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Biometry, optical coherence tomography, and further clinical observations in Knobloch syndrome.
AlBakri A, Ghazi NG, Khan AO. AlBakri A, et al. Ophthalmic Genet. 2017 Mar-Apr;38(2):138-142. doi: 10.3109/13816810.2016.1164197. Epub 2016 Apr 18. Ophthalmic Genet. 2017. PMID: 27088344
Whether myopia in Knobloch syndrome is axial or lenticular is unclear. Also not known are the optical coherence tomography (OCT) correlates to the distinct fundus appearance. In this study we assess cycloplegic refraction, biometry, and macular spectral domain (SD) …
Whether myopia in Knobloch syndrome is axial or lenticular is unclear. Also not known are the optical coherence tomography (OC …
Knobloch syndrome - a rare collagenopathy, revealing peripheral avascular retina.
Maitra P, Shah PK, S P, Das A, V N. Maitra P, et al. Ophthalmic Genet. 2023 Dec;44(6):618-622. doi: 10.1080/13816810.2023.2188226. Epub 2023 Mar 30. Ophthalmic Genet. 2023. PMID: 36994995
Genetic testing revealed pathogenic mutation in COL 18A1 suggestive of Knobloch syndrome in the baby, and both parents were found to be carriers of the same mutation. However, brain MRI showed features not pathognomonic of Knobloch syndrome. CONCLUSION …
Genetic testing revealed pathogenic mutation in COL 18A1 suggestive of Knobloch syndrome in the baby, and both parents were fo …
Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2.
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. Antonarakis SE, et al. Hum Mol Genet. 2021 Dec 17;31(1):1-9. doi: 10.1093/hmg/ddab026. Hum Mol Genet. 2021. PMID: 33693784
Knobloch syndrome is an autosomal recessive phenotype mainly characterized by retinal detachment and encephalocele caused by biallelic pathogenic variants in the COL18A1 gene. However, there are patients clinically diagnosed as Knobloch syndrome with u …
Knobloch syndrome is an autosomal recessive phenotype mainly characterized by retinal detachment and encephalocele caused by b …
Mutations in the COL18A1 gen associated with knobloch syndrome and structural brain anomalies: a novel case report and literature review of neuroimaging findings.
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. Irene Díez García-Prieto I, et al. Neurocase. 2022 Feb;28(1):11-18. doi: 10.1080/13554794.2021.1928228. Epub 2022 Mar 6. Neurocase. 2022. PMID: 35253627 Review.
. COL18A1 gene mutations have been associated with Knobloch syndrome, which is characterized by ocular and brain abnormalities. ...Low levels of collagen XVIII were also observed in the patients serum. Thus, biallelic loss-of-function mutations in COL18A1 may …
. COL18A1 gene mutations have been associated with Knobloch syndrome, which is characterized by ocular and brain abnormalities …
Knobloch syndrome associated with Polymicrogyria and early onset of retinal detachment: two case reports.
White RJ, Wang Y, Tang P, Montezuma SR. White RJ, et al. BMC Ophthalmol. 2017 Nov 25;17(1):214. doi: 10.1186/s12886-017-0615-z. BMC Ophthalmol. 2017. PMID: 29178892 Free PMC article.
BACKGROUND: Knobloch Syndrome (KS) is a rare congenital syndrome characterized by occipital skull defects and vitreoretinal degeneration. ...CONCLUSIONS: Although several families with KS have been described previously, our case is noteworthy for several reasons. Th …
BACKGROUND: Knobloch Syndrome (KS) is a rare congenital syndrome characterized by occipital skull defects and vitreoretinal de …
Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2.
Khaliq S, Abid A, White DR, Johnson CA, Ismail M, Khan A, Ayub Q, Sultana S, Maher ER, Mehdi SQ. Khaliq S, et al. Am J Med Genet A. 2007 Dec 1;143A(23):2768-74. doi: 10.1002/ajmg.a.31739. Am J Med Genet A. 2007. PMID: 17975799
Knobloch syndrome (KNO) is an autosomal recessive disorder characterized by ocular abnormalities (myopia and retinal detachment) and occipital encephalocele. ...Due to the overlapping clinical presentation of this family with Knobloch syndrome we propo …
Knobloch syndrome (KNO) is an autosomal recessive disorder characterized by ocular abnormalities (myopia and retinal detachmen …
Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome).
Sertié AL, Sossi V, Camargo AA, Zatz M, Brahe C, Passos-Bueno MR. Sertié AL, et al. Hum Mol Genet. 2000 Aug 12;9(13):2051-8. doi: 10.1093/hmg/9.13.2051. Hum Mol Genet. 2000. PMID: 10942434
Knobloch syndrome (KS) is an autosomal recessive disorder defined by the occurrence of high myopia, vitreoretinal degeneration with retinal detachment, macular abnormalities and occipital encephalocele. ...We identified a homozygous mutation at the AG consensus acce …
Knobloch syndrome (KS) is an autosomal recessive disorder defined by the occurrence of high myopia, vitreoretinal degeneration …
COL18A1 is a candidate eye iridocorneal angle-closure gene in humans.
Suri F, Yazdani S, Chapi M, Safari I, Rasooli P, Daftarian N, Jafarinasab MR, Ghasemi Firouzabadi S, Alehabib E, Darvish H, Klotzle B, Fan JB, Turk C, Elahi E. Suri F, et al. Hum Mol Genet. 2018 Nov 1;27(21):3772-3786. doi: 10.1093/hmg/ddy256. Hum Mol Genet. 2018. PMID: 30007336
Results of linkage analysis, segregation analysis of 44 novel variations, whole exome sequencing of 10 individuals, screenings of controls and bioinformatics predictions identified a mutation in COL18A1 that encodes collagen type XVIII as the most likely cause of angle clo …
Results of linkage analysis, segregation analysis of 44 novel variations, whole exome sequencing of 10 individuals, screenings of controls a …
Intraoperative discovery of lens dislocation in a child with Knobloch syndrome.
Gammeltoft E, Alsuradi A, Trivedi RH, Wilson ME. Gammeltoft E, et al. J AAPOS. 2023 Aug;27(4):226-228. doi: 10.1016/j.jaapos.2023.04.009. Epub 2023 Jun 9. J AAPOS. 2023. PMID: 37302726
We present the case of a 14-year-old boy with a known diagnosis of Knobloch syndrome (KS) referred for bilateral cataract evaluation and possible cataract surgery. ...The left eye did not have subluxated lens; however, intraoperatively, after irrigation into the eye …
We present the case of a 14-year-old boy with a known diagnosis of Knobloch syndrome (KS) referred for bilateral cataract eval …
Endostatin phenylalanines 31 and 34 define a receptor binding site.
Stahl S, Gaetzner S, Mueller TD, Felbor U. Stahl S, et al. Genes Cells. 2005 Sep;10(9):929-39. doi: 10.1111/j.1365-2443.2005.00890.x. Genes Cells. 2005. PMID: 16115201 Free article.
Endostatin is derived from collagen XVIII's C-terminal domain and deleted or truncated in most patients suffering from Knobloch syndrome blindness. To evaluate the functional significance of two surface-exposed hydrophobic phenylalanines at positions 31 and 34 of en …
Endostatin is derived from collagen XVIII's C-terminal domain and deleted or truncated in most patients suffering from Knobloch sy …
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