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Optic pit

MedGen UID:
572597
Concept ID:
C0338504
Congenital Abnormality
Synonyms: Optic disc pit; Optic nerve pit
 
HPO: HP:0034567

Definition

A developmental anomaloy characterized by congenital excavation of the optic nerve head. [from HPO]

Conditions with this feature

Microphthalmia, isolated, with coloboma 10
MedGen UID:
909133
Concept ID:
C4225330
Disease or Syndrome
Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the RBP4 gene.

Professional guidelines

PubMed

Kiehelä S, Loukovaara S
Acta Ophthalmol 2024 Jun;102(4):e659-e660. Epub 2024 Mar 19 doi: 10.1111/aos.16673. PMID: 38501705
Light JG, Pyfer MS, Salabati M, Mahmoudzadeh R, Wakabayashi T, Ho AC
Curr Opin Ophthalmol 2022 May 1;33(3):157-166. Epub 2022 Mar 2 doi: 10.1097/ICU.0000000000000844. PMID: 35239516
Rizzo S, Belting C, Genovesi-Ebert F, Di Bartolo E, Cresti F, Cinelli L, Allegrini L
Eur J Ophthalmol 2012 Jul-Aug;22(4):620-5. doi: 10.5301/ejo.5000083. PMID: 22081669

Recent clinical studies

Etiology

Iros M, Parolini B, Ozdek S, Gini G, Nawrocka ZA, Ellabban AA, Faramawi MF, Adelman R, Sallam AB; EVRS Study Group
Acta Ophthalmol 2022 Sep;100(6):e1264-e1271. Epub 2021 Dec 7 doi: 10.1111/aos.15076. PMID: 34877796
Besada E, Frauens B
Clin Exp Optom 2020 Mar;103(2):238-240. Epub 2019 May 15 doi: 10.1111/cxo.12920. PMID: 31090083
Gregory-Roberts EM, Mateo C, Corcóstegui B, Schiff WM, Chang LK, Quiroz-Mercado H, Park S, Chang S
Retina 2013 Feb;33(2):363-70. doi: 10.1097/IAE.0b013e318263d0a6. PMID: 23222388
Goktas A, Goktas S
Optom Vis Sci 2010 Aug;87(8):585-7. doi: 10.1097/OPX.0b013e3181e64ee3. PMID: 20562671
Golnik KC
Curr Neurol Neurosci Rep 2008 Sep;8(5):409-13. doi: 10.1007/s11910-008-0063-5. PMID: 18713577

Diagnosis

Light JG, Pyfer MS, Salabati M, Mahmoudzadeh R, Wakabayashi T, Ho AC
Curr Opin Ophthalmol 2022 May 1;33(3):157-166. Epub 2022 Mar 2 doi: 10.1097/ICU.0000000000000844. PMID: 35239516
Iros M, Parolini B, Ozdek S, Gini G, Nawrocka ZA, Ellabban AA, Faramawi MF, Adelman R, Sallam AB; EVRS Study Group
Acta Ophthalmol 2022 Sep;100(6):e1264-e1271. Epub 2021 Dec 7 doi: 10.1111/aos.15076. PMID: 34877796
Carr ER
Clin Exp Optom 2020 Sep;103(5):583-589. Epub 2019 Oct 29 doi: 10.1111/cxo.12977. PMID: 31663163
Uzel MM, Karacorlu M
Surv Ophthalmol 2019 Sep-Oct;64(5):595-607. Epub 2019 Feb 22 doi: 10.1016/j.survophthal.2019.02.006. PMID: 30797884
Jain N, Johnson MW
Am J Ophthalmol 2014 Sep;158(3):423-35. Epub 2014 Jun 14 doi: 10.1016/j.ajo.2014.06.001. PMID: 24932988

Therapy

Patel NA, Berrocal AM
Retin Cases Brief Rep 2022 Jul 1;16(4):470-472. doi: 10.1097/ICB.0000000000001010. PMID: 32541436
Adams MK, Cohen SY, Souied EH, Goldenberg D, Loewenstein A, Olsen TW, Pulido JS
Retin Cases Brief Rep 2020 Fall;14(4):289-296. doi: 10.1097/ICB.0000000000000765. PMID: 30045152
Skaat A, Moroz I, Moisseiev J
Eur J Ophthalmol 2013 May-Jun;23(3):385-93. Epub 2013 Jan 8 doi: 10.5301/ejo.5000230. PMID: 23335316
Shukla D, Kalliath J, Tandon M, Vijayakumar B
Retina 2012 Jul;32(7):1337-42. doi: 10.1097/IAE.0b013e318235d8fc. PMID: 22481474
Bonnet M
Graefes Arch Clin Exp Ophthalmol 1991;229(6):526-32. doi: 10.1007/BF00203315. PMID: 1765292

Prognosis

Chaves L, Costa J, Bastos T, Albuquerque M, Scott I, Jorge R
Arq Bras Oftalmol 2023;86(5):e20230066. Epub 2023 Oct 13 doi: 10.5935/0004-2749.20230066. PMID: 35544936
Muftuoglu IK, Tokuc EO, Karabas VL
Eur J Ophthalmol 2022 May;32(3):1720-1727. Epub 2021 Jun 16 doi: 10.1177/11206721211023727. PMID: 34132128
Michalewska Z, Nawrocka Z, Nawrocki J
Ophthalmol Retina 2020 Sep;4(9):927-937. Epub 2020 Apr 8 doi: 10.1016/j.oret.2020.03.025. PMID: 32595097
Carr ER
Clin Exp Optom 2020 Sep;103(5):583-589. Epub 2019 Oct 29 doi: 10.1111/cxo.12977. PMID: 31663163
Besada E, Frauens B
Clin Exp Optom 2020 Mar;103(2):238-240. Epub 2019 May 15 doi: 10.1111/cxo.12920. PMID: 31090083

Clinical prediction guides

Fujimoto S, Kokame GT, Ryan EH, Johnson MW, Hirakata A, Shirriff A, Ishikawa H, Adams OE, Bommakanti N
Ophthalmol Retina 2023 Sep;7(9):811-818. Epub 2023 Jun 2 doi: 10.1016/j.oret.2023.05.020. PMID: 37271192
Michalewska Z, Nawrocka Z, Nawrocki J
Ophthalmol Retina 2020 Sep;4(9):927-937. Epub 2020 Apr 8 doi: 10.1016/j.oret.2020.03.025. PMID: 32595097
Hwang ES, Morgan DJ, Pennington KL, Owen LA, Fingert JH, Bernstein PS, DeAngelis MM
BMC Med Genet 2019 Apr 27;20(1):63. doi: 10.1186/s12881-019-0800-4. PMID: 31029096Free PMC Article
Haruta M, Yamakawa R
Retina 2017 May;37(5):915-920. doi: 10.1097/IAE.0000000000001244. PMID: 27508506
Ooto S, Mittra RA, Ridley ME, Spaide RF
Ophthalmology 2014 Sep;121(9):1727-33. Epub 2014 May 13 doi: 10.1016/j.ophtha.2014.04.006. PMID: 24837239

Recent systematic reviews

Zheng A, Singh RP, Lavine JA
Ophthalmol Retina 2020 Mar;4(3):289-299. Epub 2019 Nov 21 doi: 10.1016/j.oret.2019.10.011. PMID: 31937471

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