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Abnormal retinal nerve fiber layer morphology

MedGen UID:
1691395
•Concept ID:
C5209222
•
Anatomical Abnormality
Synonym: Abnormal retinal nerve fibre layer morphology
 
HPO: HP:0020119

Definition

A structural abnormality of the retinal nerve fiber layer [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal retinal nerve fiber layer morphology

Professional guidelines

PubMed

Evaluation of retinal microcirculation alterations using OCTA in hyperopic ametropic amblyopia patients before and after treatment.
Rao T, Zou W, Hu X, He H, Luo W, You Z
Int Ophthalmol 2023 Sep;43(9):3075-3085. Epub 2023 Apr 21 doi: 10.1007/s10792-023-02707-0. PMID: 37081133Free PMC Article
Defining glaucomatous optic neuropathy using objective criteria from structural and functional testing.
Iyer JV, Boland MV, Jefferys J, Quigley H
Br J Ophthalmol 2021 Jun;105(6):789-793. Epub 2020 Jul 22 doi: 10.1136/bjophthalmol-2020-316237. PMID: 32699052
Patterns of retinal damage facilitate differential diagnosis between Susac syndrome and MS.
Brandt AU, Zimmermann H, Kaufhold F, Promesberger J, Schippling S, Finis D, Aktas O, Geis C, Ringelstein M, Ringelstein EB, Hartung HP, Paul F, Kleffner I, Dörr J
PLoS One 2012;7(6):e38741. Epub 2012 Jun 11 doi: 10.1371/journal.pone.0038741. PMID: 22701702Free PMC Article

Recent clinical studies

Etiology

Longitudinal Changes in Vision and Retinal Morphology in Wolfram Syndrome.
O'Bryhim BE, Samara A, Chen L, Hershey T, Tychsen L, Hoekel J
Am J Ophthalmol 2022 Nov;243:10-18. Epub 2022 Jul 16 doi: 10.1016/j.ajo.2022.07.003. PMID: 35850251
Superior segmental optic nerve hypoplasia: A review.
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
Multiple retinal anomalies in schizophrenia.
Adams SA, Nasrallah HA
Schizophr Res 2018 May;195:3-12. Epub 2017 Jul 27 doi: 10.1016/j.schres.2017.07.018. PMID: 28755877
Intereye Comparison of Cirrus OCT in Early Glaucoma Diagnosis and Detecting Photographic Retinal Nerve Fiber Layer Abnormalities.
Park HY, Shin HY, Yoon JY, Jung Y, Park CK
Invest Ophthalmol Vis Sci 2014 Dec 2;56(3):1733-42. doi: 10.1167/iovs.14-15450. PMID: 25468889
Reduction in retinal nerve fiber layer thickness in young adults with autism spectrum disorders.
Emberti Gialloreti L, Pardini M, Benassi F, Marciano S, Amore M, Mutolo MG, Porfirio MC, Curatolo P
J Autism Dev Disord 2014 Apr;44(4):873-82. doi: 10.1007/s10803-013-1939-z. PMID: 24014196

Diagnosis

Structural and functional changes in the retina in Parkinson's disease.
Alves JN, Westner BU, Højlund A, Weil RS, Dalal SS
J Neurol Neurosurg Psychiatry 2023 Jun;94(6):448-456. Epub 2023 Feb 17 doi: 10.1136/jnnp-2022-329342. PMID: 36806480Free PMC Article
Longitudinal Changes in Vision and Retinal Morphology in Wolfram Syndrome.
O'Bryhim BE, Samara A, Chen L, Hershey T, Tychsen L, Hoekel J
Am J Ophthalmol 2022 Nov;243:10-18. Epub 2022 Jul 16 doi: 10.1016/j.ajo.2022.07.003. PMID: 35850251
Superior segmental optic nerve hypoplasia: A review.
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
Functional characteristics of glaucoma related arcuate defects seen on OCT en face visualisation of the retinal nerve fibre layer.
Ashimatey BS, King BJ, Swanson WH
Ophthalmic Physiol Opt 2021 Mar;41(2):437-446. Epub 2021 Jan 25 doi: 10.1111/opo.12780. PMID: 33492742Free PMC Article
Hemorrhagic Intracranial Cavernoma Presenting as a Homonymous Horizontal Sectoranopia.
Costello FE, Starreveld YP
J Neuroophthalmol 2021 Jun 1;41(2):e225-e227. doi: 10.1097/WNO.0000000000001014. PMID: 32868569

Therapy

Association between retinal nerve fiber layer thickness and psychiatric disorders: a mendelian randomization study.
Fuyi Q, Xiang C, Xinling Z, Zeyi G, Liu Y, Jia W, Qing L, Zhaowei T, Yong Z
BMC Psychiatry 2024 Sep 30;24(1):640. doi: 10.1186/s12888-024-06100-8. PMID: 39350113Free PMC Article
Structural and functional changes in the retina in Parkinson's disease.
Alves JN, Westner BU, Højlund A, Weil RS, Dalal SS
J Neurol Neurosurg Psychiatry 2023 Jun;94(6):448-456. Epub 2023 Feb 17 doi: 10.1136/jnnp-2022-329342. PMID: 36806480Free PMC Article
Longitudinal Changes in Vision and Retinal Morphology in Wolfram Syndrome.
O'Bryhim BE, Samara A, Chen L, Hershey T, Tychsen L, Hoekel J
Am J Ophthalmol 2022 Nov;243:10-18. Epub 2022 Jul 16 doi: 10.1016/j.ajo.2022.07.003. PMID: 35850251
Retinal nerve fiber layer changes in migraine: A protocol for systematic review and meta-analysis.
Lin X, Yi Z, Zhang X, Liu Q, Cai R, Chen C, Zhang H, Zhao P, Pan P
Medicine (Baltimore) 2020 Aug 14;99(33):e21680. doi: 10.1097/MD.0000000000021680. PMID: 32872037Free PMC Article
Retinal Nerve Fiber Layer Protrusion Associated with Tilted Optic Discs.
Chiang J, Yapp M, Ly A, Hennessy MP, Kalloniatis M, Zangerl B
Optom Vis Sci 2018 Mar;95(3):239-246. doi: 10.1097/OPX.0000000000001179. PMID: 29401181Free PMC Article

Prognosis

Myelin Oligodendrocyte Glycoprotein Antibody Disease Optic Neuritis: A Structure-Function Paradox?
Ross R, Kenney R, Balcer LJ, Galetta SL, Krupp L, O'Neill KA, Grossman SN
J Neuroophthalmol 2024 Jun 1;44(2):172-177. Epub 2024 Mar 25 doi: 10.1097/WNO.0000000000002124. PMID: 38526582
Structural and functional changes in the retina in Parkinson's disease.
Alves JN, Westner BU, Højlund A, Weil RS, Dalal SS
J Neurol Neurosurg Psychiatry 2023 Jun;94(6):448-456. Epub 2023 Feb 17 doi: 10.1136/jnnp-2022-329342. PMID: 36806480Free PMC Article
Superior segmental optic nerve hypoplasia: A review.
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
Intereye Comparison of Cirrus OCT in Early Glaucoma Diagnosis and Detecting Photographic Retinal Nerve Fiber Layer Abnormalities.
Park HY, Shin HY, Yoon JY, Jung Y, Park CK
Invest Ophthalmol Vis Sci 2014 Dec 2;56(3):1733-42. doi: 10.1167/iovs.14-15450. PMID: 25468889
Dominant optic atrophy.
Lenaers G, Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P, Milea D
Orphanet J Rare Dis 2012 Jul 9;7:46. doi: 10.1186/1750-1172-7-46. PMID: 22776096Free PMC Article

Clinical prediction guides

Structural and functional changes in the retina in Parkinson's disease.
Alves JN, Westner BU, Højlund A, Weil RS, Dalal SS
J Neurol Neurosurg Psychiatry 2023 Jun;94(6):448-456. Epub 2023 Feb 17 doi: 10.1136/jnnp-2022-329342. PMID: 36806480Free PMC Article
Superior segmental optic nerve hypoplasia: A review.
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
Fibromyalgia syndrome and the eye-A review.
Zdebik N, Zdebik A, Bogusławska J, Przeździecka-Dołyk J, Turno-Kręcicka A
Surv Ophthalmol 2021 Jan-Feb;66(1):132-137. Epub 2020 Jun 5 doi: 10.1016/j.survophthal.2020.05.006. PMID: 32512032
Infantile cystoid maculopathy.
Trese MT, Foos RY
Br J Ophthalmol 1980 Mar;64(3):206-10. doi: 10.1136/bjo.64.3.206. PMID: 7387953Free PMC Article
Septo-optic dysplasia associated with see-saw nystagmus.
Davis GV, Shock JP
Arch Ophthalmol 1975 Feb;93(2):137-9. doi: 10.1001/archopht.1975.01010020143011. PMID: 1115674

Recent systematic reviews

Analysis of Retinal and Choroidal Microvasculature in Systemic Sclerosis Using Optical Coherence Tomography Angiography: A Systematic Review and Meta-Analysis.
Lohrasbi F, Karimi E, Gouravani M, Fooladi Sarabi S, Mafi A, Beikmarzehei A, Sanjari Moghaddam H, Parsaei M, Tabatabaei SM, Arevalo JF
Ophthalmic Res 2025;68(1):23-40. Epub 2024 Nov 4 doi: 10.1159/000542413. PMID: 39496253
Retina as a potential biomarker in schizophrenia spectrum disorders: a systematic review and meta-analysis of optical coherence tomography and electroretinography.
Komatsu H, Onoguchi G, Silverstein SM, Jerotic S, Sakuma A, Kanahara N, Kakuto Y, Ono T, Yabana T, Nakazawa T, Tomita H
Mol Psychiatry 2024 Feb;29(2):464-482. Epub 2023 Dec 11 doi: 10.1038/s41380-023-02340-4. PMID: 38081943Free PMC Article
Could structural changes in the retinal layers be a new biomarker of mental disorders? A systematic review and thematic synthesis.
García-Portilla MP, García-Álvarez L, de la Fuente-Tomás L, Velasco-Iglesias Á, Sáiz PA, González-Blanco L, Bobes Bascarán MT, Baamonde B, Alcalde I, Merayo-Lloves J, Bobes J
Rev Psiquiatr Salud Ment (Engl Ed) 2019 Apr-Jun;12(2):116-129. Epub 2019 Jan 25 doi: 10.1016/j.rpsm.2018.12.001. PMID: 30686701

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