Original Articles


Increasing Efficiency of Short-Tandem-Repeat Genotyping for a Single Hair by Improving DNA Extraction: A Practical Study

Jiewen Fu, Jingliang Cheng, Binghui Song, Jie qian, Chunli Wei, Ting He, Xiaoli Zheng, Tao He, Junjiang Fu

Journal of Ophthalmic and Optometric Sciences, Vol. 6 No. 2 (2022), 8 November 2023, Page 1-11
https://doi.org/10.22037/joos.v6i2.41542

Background: Although DNA isolation using the commercial chelex 100 is inexpensive and fast, the DNA gained by this method shows a low concentration and is of poor quality in certain materials, such as hairs; high amount of DNA will also inhibit the efficiency of the PCR amplification.

Material and Methods: In the present study, we have improved a hair DNA isolation approach based on chelex 100, where ammonium acetate was added to precipitate proteins, ethanol was used to pellet out DNA, and glycogen was applied as a carrier of successful DNA recovery.

Result: As a result, we obtained high quality of DNA, which can be successfully used for authentic STR analysis from one single hair. We also noticed that the DNA dilution from 25 to 125 fold presented very good quality for short-tandem-repeat (STR) genotyping by only chelex 100 extraction, demonstrating the efficiency for STR genotyping can be improved by dilution of PCR inhibitors or other unknown inhibitors.

Conclusion: Taken together, our improved extraction and dilution of DNA would be used as an option for the application of hair STR analysis in judicial authentication and forensic sciences. This method may be usable for other samples, such as, eyelashes, eyebrows, tissues, sperms and blood samples in human and animals for STR genotype or DNA fingerprinting, and genetics diagnosis including retinal diseases.

Identification of Novel Potential miRNA and mRNA Biomarkers in High Myopia Using Systems Biology Approaches

Fang Wang , Fan Yang , Wenqiong Ma, Zexiu Wu, Yuqin Zhang , Guiqi Yang, Zhangmei Guo , Qi Zhou, Hongbin Lv

Journal of Ophthalmic and Optometric Sciences, Vol. 6 No. 2 (2022), 8 November 2023, Page 12-22
https://doi.org/10.22037/joos.v6i2.41600

Background: Myopia, also known as shortsightedness, is a common eye disorder characterized by a refractive error of the eye. It is estimated that by 2050, over 1 billion people will be affected by myopia. Recent studies have shown that miRNAs play a significant role in the genetic factors contributing to myopia. 

Materials and Methods: The raw dataset (GSE142359), consisting of miRNAs, was obtained from the GEO database. The dataset includes 10 samples, 5 from patients with high myopia and 5 from controls. Differentially expressed genes were identified using the EdgeR package in R software. The most significant miRNAs were then entered as input into the miRWalk web tool and target genes were identified. Subsequently, the PPI network was extracted using STRING and 10 clusters were identified. 

Results: A total of 136 miRNAs were identified as significant differentially expressed miRNAs (DEmiRNAs). Then, we constructed miRNA-mRNA bipartite network with 564 interactions including 490 genes and 50 miRNAs. Afterwards, 5 miRNAs including: hsa-miR-195-5p, hsa-miR-24-3p, hsa-miR-16-5p, hsa-miR-181b-5p, and hsa-miR-130a-3p and 8 proteins including ESR1, BCL2, VEGFA, FGF2, MAPK14, H2AX, APP, and MAP3K10 were identified. Finally, two new miRNAs including hsa-miR-195-5p and hsa-miR-24-3p, and three novel proteins including: ESR1, BCL2, and MAPK14 were proposed as potential biomarker in high myopia.

Conclusion: This study revealed new miRNAs previously unknown in highly myopic eyes through bioinformatics analysis. The identified candidate miRNAs and their related drug targets and genes can serve as potential biomarkers, improving the understanding of new therapeutic targets for highly myopic eyes.

Flash Visual Evoked Potential Recording in Patients with Orbital Fracture

Nazanin Fatemian, Seyed Mohammad Masoud Shushtarian, Farhad Adhami-Moghadam

Journal of Ophthalmic and Optometric Sciences, Vol. 6 No. 2 (2022), 8 November 2023, Page 23-29
https://doi.org/10.22037/joos.v6i2.43314

Background:  This study aims to record and analyze visual evoked potentials in patients with orbital fractures in order to improve understanding and treatment of this condition.

Materials and Methods:  In order to assess their visual function, visual evoked potentials (VEP) were recorded using flash stimulation. The latency (in milliseconds) and amplitude (in microvolts) of the P100 component of the VEP were measured in the patient group and compared to a control group of 11 individuals matched for age and sex who had a healthy visual system.

Results: TThe study included two groups with an equal number of males and females. There, no statistically significant difference in terms of age and sex between the two groups. The best corrected visual acuity (BCVA) showed a large difference between the two groups, with the patients having only light perception ability while the control group had full vision (10/10). The mean latency for VEP100 peak was 130.36 ± 8 in the case group and 99.63 ± 2.33 in the control group. The mean amplitude was 1.27 ± 0.46 in the case group and 4.27 ± 0.78 in the control group. Both the latency and amplitude of VEP100 peak showed significant differences between the case and control groups (P < 0.001).

Conclusion: Head trauma can result in eye dysfunction, primarily affecting the visual pathway. One way to diagnose this condition is by measuring the latency and amplitude of the VEP p1000 peak.

Retinal Screening of Coats Disease Using Electrooculography

Seyed Mohammad Masoud Shushtarian, Farhad Adhami-Moghadam

Journal of Ophthalmic and Optometric Sciences, Vol. 6 No. 2 (2022), 8 November 2023, Page 30-36
https://doi.org/10.22037/joos.v6i2.43839

Background: Coats disease is a retinal disorder characterized by the abnormal dilation of blood vessels within the human retina. This study aimed to evaluate the electrooculography (EOG) in patients diagnosed with Coats disease.

Material and Methods: A total of 11 male patients (20 affected eyes) suffering from Coats disease were selected for this investigation. EOG measurements were conducted on the patient group using the Mangoni machine. Subsequently, the results were compared with an equivalent number of 11 normal participants (20 eyes) following the EOG test. Finally , statistical analysis was carried out.

Results: The case and control groups did not display significant differences in terms of age. However, a notable distinction was observed in the Best Corrected Visual Acuity (BCVA) between the two groups. Moreover, the comparison of the Arden Index (AI) of EOG showed values of 2.21 ± 0.23 and 2.20 ± 0.23 in the control and case groups, respectively. The difference in the mean AI of EOG was not statistically significant between the patients and the normal groups.

Conclusion: The findings of this study indicate that Coats disease does not seem to cause damage to the retina, particularly the retinal pigment epithelium, which is reflected in the Arden Index (AI) of the EOG wave. These results suggest that the retinal pigment epithelium remains relatively unaffected in individuals afflicted by Coats disease, as evidenced by the comparable AI values of the EOG wave between the patient and control groups.

Review Articles


A Review on Ophthalmologic Manifestations in Beta-Thalassemia Major Patients

Negar Ghaedi, Hesam Hashemian

Journal of Ophthalmic and Optometric Sciences, Vol. 6 No. 2 (2022), 8 November 2023, Page 37-51
https://doi.org/10.22037/joos.v6i2.42366

Background: Beta-thalassemia is an inherited blood disorder that leads to early apoptosis of red blood cells (RBCs), ineffective erythropoiesis, and ocular complications. The disease is classified into beta-thalassemia minor (β-TMi), beta-thalassemia intermedia (β-TI), and beta-thalassemia major (β-TM).We aim to review various functional and structural ocular manifestations of β-TM patients in different studies and present the most important findings based on the prevalence and etiologies of each ocular complication.

Materials and methods: To reach this purpose, we developed a search strategy using the keywords “eye disease,” “ocular complications,” “ocular manifestations,” and “ocular abnormality,” each with “beta-thalassemia” in the two popular search engines PubMed and Google Scholar up to December 2022. We also reviewed related references of the chosen papers.

Results: According to the literature review, the most consistent is the correlation of β-TM with dry eye disease and fundus alterations, while there are still many challenges regarding the prevalence and etiologies of other ocular complications in β-TM patients.

Conclusion: This finding warrants studies with larger sample sizes to reach more reliable results and take them into action for preventing and timely diagnosing such ocular complications.

Advances in Optical Coherence Tomography

Mohsen Shadmehri

Journal of Ophthalmic and Optometric Sciences, Vol. 6 No. 2 (2022), 8 November 2023, Page 52-61
https://doi.org/10.22037/joos.v6i2.42826

Background:  This review is dedicated to providing a comprehensive understanding of the foundational principles of OCT, tracing its progression from time-domain to Fourier-domain methodologies, and examining the substantial advancements that have profoundly transformed its role in ophthalmological diagnostics.  

Material and Methods: Our methodology involves a comprehensive literature review. The review begins with a meticulous exploration of the fundamental principles of OCT, delving into its profound connection with the wave-like nature of light. We then proceed with an in-depth examination of the progression of OCT methodologies, tracing their journey from time-domain to Fourier-domain. This is followed by an exhaustive discussion of the most recent advancements in OCT technology, including the emergence of vis-OCT, AO-OCT, PS-OCT, High-Res OCT, and FFOCT.  

Results: Since its inception, OCT has undergone several evolutions, with each advancement contributing to improved image resolution, increased acquisition speed, and enhanced imaging depth. These technological advancements have allowed for a more precise and early detection of various ocular conditions. Furthermore, innovations such as vis-OCT, AO-OCT, and others, have demonstrated their potential in expanding OCT's diagnostic capabilities.  

Conclusions: The continual evolution and refinement of OCT technology underscore its critical role in enhancing our understanding of the eye's microstructure and contribute to more effective diagnostic strategies and targeted interventions for various ocular pathologies. As OCT technology continues to evolve, it promises an exciting future for eye care, with possibilities for even more advanced imaging techniques, better diagnostics, and improved patient care.

Case Reports


Bilateral Vision Loss in a Patient Following Cardiac Surgery

Seyed Mohammad Masoud Shushtarian, Reza Pour Mazar, Ahmad Shojaei

Journal of Ophthalmic and Optometric Sciences, Vol. 6 No. 2 (2022), 8 November 2023, Page 62-66
https://doi.org/10.22037/joos.v6i2.40838

Cardiac surgery describes any surgical procedure involving the heart or the blood vessels carrying blood to and from it. It is usually a safe surgery regarding the visual system; however, in rare cases, due to certain complications, a devasting consequence occurs, leading to total blindness in patients. In this regard, a central vision loss in a 62-year-old patient following cardiovascular surgery is reported.

Combined Branch Retinal Vein and Artery Occlusion in Toxoplasmosis with Hyperhomocysteinemia, and Mutation of Factor V Leiden

Siamak Moradian, Mohammad Sadegh Dehghani, Milad Khorshidfar, Tahmineh Motavasseli, Mehdi Emamverdi

Journal of Ophthalmic and Optometric Sciences, Vol. 6 No. 2 (2022), 8 November 2023, Page 67-73
https://doi.org/10.22037/joos.v6i2.42823

Moreover, heterozygosity of a mutation of factor V Leiden; FVL (coagulation factor V gene) was also observed in the case. The patient was diagnosed with branch retinal vein and artery occlusion with hyperhomocysteinemia and mutation of factor V Leiden. The patient was underwent intravitreal injection of bevacizum (IVB), and PRP laser due to severe retinal ischemia and extensive NVD. The patient was treated with sulfamethoxazole (800 mg), trimethoprim (160 mg), and corticosteroid (1-1.5 mg/kg/day). Vitamin B6 (100 mg/daily), acid folic (5 mg daily), and vitamin B12 (112 mg/daily) were also added to the treatment for 8 weeks. After treatment, the assessment of plasma homocysteine showed that the level of homocysteine was normal. This is the first report of combined retinal branch vein and artery occlusion in toxoplasmosis with hyperhomocysteinemia and mutation of factor V Leiden.