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Knobloch syndrome(KNO)

MedGen UID:
336594
Concept ID:
C1849409
Disease or Syndrome
Synonyms: KNO; Myopia retinal detachment encephalocele; RETINAL DETACHMENT AND OCCIPITAL ENCEPHALOCELE
SNOMED CT: Retinal detachment and occipital encephalocele (703542000); Knobloch syndrome (703542000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Related genes: COL18A1, PAK2
 
Monarch Initiative: MONDO:0800166
OMIM®: 267750
OMIM® Phenotypic series: PS267750
Orphanet: ORPHA1571

Definition

Knobloch syndrome is defined by vitreoretinal and macular degeneration, and occipital encephalocele. The disease has characteristics of early-onset severe myopia (usually becoming apparent in the first year of life), vitreoretinal degeneration with retinal detachment, macular abnormalities, and midline encephalocele (mainly in the occipital region). The syndrome is clinically and genetically heterogeneous with three forms, KNO1, KNO2 and KNO3, being defined. KNO1 is caused by inactivating mutations in the collagen XVIII/endostatin gene (COL18A1) mapped to 21q22.3. The KNO2 form was defined when linkage to the KNO1 locus was excluded in a family reported from New Zealand. Recently, a novel type of KS (KNO3) was mapped to chromosome 17q11.2. Inherited as an autosomal recessive trait. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Knobloch syndrome in Orphanet.

Recent clinical studies

Etiology

Maitra P, Shah PK, S P, Das A, V N
Ophthalmic Genet 2023 Dec;44(6):618-622. Epub 2023 Mar 30 doi: 10.1080/13816810.2023.2188226. PMID: 36994995
Dumitrescu AV, Pfeifer WL, Drack AV
J AAPOS 2021 Aug;25(4):220.e1-220.e8. Epub 2021 Jul 17 doi: 10.1016/j.jaapos.2021.03.015. PMID: 34280564
Wawrzynski J, Than J, Gillam M, Foster PJ
J Glaucoma 2021 May 1;30(5):e265-e268. doi: 10.1097/IJG.0000000000001781. PMID: 33449584
Levinger N, Hendler K, Banin E, Hanany M, Kimchi A, Mechoulam H, Meiner V, Parag Y, Sharon D, Macarov M, Yahalom C
Eur J Ophthalmol 2021 Nov;31(6):3349-3354. Epub 2020 Nov 25 doi: 10.1177/1120672120977343. PMID: 33238767
Cohen MM Jr, Lemire RJ
Teratology 1982 Apr;25(2):161-72. doi: 10.1002/tera.1420250206. PMID: 7101196

Diagnosis

Maitra P, Shah PK, S P, Das A, V N
Ophthalmic Genet 2023 Dec;44(6):618-622. Epub 2023 Mar 30 doi: 10.1080/13816810.2023.2188226. PMID: 36994995
Patel CK, Broadgate S, Shalaby A, Yu J, Nemeth AH, Downes SM, Halford S
Ophthalmic Genet 2022 Apr;43(2):201-209. Epub 2021 Nov 9 doi: 10.1080/13816810.2021.1998554. PMID: 34751625
Dumitrescu AV, Pfeifer WL, Drack AV
J AAPOS 2021 Aug;25(4):220.e1-220.e8. Epub 2021 Jul 17 doi: 10.1016/j.jaapos.2021.03.015. PMID: 34280564
Levinger N, Hendler K, Banin E, Hanany M, Kimchi A, Mechoulam H, Meiner V, Parag Y, Sharon D, Macarov M, Yahalom C
Eur J Ophthalmol 2021 Nov;31(6):3349-3354. Epub 2020 Nov 25 doi: 10.1177/1120672120977343. PMID: 33238767
Thau A, Tsukikawa M, Wangtiraumnuay N, Capasso J, Affel E, Alnabi WA, Adam M, Alsulaiman SM, Spirn M, Levin AV
Ophthalmic Surg Lasers Imaging Retina 2019 Aug 1;50(8):e203-e210. doi: 10.3928/23258160-20190806-13. PMID: 31415705

Therapy

Alsulaiman SM, Al-Abdullah AA, Alakeely A, Aldhibi H, Engelbrecht L, Ghazi NG, Mura M
Ophthalmol Retina 2020 May;4(5):498-503. Epub 2019 Dec 12 doi: 10.1016/j.oret.2019.12.004. PMID: 32111543
Al-Beshri AS, Kozak I, Craven ER
Middle East Afr J Ophthalmol 2018 Jul-Dec;25(3-4):161-162. doi: 10.4103/meajo.MEAJO_263_17. PMID: 30765955Free PMC Article

Prognosis

Antonarakis SE, Holoubek A, Rapti M, Rademaker J, Meylan J, Iwaszkiewicz J, Zoete V, Wilson C, Taylor J, Ansar M, Borel C, Menzel O, Kuželová K, Santoni FA
Hum Mol Genet 2021 Dec 17;31(1):1-9. doi: 10.1093/hmg/ddab026. PMID: 33693784
Balikova I, Sanak NS, Fanny D, Smits G, Soblet J, de Baere E, Cordonnier M
Ophthalmic Genet 2020 Feb;41(1):83-87. Epub 2020 Mar 17 doi: 10.1080/13816810.2020.1737948. PMID: 32178553
Al-Beshri AS, Kozak I, Craven ER
Middle East Afr J Ophthalmol 2018 Jul-Dec;25(3-4):161-162. doi: 10.4103/meajo.MEAJO_263_17. PMID: 30765955Free PMC Article
Khan AO, Ghazi NG
Ophthalmic Genet 2018 Jun;39(3):321-324. Epub 2018 Feb 1 doi: 10.1080/13816810.2018.1430245. PMID: 29388841
Chen CP
Taiwan J Obstet Gynecol 2008 Sep;47(3):259-66. doi: 10.1016/S1028-4559(08)60122-9. PMID: 18935987

Clinical prediction guides

Maitra P, Shah PK, S P, Das A, V N
Ophthalmic Genet 2023 Dec;44(6):618-622. Epub 2023 Mar 30 doi: 10.1080/13816810.2023.2188226. PMID: 36994995
Irene Díez García-Prieto I, Lopez-Martín S, Albert J, Jiménez de la Peña M, Fernández-Mayoralas DM, Calleja-Pérez B, Gómez Fernández MT, Álvarez S, Pihlajaniemi T, Izzi V, Fernández-Jaén A
Neurocase 2022 Feb;28(1):11-18. Epub 2022 Mar 6 doi: 10.1080/13554794.2021.1928228. PMID: 35253627
Antonarakis SE, Holoubek A, Rapti M, Rademaker J, Meylan J, Iwaszkiewicz J, Zoete V, Wilson C, Taylor J, Ansar M, Borel C, Menzel O, Kuželová K, Santoni FA
Hum Mol Genet 2021 Dec 17;31(1):1-9. doi: 10.1093/hmg/ddab026. PMID: 33693784
White RJ, Wang Y, Tang P, Montezuma SR
BMC Ophthalmol 2017 Nov 25;17(1):214. doi: 10.1186/s12886-017-0615-z. PMID: 29178892Free PMC Article
AlBakri A, Ghazi NG, Khan AO
Ophthalmic Genet 2017 Mar-Apr;38(2):138-142. Epub 2016 Apr 18 doi: 10.3109/13816810.2016.1164197. PMID: 27088344

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