Unfolding the enigma of lamina cribrosa morphometry and its association with glaucoma

Saba, Ayesha; Usmani, Ambreen; Islam, Qamarul; Assad, Tahira

doi:10.12669/pjms.35.6.568

Cited by 3 publications

(4 citation statements)

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“…The effectual prognostic approaches for PCG include trabeculectomy and goniotomy; preference relies on the severity. 20 To avert the advancement of PCG, an increased awareness has been developed regarding genetic counseling. The hereditary pattern of the disease can be defined by the formation of a familiar lineage.…”

Section: A H E a D O F P R I N Tmentioning

confidence: 99%

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Investigation of mutational spectrum in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma

Zahid

Khan

Zulfiqar³

et al. 2023

Pak J Med Sci

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Objective: To identify the genetic variants in the CYP1B1 gene associated with Primary Congenital Glaucoma (PCG) and to predict its pathological effect. Method: A descriptive study was conducted in the time period of nine months (September 2021-May 2022) after the ethical approval was taken from The Children Hospital and Institute of Child Health (CH & ICH). Two milliliters of the blood sample from PCG-affected individuals were collected in EDTA vacutainers and genomic DNA was extracted by a phenol-chloroform method. The semi-quantification of extracted DNA was done by agarose gel electrophoresis. PCR amplification was performed by specific primers of CYP1B1 gene then termination sequencing (di-deoxy) was done to detect the genetic variants. Different bioinformatics tools such as BLAST, Ensembl, Clustal Omega, Polyphen and SIFT were used for the further analysis of mutation causing the disease. Results: A total of 85% of patients were bilaterally affected, while 15% were unilaterally affected. Mutation analysis identified five non related known variants. Two missense mutations (c.355 G/T p.A119S and c.685G/A p.E229K) occurred in 94% patients and intragenic SNP occurred in 29% patients along with the 1% somatic (c.693C/A p.F231L) and stop gained mutation (c.840C/A p.C280*). Conclusion: Genetic analysis in the current study showed that 85% of PCG affected patients were due to the CYP1B1 mutation, and disease heterogeneity might be reduced through genetic counseling. doi: https://doi.org/10.12669/pjms.39.2.7081 How to cite this: Zahid T, Khan MU, Zulfiqar A, Jawad F, Saleem A, Khan AR. Investigation of mutational spectrum in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma. Pak J Med Sci. 2023;39(2):---------. doi: https://doi.org/10.12669/pjms.39.2.7081 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Section: A H E a D O F P R I N Tmentioning

confidence: 99%

“…The effectual prognostic approaches for PCG include trabeculectomy and goniotomy; preference relies on the severity. 20 …”

Section: Introductionmentioning

confidence: 99%

Investigation of mutational spectrum in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma

Zahid

Khan

Zulfiqar³

et al. 2023

Pak J Med Sci

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“…Эти изменения, вероятно, связаны с апоптозом ганглиозных клеток, о чем свидетельствуют дан- ные литературы [13,14]. Считается, что при ПОУГ в условиях ишемии и гипоксии в межтканевой жидкости накапливается глутамат и продукты перекисного окисления липидов [10,15], развивается блокада транспорта нейротрофических факторов к ганглиозным клеткам сетчатки [16,17], что способствует запуску процессов апоптоза в нейронах сетчатки [1]. Проведенный нами иммуногистохимический анализ позволил выявить различия в количестве CD34 +кровеносных сосудов в сетчатке при ПОУГ и увеальной меланоме.…”

Section: результаты и обсуждениеunclassified

The structure of human retinal vasculature and interstitium in the terminal stage of primary openangle glaucoma

Bgatova

Obanina

Еремина

et al. 2022

Rossijskij oftalʹmologičeskij žurnal

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Purpose: to study the structural organization of the vascular bed of human retina in the terminal stage of primary open-angle glaucoma (POAG).Material and methods. We performed a comparative immunohistochemical analysis of the content of vessels in the retina of 13 eyes of patients in the terminal stage of POAG, enucleated for medical reasons, and 17 eyes with uveal melanoma, using the markers of blood vessels endothelium CD34. The ultrastructural organization of the interstitium and endothelial cells of retinal microvessels was studied by electron microscopy and morphometry.Results. A significant increase in the volume density of the interstitium and a decrease in the volume density of CD34+-blood vessels in the retina of patients in the terminal stage of POAG, as compared with uveal melanoma, were revealed. An increased volume density of luminal and basal caveolae and the formation of transendothelial channels in the cytoplasm of endotheliocytes of retinal blood capillaries in the terminal stage of POAG were noted.Conclusion. In the terminal stage of POAG, the interstitial spaces of the retina are increased and the volume density of blood vessels is dropping. The increased volume density of luminal and basal caveolae and the formation of transendothelial channels in the cytoplasm of blood capillary endotheliocytes indicate the growth of transcytosis and the permeability of the blood-retinal barrier.

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“…The onset of LC morphological aberrations occurs way before the initiation of GON, hence its imaging and observation can be regarded as an early sign of glaucomatous damage. 5,6 Exploration of anatomical parameters of LC is advantageous and promises to play a vital role in management of glaucoma. LC can be visualized by non-invasive imaging using spectral domain ocular coherence tomography (SD-OCT) with EDI.…”

Section: Introductionmentioning

confidence: 99%

Comparative Evaluation of Lamina Cribrosa Anatomical Parameters with Retinal Nerve Fiber Layer Thickness Defects In Primary Open-angle Glaucoma Cases And Controls

Naz

Qamar

Surti

et al. 2023

J Gandhara Med Dent Sci

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OBJECTIVES To assess the lamina cribrosa (LC) anterior lamina cribrosa depth (ALCD), lamina cribrosa thickness (LCT) and retinal nerve fiber layer thickness (RNFLT) in primary open-angle glaucoma (POAG) cases and age-matched controls and to compare these anatomical variables among POAG cases and age-matched controls. METHODOLOGY The case-control study was researched at Al-Ain Eye Institute, Karachi, in four month’s duration (November 2018 till February 2019). Expert eye specialist recruited 57 POAG cases and 46 age-matched healthy controls. Observation of intraocular pressure (IOP) and open angle was done using Goldmann tonometry and Slit-lamp biomicroscopy with stereoscopic ophthalmoscopy respectively. Visual field parameters of mean deviation (MD) and pattern standard deviation (PSD) measured using Humphrey Field Analyzer. Highly sensitive spectral domain ocular coherence tomography with enhanced depth imaging (EDI-OCT) was used to determine ALCD, LCT and RNFLT. RESULTS Statistically significant results were produced by RNFLT defects when it is compared in groups of mild with moderate cases of POAG (P-value 0.037). ALCD and LCT did display an association with RNFLT defects but did not produced statistically significant results. CONCLUSION Assessments of ALCD and LCT can provide important prognostic evidence about RNFLT and can assist in future planning of mild and moderate cases suffering from POAG.

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Unfolding the enigma of lamina cribrosa morphometry and its association with glaucoma

Cited by 3 publications

References 35 publications

Investigation of mutational spectrum in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma

Investigation of mutational spectrum in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma

The structure of human retinal vasculature and interstitium in the terminal stage of primary openangle glaucoma

Comparative Evaluation of Lamina Cribrosa Anatomical Parameters with Retinal Nerve Fiber Layer Thickness Defects In Primary Open-angle Glaucoma Cases And Controls

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