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Abnormal optic nerve morphology

MedGen UID:
472883
Concept ID:
C0029131
Anatomical Abnormality; Finding
Synonym: Abnormality of the optic nerve
 
HPO: HP:0000587

Definition

Abnormality of the optic nerve. [from HPO]

Conditions with this feature

Bohring-Opitz syndrome
MedGen UID:
208678
Concept ID:
C0796232
Disease or Syndrome
Bohring-Opitz syndrome (BOS) is characterized by distinctive facial features and posture, growth failure, variable but usually severe intellectual disability, and variable anomalies. The facial features may include microcephaly or trigonocephaly / prominent (but not fused) metopic ridge, hypotonic facies with full cheeks, synophrys, glabellar and eyelid nevus flammeus (simplex), prominent globes, widely set eyes, palate anomalies, and micrognathia. The BOS posture, which is most striking in early childhood and often becomes less apparent with age, is characterized by flexion at the elbows with ulnar deviation and flexion of the wrists and metacarpophalangeal joints. Feeding difficulties in early childhood, including cyclic vomiting, have a significant impact on overall health; feeding tends to improve with age. Seizures are common and typically responsive to standard epileptic medications. Minor cardiac anomalies and transient bradycardia and apnea may be present. Affected individuals may experience recurrent infections, which also tend to improve with age. Isolated case reports suggest that individuals with BOS are at greater risk for Wilms tumor than the general population, but large-scale epidemiologic studies have not been conducted.
Cone-rod dystrophy 8
MedGen UID:
381360
Concept ID:
C1854180
Disease or Syndrome
A cone-rod dystrophy that has material basis in variation in the chromosome region 1q12-q24.

Professional guidelines

PubMed

Wang MTM, Meyer JA, Danesh-Meyer HV
Eye (Lond) 2024 Aug;38(12):2279-2288. Epub 2024 Jul 22 doi: 10.1038/s41433-024-03187-x. PMID: 39039214Free PMC Article
Wan R, Chang A
Clin Exp Optom 2020 Jul;103(4):425-429. Epub 2019 Aug 22 doi: 10.1111/cxo.12957. PMID: 31441129
Margolin E
Pract Neurol 2019 Aug;19(4):302-309. Epub 2019 Jun 13 doi: 10.1136/practneurol-2018-002057. PMID: 31196885

Recent clinical studies

Etiology

Jiang J, Song Y, Kong K, Wang P, Lin F, Gao X, Wang Z, Jin L, Chen M, Lam DSC, Weinreb RN, Jonas JB, Ohno-Matsui K, Chen S, Zhang X; Glaucoma Suspects with High Myopia Study Group
Asia Pac J Ophthalmol (Phila) 2023 Sep-Oct 01;12(5):460-467. Epub 2023 Sep 22 doi: 10.1097/APO.0000000000000636. PMID: 37851563
Padhy B, Alone DP
J Biosci 2021;46 PMID: 34785624
Lecler A, Attye A, Edelson C
J Neuroophthalmol 2018 Sep;38(3):344-346. doi: 10.1097/WNO.0000000000000650. PMID: 29561327
Solebo AL, Teoh L, Rahi J
Arch Dis Child 2017 Sep;102(9):853-857. Epub 2017 May 2 doi: 10.1136/archdischild-2016-310532. PMID: 28465303
Martín-Begué N, Saint-Gerons M
Arch Soc Esp Oftalmol 2016 Dec;91(12):577-588. Epub 2016 Jul 1 doi: 10.1016/j.oftal.2016.05.010. PMID: 27378455

Diagnosis

Cruz AAV, Akaishi PMS, Bernardini F, Chahud F
Ophthalmic Plast Reconstr Surg 2021 May-Jun 01;37(3):e109-e111. doi: 10.1097/IOP.0000000000001864. PMID: 33229952
Margolin E
Pract Neurol 2019 Aug;19(4):302-309. Epub 2019 Jun 13 doi: 10.1136/practneurol-2018-002057. PMID: 31196885
Kumar V, Karunakaran A, Valakada J
Int Ophthalmol 2018 Feb;38(1):337-338. Epub 2017 Jan 3 doi: 10.1007/s10792-016-0437-7. PMID: 28050731
Fard MA, Wu-Chen WY, Man BL, Miller NR
Pediatr Endocrinol Rev 2010 Sep;8(1):18-24. PMID: 21037540
Witmer MT, Margo CE, Drucker M
Surv Ophthalmol 2010 Sep-Oct;55(5):403-28. Epub 2010 Jul 10 doi: 10.1016/j.survophthal.2010.01.002. PMID: 20621322

Therapy

Gorgogietas V, Rajaei B, Heeyoung C, Santacreu BJ, Marín-Cañas S, Salpea P, Sawatani T, Musuaya A, Arroyo MN, Moreno-Castro C, Benabdallah K, Demarez C, Toivonen S, Cosentino C, Pachera N, Lytrivi M, Cai Y, Carnel L, Brown C, Urano F, Marchetti P, Gilon P, Eizirik DL, Cnop M, Igoillo-Esteve M
Diabetologia 2023 Jul;66(7):1306-1321. Epub 2023 Mar 30 doi: 10.1007/s00125-023-05905-8. PMID: 36995380Free PMC Article
Moore NA, Morral N, Ciulla TA, Bracha P
Expert Opin Biol Ther 2018 Jan;18(1):37-49. Epub 2017 Oct 23 doi: 10.1080/14712598.2018.1389886. PMID: 29057663
Orija IB, Weil RJ, Hamrahian AH
Best Pract Res Clin Endocrinol Metab 2012 Feb;26(1):47-68. doi: 10.1016/j.beem.2011.07.003. PMID: 22305452
Leocani L, Comi G
Neurol Sci 2008 Sep;29 Suppl 2:S218-21. doi: 10.1007/s10072-008-0942-1. PMID: 18690497
Kass MA, Heuer DK, Higginbotham EJ, Johnson CA, Keltner JL, Miller JP, Parrish RK 2nd, Wilson MR, Gordon MO
Arch Ophthalmol 2002 Jun;120(6):701-13; discussion 829-30. doi: 10.1001/archopht.120.6.701. PMID: 12049574

Prognosis

Wu JH, Lin CW, Liu CH, Weinreb RN, Welsbie DS
Surv Ophthalmol 2022 Sep-Oct;67(5):1467-1475. Epub 2022 Feb 18 doi: 10.1016/j.survophthal.2022.02.008. PMID: 35189184
Dhanapalaratnam R, Markoulli M, Krishnan AV
Clin Exp Optom 2022 Jan;105(1):3-12. Epub 2021 Aug 4 doi: 10.1080/08164622.2021.1947745. PMID: 34348598
Thomas MG, Papageorgiou E, Kuht HJ, Gottlob I
Br J Ophthalmol 2022 May;106(5):593-599. Epub 2020 Nov 4 doi: 10.1136/bjophthalmol-2020-316348. PMID: 33148537
Lecler A, Attye A, Edelson C
J Neuroophthalmol 2018 Sep;38(3):344-346. doi: 10.1097/WNO.0000000000000650. PMID: 29561327
Witmer MT, Margo CE, Drucker M
Surv Ophthalmol 2010 Sep-Oct;55(5):403-28. Epub 2010 Jul 10 doi: 10.1016/j.survophthal.2010.01.002. PMID: 20621322

Clinical prediction guides

Jiang J, Song Y, Kong K, Wang P, Lin F, Gao X, Wang Z, Jin L, Chen M, Lam DSC, Weinreb RN, Jonas JB, Ohno-Matsui K, Chen S, Zhang X; Glaucoma Suspects with High Myopia Study Group
Asia Pac J Ophthalmol (Phila) 2023 Sep-Oct 01;12(5):460-467. Epub 2023 Sep 22 doi: 10.1097/APO.0000000000000636. PMID: 37851563
Aksu Uzunhan T, Ertürk B, Aydın K, Ayaz A, Altunoğlu U, Yarar MH, Gezdirici A, İçağasıoğlu DF, Gökpınar İli E, Uyanık B, Eser M, Kutbay YB, Topçu Y, Kılıç B, Bektaş G, Arduç Akçay A, Ekici B, Chousein A, Avcı Ş, Yüksel A, Kayserili H
Clin Neurol Neurosurg 2023 Jan;224:107560. Epub 2022 Dec 13 doi: 10.1016/j.clineuro.2022.107560. PMID: 36580738
Wu JH, Lin CW, Liu CH, Weinreb RN, Welsbie DS
Surv Ophthalmol 2022 Sep-Oct;67(5):1467-1475. Epub 2022 Feb 18 doi: 10.1016/j.survophthal.2022.02.008. PMID: 35189184
Dhanapalaratnam R, Markoulli M, Krishnan AV
Clin Exp Optom 2022 Jan;105(1):3-12. Epub 2021 Aug 4 doi: 10.1080/08164622.2021.1947745. PMID: 34348598
Sergott RC
J Neuroophthalmol 2014 Sep;34 Suppl:S24-8. doi: 10.1097/WNO.0000000000000164. PMID: 25133967

Recent systematic reviews

Orellana-Donoso M, Romero-Zucchino D, Fuentes-Abarca A, Aravena-Ríos P, Sanchis-Gimeno J, Konschake M, Nova-Baeza P, Valenzuela-Fuenzalida JJ
Surg Radiol Anat 2024 Jul;46(7):1027-1046. Epub 2024 Apr 29 doi: 10.1007/s00276-024-03348-3. PMID: 38684553
Shah A, Bapna M, Al-Saif H, Li R, Couser NL
Ophthalmic Genet 2022 Feb;43(1):126-129. Epub 2021 Oct 20 doi: 10.1080/13816810.2021.1989601. PMID: 34670449
Zhang Z, Yu M, Wang F, Dai Y, Wu Z
J Glaucoma 2016 May;25(5):e446-54. doi: 10.1097/IJG.0000000000000275. PMID: 25943737
Tan T, Tee JW, Trost N, McKelvie P, Wang YY
J Clin Neurosci 2015 Feb;22(2):258-67. Epub 2014 Nov 11 doi: 10.1016/j.jocn.2014.07.027. PMID: 25439746
Garcia-Filion P, Borchert M
Surv Ophthalmol 2013 Nov-Dec;58(6):610-9. doi: 10.1016/j.survophthal.2013.02.004. PMID: 24160732Free PMC Article

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