gagescu R, Doherty D
Am J Hum Genet 2017 Jul 6;101(1):23-36. Epub 2017 Jun 15 doi: 10.1016/j.ajhg.2017.05.010. PMID: 28625504Free PMC Article
Congenital Glaucoma and CHARGE Syndrome: A Case Report.
Benson MD, Jivraj I, Damji KF, Solarte CE
J Glaucoma 2017 Feb;26(2):e84-e86. doi: 10.1097/IJG.0000000000000555. PMID: 27661987
Ciliary body medulloepithelioma: analysis of 41 cases.
Kaliki S, Shields CL, Eagle RC Jr, Vemuganti GK, Almeida A, Manjandavida FP, Mulay K, Honavar SG, Shields JA
Ophthalmology 2013 Dec;120(12):2552-2559. Epub 2013 Jun 21 doi: 10.1016/j.ophtha.2013.05.015. PMID: 23796765

Therapy

Congenital Glaucoma and CHARGE Syndrome: A Case Report.
Benson MD, Jivraj I, Damji KF, Solarte CE
J Glaucoma 2017 Feb;26(2):e84-e86. doi: 10.1097/IJG.0000000000000555. PMID: 27661987
Bilateral optic nerve abnormalities associated with a 4-10 chromosomal translocation.
Benezra D, Maftzir G, Peer J, Cohen E
Ophthalmic Paediatr Genet 1985 Apr;5(3):151-4. doi: 10.3109/13816818509006127. PMID: 4069577
Angel-closure glaucoma following scleral buckling operations.
Perez RN, Phelps CD, Burton TC
Trans Sect Ophthalmol Am Acad Ophthalmol Otolaryngol 1976 Mar-Apr;81(2):247-52. PMID: 936397

Prognosis

Congenital primary aphakia.
Ernst J, Medsinge A, Scanga HL, Hiasat J, Moore W, Ali A, Levin AV, Stahl ED, Nischal KK
J AAPOS 2022 Feb;26(1):4.e1-4.e5. Epub 2022 Jan 17 doi: 10.1016/j.jaapos.2021.09.008. PMID: 35051625
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
Van De Weghe JC, Rusterholz TDS, Latour B, Grout ME, Aldinger KA, Shaheen R, Dempsey JC, Maddirevula S, Cheng YH, Phelps IG, Gesemann M, Goel H, Birk OS, Alanzi T, Rawashdeh R, Khan AO; University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Neuhauss SCF, Dobyns WB, Alkuraya FS, Roepman R, Bachmann-Gagescu R, Doherty D
Am J Hum Genet 2017 Jul 6;101(1):23-36. Epub 2017 Jun 15 doi: 10.1016/j.ajhg.2017.05.010. PMID: 28625504Free PMC Article
Iris neovascularization in children as a manifestation of underlying medulloepithelioma.
Singh A, Singh AD, Shields CL, Shields JA
J Pediatr Ophthalmol Strabismus 2001 Jul-Aug;38(4):224-8. doi: 10.3928/0191-3913-20010701-09. PMID: 11495310
Arhinencephaly unilateralis, uveal coloboma, and lens reduplication.
Lyford JH, Roy FH
Am J Ophthalmol 1974 Mar;77(3):315-8. doi: 10.1016/0002-9394(74)90736-3. PMID: 4205015

Clinical prediction guides

Optical changes and apparent emmetropization in a patient with a peripheral unilateral lens coloboma.
Assayag E, Zadok D, Smadja D, Roditi E, Shoshani A, Weill Y
J AAPOS 2021 Jun;25(3):195-198. Epub 2021 May 11 doi: 10.1016/j.jaapos.2021.02.006. PMID: 33989793
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
Van De Weghe JC, Rusterholz TDS, Latour B, Grout ME, Aldinger KA, Shaheen R, Dempsey JC, Maddirevula S, Cheng YH, Phelps IG, Gesemann M, Goel H, Birk OS, Alanzi T, Rawashdeh R, Khan AO; University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Neuhauss SCF, Dobyns WB, Alkuraya FS, Roepman R, Bachmann-Gagescu R, Doherty D
Am J Hum Genet 2017 Jul 6;101(1):23-36. Epub 2017 Jun 15 doi: 10.1016/j.ajhg.2017.05.010. PMID: 28625504Free PMC Article
Ocular findings of Beals syndrome.
Takaesu-Miyagi S, Sakai H, Shiroma T, Hayakawa K, Funakoshi Y, Sawaguchi S
Jpn J Ophthalmol 2004 Sep-Oct;48(5):470-4. doi: 10.1007/s10384-004-0106-7. PMID: 15486770
High-frequency ultrasonography findings in persistent hyperplastic primary vitreous.
Mackeen LD, Nischal KK, Lam WC, Levin AV
J AAPOS 2000 Aug;4(4):217-24. doi: 10.1067/mpa.2000.105306. PMID: 10951297
Angel-closure glaucoma following scleral buckling operations.
Perez RN, Phelps CD, Burton TC
Trans Sect Ophthalmol Am Acad Ophthalmol Otolaryngol 1976 Mar-Apr;81(2):247-52. PMID: 936397

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