Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR.

Background: Familial exudative vitreoretinopathy (FEVR) is a rare inherited disorder marked by incomplete retinal vascularization associated with exudation, neovascularization, and tractional retinal detachment. FEVR is genetically heterogeneous and is caused by variants in six genes: FZD4, LRP5, NDP, TSPAN12, ZNF408, and CTNNB1. In addition, the phenotypic overlap between FEVR and other disorders has been reported in patients harboring variants in other genes, such as KIF11, ATOH7, and RCBTB1. Purpose: To identify pathogenic variants in Vietnamese pediatric patients diagnosed with FEVR and to investigate the clinical findings in correlation with each causative gene. Methods: A total of 20 probands underwent ocular examinations with fundoscopy (ophthalmoscopy) or fluorescein angiography. Genomic DNA was extracted from the peripheral blood of the probands and their family members. Multiplex ligation-dependent probe amplification (MLPA) was employed to detect copy number variants of FEVR-causing genes. Short variants were screened by whole-exome sequencing (WES) and then validated by Sanger sequencing. Results: Fluorescein angiography showed retinal vascular anomalies in all patients. Other ocular abnormalities commonly found were strabismus, nystagmus, exudation, and retinal detachment. Genetic analysis identified 12 different variants in the FZD4, NDP, KIF11, and ATOH7 genes among 20 probands. Four variants were novel, including FZD4 c.169G>C, p.(G57R); NDP c.175-3A>G, splicing; KIF11 c.2146C>T, p.(Q716*) and c.2511_2515del, p.(N838Kfs*17). All patients with the KIF11 variant showed signs of microcephaly and intellectual disability. The patient with Norrie syndrome and their family members were found to have a deletion of exon 2 in the NDP gene. Conclusions: This study sheds light on the genetic causes of ocular disorders with the clinical expression of FEVR in Vietnamese patients. WES was applied as a comprehensive tool to identify pathogenic variants in complex diseases, such as FEVR, and the detection rate of pathogenic mutations was up to 60%.

Development of oculomotor control throughout childhood: A multicenter and multiethnic study.

Although steady fixation is a key aspect of a proper visual function, it is only subjectively assessed in young and uncooperative children. In the present study, we characterize the development of fixational behavior throughout childhood in a large group of healthy children 5 months of age and up, recruited in five geographically diverse sites. In order to do it, we examined 802 healthy children from April 2019 to February 2020. Their oculomotor behavior was analyzed by means of an automated digital system, based on eye-tracking technology. Oculomotor outcomes were gaze stability, fixation stability and duration of fixations (for both long and short fixational tasks), and saccadic reaction time. Ninety-nine percent of all recruited children were successfully examined. Fixational and saccadic performance improved with age throughout childhood, with more pronounced changes during the first 2 years of life. Gaze and fixation tended to be more stable with age (p < 0.001 for most the outcomes), and saccades tended to be faster. In a multivariate analysis, including age and ethnicity as independent variables and adjusting by data quality, age was related with most fixational outcomes. Our automated digital system and eye-tracking data allow us to quantitatively describe the development of oculomotor control during childhood, assess visual fixation and saccadic performance in children 5 months of age and up, and provide a normative reference of fixational outcomes for clinical practice.

Cataract Surgery Destabilises Temporary the Tear Film of the Ocular Surface. / Kataraktchirurgie destabilisiert vorübergehend die Benetzung der Augenoberfläche.

BACKGROUND: Symptoms due to dry eye in the form of keratoconjunctivitis sicca (KCS) are often seen after cataract surgery. We investigated the influence of cataract surgery on tear film stability on the ocular surface. MATERIAL AND METHODS: 60 eyes of 60 patients who underwent cataract surgery were included in a prospective study in 2017 at the Eye Hospital in Hanoi (Vietnam National Institute of Ophthalmology). The mean age of the patients was 65 ± 10 years. The phacoemulsification was performed under topical anaesthesia by a clear corneal incision and implantation of a foldable IOL. The parameters for the evaluation of the change of the tear film included subjective patient data using the Ocular Surface Disease Index questionnaire (OSDI), findings of the Schirmer I test, the tear break-up time (TBUT) as well as the tear meniscus height (TMH) measured noninvasively with the Keratograph 5M (Oculus). In addition, conjunctival and corneal changes were examined after vital staining with fluorescein for the cornea and rose bengal for the conjunctiva. Data were collected preoperatively, at 1 week, 1 month and 3 months postoperatively. According to DEWS, the disease is classified into 4 groups: mild, moderate, severe and very severe. RESULTS: One week after surgery, the total score according to OSDI was significantly increased with a total value of 14.4 ± 4.2 (p = 0.001). Schirmer I was 15.8 ± 4.3 mm preoperatively and decreased significantly in the first postoperative week (p = 0.001), before reaching the preoperative level again after three months. TBUT was 12.6 ± 1.5 s preoperatively, decreased significantly to 9.7 ± 1.5 s during the first postoperative week, and normalized to 12.4 ± 1.3 s by the end of the third month. The meniscus height was 0.245 ± 0.055 mm preoperatively, significantly lowered to 0.229 ± 0.057 mm in the first postoperative period and nearly normalised by the third postoperative month to 0.241 ± 0.051 mm. In the first postoperative week, the rate of mild KCS was observed in 30% of patients. At one month, this decreased to 10% and at three months was no longer demonstrable in any patient. CONCLUSION: One of three patients experienced mild KCS after cataract surgery. The symptoms lasted up to three months. This should be taken into account preoperatively and appropriate therapy should be planned.

Correcting Corneal Astigmatism with Corneal Arcuate Incisions during Femtosecond Laser Assisted Cataract Surgery.

BACKGROUND: Astigmatic management is an important step to achieve the best visual quality after refractive cataract surgery. Nowadays, along with progress in cataract surgery, the femtosecond laser can produce the arcuate incisions high precisely that help the astigmatic correction. In Vietnam, it has not yet any study about this issue, so we perform this study. AIM: To assess the efficacy and safety of arcuate corneal incisions in treatment corneal astigmatism during femtosecond laser-assisted cataract surgery. METHODS: In this clinical interventional study, forty-five cases with cataract and corneal astigmatism (> 0.50D) were treated with corneal arcuate incisions and femtosecond-laser assisted cataract surgery in Vietnam National Institute of Ophthalmology, from January 2017 to May 2018. The uncorrected and corrected distance visual acuity, refraction spherical equivalent, corneal astigmatism were measured (using an OPD-Scan III topographer) before, 1 week and 3 months after surgery. Some features of arcuate corneal incisions (quantity, depth, length and morphology), spectacle independence at a distance and complications were recorded. RESULTS: The rate of postoperative spherical refraction equivalent was within ± 0.50D and ± 1.0D at 3 months (in 95.6% and 100% of the eyes respectively). Mean length of arcuate corneal incisions was 53.78o ± 17.683o (range: 20o to 85o). The average of preoperative corneal astigmatism was 1.65 ± 0.83D, decreased to 0.59 ± 0.549D in the third month after surgery. Surgical induced astigmatism was 1.05 ± 0.449D and lower than preoperative corneal astigmatism (1.65 ± 0.83D), thereby this indicated undercorrection. However, the rate of spectacle independence was 82.3%, and no complications were recorded. CONCLUSION: Correcting of corneal astigmatism in femtosecond laser-assisted cataract surgery combined with the formation of the arcuate incisions is a new and modern method for high safety and efficacy.

Outcomes of Small Incision Lenticule Extraction for Myopic Astigmatic Treatment.

BACKGROUND: Some studies have shown that there is a certain rotation of the eye in the sitting and lying position of the patient. The Visumax system used for the Refractive Lenticule Extraction-Small Incision Lenticule Extraction (ReLEx SMILE) surgery lacks the rotation of eye control function. So, is the ReLEx SMILE surgery for patients with astigmatism safe and effective? AIM: To evaluate the outcomes of the ReLEx SMILE surgery in cases with myopic astigmatism. METHODS: The case series included 120 eyes with myopic astigmatism undergoing ReLEx SMILE surgery from January 2018 to November 2018. The distribution of patients for two subgroups based on the power of astigmatism, low astigmatic group (≤ 1.50D) and high astigmatic group (> 1.50D). All patients were measured UDVA, CDVA, refractive sphere, astigmatism and sphere equivalent before and after surgery one week, one month and three months carefully. The astigmatic correction was evaluated by the vectorial analysis Alpins. RESULTS: The mean efficacy index of the low and high astigmatic group was 1.035 and 1.082 (respectively); the mean safety index was 1.113 and 1.215 (respectively). 93% of eyes in the low astigmatic group had an angle of error (AE) within ± 15 degrees and 100% in high astigmatic group. There was an undercorrection in astigmatic treatment. No complications during and after surgery were recorded. CONCLUSION: ReLEx SMILE surgery for the myopic astigmatic treatment was safe and effective.

Penetrating Keratoplasty for Keratoconus in Vietnamese Patients.

BACKGROUND: Keratoconus is an ectatic corneal disorder that can impair the visual acuity. Up to now, penetrating keratoplasty (PK) remains the most common surgical procedure to treat severe keratoconus. In Vietnam, most keratoconus patients come to visit doctor at severe stage and were treated by PK, so we conduct this study. AIM: To evaluate the results of PK for keratoconus in Vietnamese patients. METHODS: This was a retrospective study of 31 eyes with keratoconus who underwent PK in VNIO from January 2005 to December 2014. RESULTS: The average visual acuity was 0.86 ± 0.37 logMAR (20/145). In the group of patients without amblyopia, best spectacle-corrected visual acuity of 20/60 or better was recorded in 75.9% of eyes and 93.1% of eyes achieved a best corrected visual acuity with hard contact lenses of 20/40 or better. Mean postoperative corneal power was 43.8 ± 4.5D. Mean corneal astigmatism was 5.9 ± 2.7D. 94.6% of grafts remained clear. Posterior subcapsular cataract developed in 22.6% of eyes. Graft rejection was recognized in 12.9% of eyes. CONCLUSION: PK is an effective procedure with high rate of graft survival for keratoconus patients. However, patients should be aware of the necessary of optical correction to gain the best VA after surgery.

Evaluation of Phacoemulsification Cataract Surgery Outcomes After Penetrating Keratoplasty.

BACKGROUND: Cataract is one of the reasons which causes impaired visual acuity (VA) of the eyes after penetrating keratoplasy (PK), which can be treated by cataract surgery after PK or triple procedure. Cataract surgery after PK has advantages that parameters of the eyes such as axial length, anterior chamber depth (ACD) as well as corneal curvature are stabilized after removing all sutures postoperatively, and intraocular lens (IOL) power can be calculated correctly. Therefore, postoperative VA will be improved significantly. In Vietnam, there have not been any study about cataract surgery after PK, therefore we conduct this research. AIM: To evaluate the outcomes of phacoemulsification cataract surgery following primary PK. METHODS: Non-randomized controlled intervention study. Ninteen eyes (19 patients) that underwent phacoemulsification plus IOL insertion after initial PK in Cornea department, Vietnam National Institute of Ophthalmology, from December 2013 to September 2014. RESULTS: All patients presented with reduced VA, including 17 eyes (89.9%) with VA ≤ 20/200, mean astigmatism was 7.9 ± 1.0 D. Clear corneal grafts in 16 eyes while corneal opacity was seen in 3 eyes. All eyes with cataract were diagnosed from grade 2. After cataract surgery, improved VA > 20/200 was achieved in 72.22% of cases. There was a markable reduce of postoperative astigmatism with 1.8 ± 0.8 D (p < 0.05). However, the immunologic graft reaction was presented in one eye, and two edematous corneas also reported after cataract surgery. After treatment, there was one cornea achieved its clarity. CONCLUSION: Phacoemulsification cataract surgery following initial PK showed good outcomes with improved postoperative VA, reduced astigmatism, and the ultimate graft survival rate was high.

Trachoma in Viet Nam: results of 11 surveillance surveys conducted with the Global Trachoma Mapping Project.

PURPOSE: Following interventions against trachoma in Viet Nam, impact surveys conducted in 2003-2011 suggested that trachoma was no longer a public health problem. In 2014, we undertook surveillance surveys to estimate prevalence of trachomatous inflammation-follicular (TF) and trichiasis. METHODS: A population-based prevalence survey was undertaken in 11 evaluation units (EUs) encompassing 24 districts, using Global Trachoma Mapping Project methods. A two-stage cluster sampling design was used in each EU, whereby 20 clusters and 60 children per cluster were sampled. Consenting eligible participants (children aged 1-9 years and adults aged ≥50 years) were examined for trachoma. RESULTS: A total of 9391 households were surveyed, and 20,185 participants (98.8% of those enumerated) were examined for trachoma. EU-level TF prevalence in 1-9-year-olds ranged from 0% to 1.6%. In one cluster (in Hà Giang Province), the percentage of children with TF was 10.3%. The overall pattern of cluster-level percentages of children with TF, however, was consistent with an exponential distribution, which would be consistent with trachoma disappearing. Among people aged ≥50 years, prevalence of trichiasis by EU ranged from 0% to 0.75%; these estimates are equivalent to 0-0.13% in all ages. The prevalence of trichiasis unknown to the health system among people aged ≥50 years, by EU, ranged from 0% to 0.17%, which is equivalent to 0-0.03% in all ages. CONCLUSION: Findings suggest that trachoma is no longer a public health problem in any of the 11 EUs surveyed. However, given the high proportion of children with TF in one cluster in Hà Giang Province, further investigations will be undertaken.