Open Access Case study

The Importance of Molecular Testing for the Diagnosis of Fabry Disease Manifested by Cornea Verticillata Only

Aécio Cunha Hora, Thiago Sande Miguel, Tais Cristina Rossett, Victor Roisman, Daniel Almeida da Costa

Ophthalmology Research: An International Journal, Page 19-24
DOI: 10.9734/or/2021/v15i230209

Aims: To describe a Fabry disease, that it’s diagnosis was only possible through the molecular test

Presentation of Case: L.A.P. female, 42 years old, lawyer, seen by the ophthalmology department for routine consultation only with refractive complaints. Fundus of the eye: Mild narrowing with increased vascular brightness and presence of pathological arteriovenous crossings. The rest of the exam was within normal limits.

Therefore, a genetic test with the dosage of the α-Gal enzyme was requested, which evidenced the alteration in it, confirming the diagnosis of Fabry disease.

Discussion: A Fabry Disease (FD) is an inborn error of glycosphingolipid (GL) metabolism, resulting from deficient activity of the enzyme alpha-galactosidase A (α -Gal). It has X-chromosome-linked inheritance, affecting mainly males, with an estimated prevalence of 1:40,000 males. The expression of the disease in heterozygous female patients can vary from an asymptomatic condition to a severe systemic disease, like that which occurs in men.

Conclusions: The ophthalmological examination played an important role in the diagnosis, as this change is highly suggestive of the disease, in order to avoid erroneous and late diagnoses that can cause consequences for patients with this condition.

Open Access Case study

Solar Retinopathy: Case Report

Thiago Sande Miguel, Ana Luiza Mansur Souto, Fernanda Bekman Diniz Mitleg Rocha, Tais Cristina Rossett, Felipe Bekman Diniz Mitleg Rocha, Eduardo de França Damasceno, Daniel Almeida da Costa

Ophthalmology Research: An International Journal, Page 25-29
DOI: 10.9734/or/2021/v15i230210

Aims: To describe a solar retinopathy.

Presentation of Case: ALPN, 29 years old, male, with cognitive deficit that started after a car accident that occurred at the age of 6 years, attends the ophthalmology clinic of the University Hospital Antônio Pedro, Rio de Janeiro, Brazil with complaints of decreased visual acuity and metamorphopsia in both eyes (AO) started approximately 8 months ago. Family members reported that after the accident, the patient had the habit of spending mornings and afternoons looking at the sun.

Discussion: Solar retinopathy is caused by the photochemical and thermal effects of ultraviolet radiation on retinal cells, especially in the outer retina and retinal pigment epithelium (RPE). Symptoms can start a few hours after direct observation of the sun, and in most cases a bilateral involvement, although asymmetrically with variable visual acuity.

Conclusions: A Solar retinopathy has a multifactorial origin, as it is related to the exposure time and the susceptibility of each individual. The use of hats and sunglasses with protection against ultraviolet rays and anti-reflection are effective preventive measures to be adopted if there is a need for exposure and observation of sunlight.

Open Access Original Research Article

Choroidal Tubercles, an Ocular Presentation in Tuberculosis- a Retrospective Observational Hospital-based Study

Rohit Raina, Neha Chhabra

Ophthalmology Research: An International Journal, Page 1-6
DOI: 10.9734/or/2021/v15i230207

Aim: To find the prevalence of choroidal tubercles in tuberculosis patients.

Introduction: Tuberculosis is the most common cause of infectious cause of death especially in endemic countries. Tuberculosis infection spreads hematogenously from primary infection site to rest of the body. Ocular presentation manifests in the form of choroidal tubercles being the most common fundus change.

Materials and Methods: It was a retrospective, observational hospital-based study. Total 100 tuberculosis patients were studied and their data were collected from Hospital record system from February 2020 to March 2021. Fundus examinations were reviewed and most common ocular presentation was found to be choroidal tubercles.

Observations and Results: During the study period, out of 100 patients, 60% were females and 40% were males. Fundus changes were present in 14% patients and these were choroidal tubercles in 12% patients and papillitis in 2%. Choroidal tubercles were present in 7 females and 5 males.

Conclusion: We concluded that choroidal tubercles is one of the most common form of ocular tuberculosis. Detection of choroidal inflammation can prevent visual loss as the ocular lesion resolves fully with timely management.

Open Access Original Research Article

Intraocular Pressure Reduction and Complications Profile of Trabeculectomy with 5 Fluorouracil Versus Phaco-trabeculectomy with 5 Fluorouracil in Nigerian Glaucoma Patients

Adunola Ogunro, Godswill Inye Nathaniel

Ophthalmology Research: An International Journal, Page 30-37
DOI: 10.9734/or/2021/v15i230211

Aims: To evaluate the surgical outcome of combined phacoemulsification cataract surgery plus posterior chamber intraocular and trabeculectomy with adjunctive 5-Fluorouracil versus trabeculectomy with 5-Fluorouracil in the management of Primary open angle glaucoma.

Study Design: it was retrospective comparative interventional study

Place and Duration of Study: Glaucoma Unit, Eye foundation Hospital Ikeja, Lagos, Nigeria between January 2015, and December 2017

Materials and Methods: A retrospective review of consecutive 29 eyes (29 patients) who had trabeculectomy with 5-Fluorouracil compared with 26 eyes (26 patients) who had combined phacotrabeculectomy with 5-Fluorouracil from 2015 to 2017. All patients had a minimum follow up of 3 months.

Results: The mean age of 54.48±14.42 years in Trabeculectomy group was significantly (p>0.001) lower than 70.76±7.22 years for the Phacotrabeculectomy group.  The mean preoperative intraocular pressure (IOP) and number of glaucoma medication were similar for the two groups (19.86±9.63mmHg versus 22.23±8.99mmHg; 2.66±1.20 versus 2.73±0.72 medication, trabeculectomy versus phacotrabeculectomy respectively). The postoperative IOP and glaucoma medication after a mean follow up period of 17.11±9.81 months was not significantly different between the two groups (11.55±2.71mmHg versus 12.31±4.33mmHg, p=0.436 for trabeculectomy versus phacotrabeculectomy respectively). Both groups significantly required fewer number of antiglaucoma medication at final follow-up (1.14±0.92 vs 1.46±1.10, trabeculectomy vs phacotrabeculectomy. In the trabeculectomy group, 25 (86.2%) had IOP of ≤15mmHg with or without topical antiglaucoma drops. In the phacotrabeculectomy, 21 (80.76%) had IOP of ≤15mmHg with or without topical antiglaucoma medication (Qualified success).  On the other hand, 8 (27.58%) had IOP of ≤15mmHg without topical antiglaucoma medication at the end of the follow-up in the trabeculectomy (Complete success). In the phacotrabeculectomy group, 5 (19.23%) had final IOP of ≤15mmHg without topical antiglaucoma medication.

Few complications occurred in both groups.

Conclusion: Phacotrabeculectomy augmented with 5-Fluorouracil gave comparable surgical success to 5-Fluorouracil augmented trabeculectomy alone.

Open Access Review Article

Contrast Sensitivity Measurement Tests and Methods

George Karetsos, Aristeidis Chandrinos

Ophthalmology Research: An International Journal, Page 7-18
DOI: 10.9734/or/2021/v15i230208

Contrast is a measure of the amount of lightness or darkness an object has in relationship to its background. Usually, it is described as Contrast Sensitivity (CS), which actually is the inverse of the contrast threshold. More often than not, stimulus set includes grating patterns of various sizes that are presented in a stationary manner or are dynamically presented by reversing the contrast at different rates.

A variety of tests were developed, in order to asses and evaluate contrast sensitivity, in many different ways. A classical method, to check for contrast sensitivity, is the Pelli-Robson contrast sensitivity chart.

The Bailey-Lovie contrast sensitivity chart is another letter chart that deals with differences in the number of letters read on the high and low contrast charts, with a main drawback, the necessity to follow the size of the letters.

The Functional Acuity Contrast Test is designed to identify vision loss from a variety of disorders, many of which are not detected by high or low contrast Snellen Acuity tests. The MARS Letter Contrast Sensitivity Test shows good agreement with the Pelli-Robson test and possibly it may be the alternative to the Pelli-Robson chart, in clinical practice and research.