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Hypoplasia of the optic tract

MedGen UID:
347279
Concept ID:
C1856654
Finding
Synonym: Optic tract hypoplasia
 
HPO: HP:0007096

Conditions with this feature

Fryns syndrome
MedGen UID:
65088
Concept ID:
C0220730
Disease or Syndrome
Fryns syndrome is characterized by diaphragmatic defects (diaphragmatic hernia, eventration, hypoplasia, or agenesis); characteristic facial appearance (coarse facies, wide-set eyes, a wide and depressed nasal bridge with a broad nasal tip, long philtrum, low-set and anomalous ears, tented vermilion of the upper lip, wide mouth, and a small jaw); short distal phalanges of the fingers and toes (the nails may also be small); pulmonary hypoplasia; and associated anomalies (polyhydramnios, cloudy corneas and/or microphthalmia, orofacial clefting, renal dysplasia / renal cortical cysts, and/or malformations involving the brain, cardiovascular system, gastrointestinal system, and/or genitalia). Survival beyond the neonatal period is rare. Data on postnatal growth and psychomotor development are limited; however, severe developmental delay and intellectual disability are common.

Professional guidelines

PubMed

Damaj L, Bruneau B, Ferry M, Moutard ML, Garel C, Odent S, Adamsbaum C, Avni F, Tréguier C, Lazaro L
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Am J Hum Genet 2006 Feb;78(2):303-14. Epub 2005 Dec 29 doi: 10.1086/500273. PMID: 16400610Free PMC Article
Harding AE
Brain 1981 Sep;104(3):589-620. doi: 10.1093/brain/104.3.589. PMID: 7272714

Recent clinical studies

Etiology

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
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
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
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
Brambrink AM, Braun U
Best Pract Res Clin Anaesthesiol 2005 Dec;19(4):675-97. doi: 10.1016/j.bpa.2005.07.002. PMID: 16408541

Diagnosis

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
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
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
Lewis DD, Woods SE
Am Fam Physician 1994 Oct;50(5):1025-32, 1035-6. PMID: 7942401
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

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
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
Harrison DM, Shiee N, Bazin PL, Newsome SD, Ratchford JN, Pham D, Calabresi PA, Reich DS
J Neurol 2013 Feb;260(2):397-406. Epub 2012 Aug 12 doi: 10.1007/s00415-012-6638-8. PMID: 22886062Free PMC Article
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
Swaiman KF
Arch Neurol 1991 Dec;48(12):1285-93. doi: 10.1001/archneur.1991.00530240091029. PMID: 1845035

Prognosis

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
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
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
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
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

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
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
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
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
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

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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