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Aplasia of the optic tract

MedGen UID:
869181
•Concept ID:
C4023603
•
Anatomical Abnormality
Synonym: Absent optic tract
 
HPO: HP:0010999

Conditions with this feature

Microphthalmia with brain and digit anomalies
MedGen UID:
355268
•Concept ID:
C1864689
•
Disease or Syndrome
This syndrome has characteristics of anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.
See: Condition Record
Microphthalmia with brain and digit anomalies

Professional guidelines

PubMed

Pediatric outcome of children with the prenatal diagnosis of isolated septal agenesis.
Damaj L, Bruneau B, Ferry M, Moutard ML, Garel C, Odent S, Adamsbaum C, Avni F, Tréguier C, Lazaro L
Prenat Diagn 2010 Dec;30(12-13):1143-50. doi: 10.1002/pd.2628. PMID: 20936603
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.
Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, Davenport SL, Graham JM, Bacino CA, Glass NL, Towbin JA, Craigen WJ, Neish SR, Lin AE, Belmont JW
Am J Hum Genet 2006 Feb;78(2):303-14. Epub 2005 Dec 29 doi: 10.1086/500273. PMID: 16400610Free PMC Article
Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features.
Harding AE
Brain 1981 Sep;104(3):589-620. doi: 10.1093/brain/104.3.589. PMID: 7272714

Recent clinical studies

Etiology

Atypical Optic Neuritis: The Potential Red Flags.
Ojha PT, Barvalia PP, Singh R, Soni G, Kadam N, Nagendra S, Aglave V, Jagiasi K
Neurol India 2022 Sep-Oct;70(5):1982-1987. doi: 10.4103/0028-3886.359189. PMID: 36352598
Evaluation of Retinal and Optic Disc Vascular Changes and Retinal Nerve Fiber Layer Thickness in Patients with Nasopharyngeal Carcinoma Following Image Guided Intensity-Modulated Radiation Therapy Using Optical Coherence Tomography Angiography.
Dağdelen M, Akbaş ZŞ, Barlas C, Can G, Arıcı C, Uzel Ö
Photodiagnosis Photodyn Ther 2022 Jun;38:102887. Epub 2022 Apr 28 doi: 10.1016/j.pdpdt.2022.102887. PMID: 35490961
Patterns of white and gray structural abnormality associated with paediatric demyelinating disorders.
Bells S, Longoni G, Berenbaum T, de Medeiros CB, Narayanan S, Banwell BL, Arnold DL, Mabbott DJ, Ann Yeh E
Neuroimage Clin 2022;34:103001. Epub 2022 Mar 31 doi: 10.1016/j.nicl.2022.103001. PMID: 35381508Free PMC Article
Tracking posttraumatic hemianopia.
Decramer T, Van Keer K, Stalmans P, Dupont P, Sunaert S, Theys T
J Neurol 2018 Jan;265(1):41-45. Epub 2017 Nov 6 doi: 10.1007/s00415-017-8661-2. PMID: 29110092
The evolution and progress of ureteroscopy.
Johnston WK 3rd, Low RK, Das S
Urol Clin North Am 2004 Feb;31(1):5-13. doi: 10.1016/S0094-0143(03)00100-9. PMID: 15040396

Diagnosis

Neuro-ophthalmological manifestations of sarcoidosis.
Yates WB, McCluskey PJ, Fraser CL
J Neuroimmunol 2022 Jun 15;367:577851. Epub 2022 Mar 26 doi: 10.1016/j.jneuroim.2022.577851. PMID: 35405430
Wolfram Syndrome 1: From Genetics to Therapy.
Rigoli L, Caruso V, Salzano G, Lombardo F
Int J Environ Res Public Health 2022 Mar 9;19(6) doi: 10.3390/ijerph19063225. PMID: 35328914Free PMC Article
Disorders of vision in multiple sclerosis.
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
Fetal alcohol syndrome.
Lewis DD, Woods SE
Am Fam Physician 1994 Oct;50(5):1025-32, 1035-6. PMID: 7942401
Congenital syphilis.
Boot JM, Oranje AP, de Groot R, Tan G, Stolz E
Int J STD AIDS 1992 May-Jun;3(3):161-7. doi: 10.1177/095646249200300302. PMID: 1616961

Therapy

Evaluation of Retinal and Optic Disc Vascular Changes and Retinal Nerve Fiber Layer Thickness in Patients with Nasopharyngeal Carcinoma Following Image Guided Intensity-Modulated Radiation Therapy Using Optical Coherence Tomography Angiography.
Dağdelen M, Akbaş ZŞ, Barlas C, Can G, Arıcı C, Uzel Ö
Photodiagnosis Photodyn Ther 2022 Jun;38:102887. Epub 2022 Apr 28 doi: 10.1016/j.pdpdt.2022.102887. PMID: 35490961
Wolfram Syndrome. Case report.
Tarała W, Drachal E, Mazur A, Korczowski B, Szadkowska A, Zmysłowska A, Młynarski W
Pediatr Endocrinol Diabetes Metab 2016;22(1):39-42. doi: 10.18544/PEDM-22.01.0049. PMID: 28132072
Visually guided male urinary catheterization: a feasibility study.
Willette PA, Banks K, Shaffer L
J Emerg Nurs 2013 Jan;39(1):27-32. Epub 2011 Sep 19 doi: 10.1016/j.jen.2011.07.009. PMID: 21937096
Diffuse granulomatous necrotizing scleritis.
Pecorella I, La Cava M, Mannino G, Pinca M, Pezzi PP
Acta Ophthalmol Scand 2006 Apr;84(2):263-5. doi: 10.1111/j.1600-0420.2005.00571.x. PMID: 16637849
Hallervorden-Spatz syndrome and brain iron metabolism.
Swaiman KF
Arch Neurol 1991 Dec;48(12):1285-93. doi: 10.1001/archneur.1991.00530240091029. PMID: 1845035

Prognosis

ATP1A3-related phenotypes in Chinese children: AHC, CAPOS, and RECA.
Huang D, Song X, Ma J, Li X, Guo Y, Li M, Luo H, Fang Z, Yang C, Xie L, Jiang L
Eur J Pediatr 2023 Feb;182(2):825-836. Epub 2022 Dec 9 doi: 10.1007/s00431-022-04744-w. PMID: 36484864
Wolfram Syndrome 1: From Genetics to Therapy.
Rigoli L, Caruso V, Salzano G, Lombardo F
Int J Environ Res Public Health 2022 Mar 9;19(6) doi: 10.3390/ijerph19063225. PMID: 35328914Free PMC Article
Disorders of vision in multiple sclerosis.
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
Tracking posttraumatic hemianopia.
Decramer T, Van Keer K, Stalmans P, Dupont P, Sunaert S, Theys T
J Neurol 2018 Jan;265(1):41-45. Epub 2017 Nov 6 doi: 10.1007/s00415-017-8661-2. PMID: 29110092
Branches and arterial supply of the recurrent artery of Heubner.
Maga P, Tomaszewski KA, Krzyżewski RM, Golec J, Depukat P, Gregorczyk-Maga I, Skrzat J
Anat Sci Int 2013 Sep;88(4):223-9. Epub 2013 Jul 17 doi: 10.1007/s12565-013-0192-z. PMID: 23860669

Clinical prediction guides

Objective Assessment of Visual Field Defects Caused by Optic Chiasm and Its Posterior Visual Pathway Injury.
Xiang J, Wang X, Yu LL, Jin KJ, Yang YK
Fa Yi Xue Za Zhi 2023 Aug 25;39(4):350-359. doi: 10.12116/j.issn.1004-5619.2023.230309. PMID: 37859473
Atypical Optic Neuritis: The Potential Red Flags.
Ojha PT, Barvalia PP, Singh R, Soni G, Kadam N, Nagendra S, Aglave V, Jagiasi K
Neurol India 2022 Sep-Oct;70(5):1982-1987. doi: 10.4103/0028-3886.359189. PMID: 36352598
Disorders of vision in multiple sclerosis.
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
Clinical and genetic variability of PAX2-related disorder in the Japanese population.
Rossanti R, Morisada N, Nozu K, Kamei K, Horinouchi T, Yamamura T, Minamikawa S, Fujimura J, Nagano C, Sakakibara N, Ninchoji T, Kaito H, Ito S, Tanaka R, Iijima K
J Hum Genet 2020 Jun;65(6):541-549. Epub 2020 Mar 16 doi: 10.1038/s10038-020-0741-y. PMID: 32203253
SOX2 anophthalmia syndrome.
Ragge NK, Lorenz B, Schneider A, Bushby K, de Sanctis L, de Sanctis U, Salt A, Collin JR, Vivian AJ, Free SL, Thompson P, Williamson KA, Sisodiya SM, van Heyningen V, Fitzpatrick DR
Am J Med Genet A 2005 May 15;135(1):1-7; discussion 8. doi: 10.1002/ajmg.a.30642. PMID: 15812812

Recent systematic reviews

Single-use versus conventional reusable flexible ureteroscopes - an evaluation of the functional parameters.
Bragaru M, Multescu R, Georgescu D, Bulai C, Ene C, Popescu R, Geavlete P, Geavlete B
J Med Life 2023 Jan;16(1):10-15. doi: 10.25122/jml-2022-0269. PMID: 36873117Free PMC Article

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