Novel Homozygous Missense Variant in GJA3 Connexin Domain Causing Congenital Nuclear and Cortical Cataracts

Congenital cataracts (CC) are responsible for approximately one-tenth of childhood blindness cases globally. Here, we report an African American family with a recessively inherited form of CC. The proband demonstrated decreased visual acuity and bilateral cataracts, with nuclear and cortical cataracts in the right and left eye, respectively. Exome sequencing revealed a novel homozygous variant (c.563A > G; p.(Asn188Ser)) in GJA3, which was predicted to be pathogenic by structural analysis. Dominantly inherited variants in GJA3 are known to cause numerous types of cataracts in various populations. Our study represents the second case of recessive GJA3 allele, and the first report in African Americans. These results validate GJA3 as a bona fide gene for recessively inherited CC in humans.

The scenario of childhood blindness and its remedy in Nepal

Childhood blindness represents one of the most common disabling and for children. There are approximately 1.4 million blind children worldwide and two-thirds live in the developing countries like Nepal. In Nepal more than 80% of the causes of childhood blindness are preventable. The main causes of blindness are diseases related to cornea, retina, lens optic nerve, refractive errors, amblyopia and hereditary. Most of the cases of unilateral childhood blindness are due to corneal causes. To decrease the burden of blindness, awareness program about various ocular diseases, nutritional blindness, ocular trauma, refractive errors, strabismus and amblyopia should be provided to the community health workers and parents. School screening programs and free eye camps should be conducted and motivate the community for regular eye checkup and follow up. Eye services should reach to rural areas and for poor socio-economic condition. Eye health education should focus on proper nutrition of children and harmful effects of traditional eye medicines. The objective of this study was to investigate the magnitude of childhood blindness in Nepal along with their possible causes. Similarly, this study is aimed to highlight the best possible modalities for the remedy of childhood blindness in the developing countries like Nepal.

The Pediatric Eye Health Challenge Beyond 2020

Evidence suggests that improved eye health offers the potential to progress toward achieving United Nations Sustainable Development Goals (SDGs). With Vision 2020: Right to Sight Initiative coming to an end and the emergence of the coronavirus pandemic, it is necessary to revisit the priority of pediatric eye health. Considering the profound impact of childhood blindness and visual impairment, it is important to draw the attention of public health leaders, policymakers, organizations, and governments to create innovative and effective strategies to combat the emerging eye health challenges of children and their families.

Correlation of Retinopathy of Prematurity with Oxygen Saturation

Retinopathy of prematurity (ROP) is an abnormal vascular proliferative disease of retina that affects preterm infants. It is a leading cause of childhood blindness worldwide despite improvement in neonatal care and management. Earlier ROP was found to be associated with oxygen therapy only. Now it was concluded that aetiology of ROP was multifactorial but three factors have shown significant association with ROP: low gestational age (GA), low birth weight (BW), prolonged exposure to supplementary oxygen following delivery. Several investigators reported that lower oxygen saturation targets at young post-gestational ages with increased oxygen saturation targets at older post gestational ages reduced the incidence of ROP. However previous clinical studies are not conclusive.

80 Years of vision: preventing blindness from retinopathy of prematurity

Retinopathy of prematurity (ROP) is one of the leading yet preventable causes of childhood blindness worldwide. The purpose of this review is to provide a practical template for observational and treatment methods in order to reduce the overall incidence of any ROP and to improve both short-term and long-term outcomes once Type 1 ROP (treatable ROP) develops.

Prevalence and Risk Factors For Retinopathy of Prematurity Among Infants in Minilk-II Hospital, Addis Ababa, Ethiopia: A Retrospective Cross-Sectional Study, 2020.

Background: Retinopathy of prematurity (ROP) is defined as a vaso-proliferative retinal disorder that leads to childhood blindness; and persists as the main cause of preventable childhood blindness. The impact of ROP in developing countries is heavier as term infants can develop ROP because of inadequate awareness of the disease development and the risk factors. Hence, the aim of the study is assessing the prevalence and risk factors for retinopathy of prematurity in the specific study area.Methodology: An institutional based cross-sectional retrospective study was conducted on 301 samples of the pediatrics out-patient eye clinic medical records, at Minilik II referral hospital, from March to April 2020. Study subjects were selected using systematic random sampling method. Data was collected from medical records of all infants visiting the hospital for eye problems from January 2018 to December 2019, using a structured check list. The collected data was entered and cleaned using Epi data 6.4.2.0 and then exported & analyzed using SPSS version 25. Bivariate and multivariate analysis was computed to distinguish the statistically significant factors. Result: The prevalence of ROP among infants in this study showed 39(13%). Of these, more than half (56.4%) were Zone II + Stage 1, followed by Zone II + stage-2, and Stage-5; 12.8% and 10.2% respectively. Birth weight, oxygen therapy and sepsis were the factors significantly associated with ROP [AOR= 39.28; 95% CI: 3.204- 481.658], [AOR= 5.317; 95% CI:1.009- 28.019] and [AOR=9.805; 95% CI:1.592- 60.388] respectively. Conclusions: the prevalence of ROP in the current study is (13%). Birth weight, oxygen therapy and sepsis were the determinant risk factors for development of ROP. Regular ANC, and maternal education may be important to reduce the risk of low-birth weight, and sepsis that results in long-term oxygen therapy leading to childhood blindness.