Diagnosis (Grus, F.H., Joachim, S.C., Sandmann, S., Thiel, U.,

Diagnosis of PCG is largely
clinical, and the molecular mechanisms underlying the responsible genetic
defects are not clearly understood so far. The concept of biological markers,
many of which are proteins, has facilitated and improved the accuracy of disease
diagnosis in recent years as well as directing treatment regimens in some cases
(Pandey A, Mann M. Proteomics to study genes and genomes. Nature.2000 Jun
15;405(6788):837-46.). Indeed, relative quantification of protein expression
has been made possible through gel-based and gel-free techniques of protein
analysis using mass spectrometry and isotope labeling-based or label-free
techniques. The aim of the current study was to characterise the protein
content of AH in eyes with PCG. A preliminary report is presented herein. The
study identified 109 protein peaks of which 63 % were different between PCG
patients and controls. There have been published reports about the protein
content of AH in primary open angle glaucoma, uveitic glaucoma and myopia (Grus,
F.H., Joachim, S.C., Sandmann, S., Thiel, U., Bruns, K., Lackner, K.J.,
Pfeiffer, N.,2008.Transthyretin and complex protein pattern in aqueous humor of
patients with primary open-angle glaucoma. Mol. Vis. 14, 1437e1445., Ladas,
J.G., Yu, F., Loo, R., Davis, J.L., Coleman, A.L., Levinson, R.D., Holland,
G.N., 2001. Relationship between aqueous humor protein level and outflow
facility in patients with uveitis. Invest. Ophthalmol. Vis. Sci. 42,
2584e2588., Mackay, E.O., Kallberg, M.E., Gelatt, K.N., 2008. Aqueous humor
myocilin protein levels in normal, genetic carriers, and glaucoma Beagles. Vet.
Ophthalmol. 11, 177e185., Duan, X., Lu, Q., Xue, P., Zhang, H., Dong, Z., Yang,
F., Wang, N., 2008. Proteomic analysis of aqueous humor from patients with
myopia. Mol. Vis. 14, 370e377., Kliuchnikova AA, Samokhina NI, Ilina IY, Karpov
DS, Pyatnitskiy MA, Kuznetsova KG, Toropygin IY, Kochergin SA, Alekseev IB,
Zgoda VG, Archakov AI, Moshkovskii SA. Human aqueous humor proteome in
cataract, glaucoma, and pseudoexfoliation syndrome. Proteomics. 2016
Jul;16(13):1938-46. doi: 10.1002/pmic.201500423.).

Bouhenni et al (Bouhenni RA, Al Shahwan S, Morales J, Wakim BT, Chomyk AM, Alkuraya FS, Edward DP. Identification of differentially expressed
proteins in the aqueous humor of primary congenital glaucoma. Exp Eye Res. 2011 Jan;92(1):67-75. doi:
10.1016/j.exer.2010.11.004. Epub 2010 Nov 13.) attempted to identify proteins that may be altered in PCG. 

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