ABSTRACT
PURPOSE: To synthesize the outcome measures used by randomized controlled trials (RCTs) for childhood glaucoma. METHODS: MEDLINE, EMBASE, and Scopus were searched from inception to February 17, 2023. Randomized controlled trials and observational studies related to childhood glaucoma were included. Primary and secondary outcomes were extracted and the data was used to generate a literature review. RESULTS: This review identified 42 unique reports pertaining to childhood glaucomas. Most of the studies originated from Egypt, India, and the USA. Intraocular pressure (IOP) outcomes were the most frequent outcomes studied, followed by clinical outcomes and safety outcomes. Clinical outcomes were the most common secondary outcomes studied, followed by IOP outcomes and safety outcomes. CONCLUSIONS: This systematic review found heterogenous outcomes with IOP outcomes as the most studied primary outcome. As the remaining outcomes were not consistently utilized, this review highlights the need for a consensus on studies of pediatric glaucoma.
Subject(s)
Glaucoma , Child , Humans , Glaucoma/therapy , Randomized Controlled Trials as Topic , Intraocular Pressure , Outcome Assessment, Health Care , IndiaABSTRACT
Congenital malformations of the eye can cause blindness in children. They occur throughout the world and in most cases the aetiology is unknown. Linkage studies have largely been unsuccessful and the risk to siblings is generally low. Epidemiological and laboratory evidence support a hypothesis that there may be genetic (recessive) predisposition to the teratogenetic effects of mild to moderate maternal vitamin A deficiency (VAD) during pregnancy. This may explain the higher prevalence of congenital eye anomalies in a part of Asian countries, where maternal VAD is common and consanguineous marriages are popular. Other congenital malformations commonly found in association with ocular coloboma (e.g. oesophageal fistulae and heart defects in CHARGE association) may also be VAD related. Mutations in a gene involved in the cellular access to vitamin A that normally protects the tissue or embryo from natural variation in dietary vitamin A intake, could render that individual intolerant of conditions of VAD. An interaction of this kind could also explain a proportion of "sporadic" cases in locations where VAD is uncommon. If this interaction is shown to be true, there are public health implications for the prevention of blindness due to congenital eye malformations. The hypotheses proposed above are reminiscent of the research leading to the discovery that folic acid supplementation could prevent neural tube defects. However, this form of intervention would be much more difficult with vitamin A, which is itself a powerful teratogen if present in excess.
Subject(s)
Eye Abnormalities/genetics , Eye Abnormalities/prevention & control , Genetic Predisposition to Disease , Vitamin A Deficiency/pathology , Anophthalmos/genetics , Coloboma/genetics , Female , Genes, Recessive , Humans , Microphthalmos/genetics , Mutation , Pregnancy , Pregnancy ComplicationsABSTRACT
Developmental eye defects such as coloboma are a significant cause of visual morbidity in children, and are more common in India than elsewhere. The possible role of environmental factors in the aetiology of these conditions was investigated by studying birth order, symptoms of vitamin A deficiency (night blindness), drug use and maternal illness in pregnancy, rubella antibodies and exposure to agricultural chemicals. Through hospital records and community-based rehabilitation programmes in Andhra Pradesh, children with colobomata were recruited from schools for the blind. Eighty-three mothers of affected children were interviewed. The results showed that 43% of parents were consanguineous, that 19% had a positive family history and that the frequency of coloboma was highest in second-born children. Eleven (16%) mothers had a history of night blindness while pregnant with the affected child; seven (8%) took medication during the 1st trimester, abortifacients in two cases; three reported fever in the 1st trimester; and 11 (13%) reported exposure to agricultural chemicals.
Subject(s)
Environmental Exposure , Eye Abnormalities/embryology , Prenatal Exposure Delayed Effects , Abnormalities, Multiple/embryology , Abnormalities, Multiple/genetics , Adolescent , Adult , Agrochemicals/adverse effects , Birth Order , Child , Child, Preschool , Coloboma/embryology , Coloboma/genetics , Consanguinity , Eye Abnormalities/genetics , Female , Humans , Infant , Infant, Newborn , Male , Microphthalmos/embryology , Microphthalmos/genetics , Middle Aged , Pregnancy , Pregnancy Complications , Risk Factors , Vitamin A Deficiency/complicationsABSTRACT
We report the first described association of natal teeth with congenital hydrocephalus and congenital glaucoma, anterior segment dysgenesis with non-attachment of the retina. The clinical findings support a diagnosis of Walker-Warburg syndrome. The forkhead 7 transcription factor gene is proposed as a candidate gene for this syndrome.
