Ocular signs, visual and general developmental outcome in Indian children with radiologically proven periventricular leukomalacia

Purpose: Owing to the paucity of literature on Indian children with periventricular leukomalacia (PVL), this retrospective study aimed to describe the visual and associated developmental abnormalities in a series of affected children attending a tertiary level eye care facility. Methods: Children with radiologically confirmed PVL who attended the Pediatric Department of a tertiary eye hospital were included and underwent a detailed ocular and general developmental assessment. Results: Of the 75 children, the mean age was 2.3 years, the mean follow?up was 3.1 years, 68% were males and 43% were born preterm. Grade I PVL was identified in 13 children (17%), Grade 2 PVL in 39 (52%), and Grade 3 PVL in 23 (31%). Premies with ?2 kg (72.5%) and term babies with >2 kg (75%) had a greater association of PVL occurrence with a preponderance to severe PVL; 46% of the children were visually impaired which was significantly higher in the children with Grade 3 PVL (74%) than those with Grade 2 PVL (15%). Strabismus was common (80%) with a change in deviation over time. Seventy?one percent of the children had a refractive error, frequently myopic astigmatism. All the children except two had a delay in one or more general developmental milestones. Conclusion: PVL occurrence is observed both in the babies born at term and premies, resulting in significant ocular and systemic morbidities. We recommend a system in place for early identification and referral to initiate an early intervention program which goes a long way toward improving the quality of life in these children

Genotype/phenotype association in indian congenital aniridia.

The developmental birth eye disorder of iris is known as aniridia. Heterozygous PAX6 gene, which causes human aniridia and small eye in mice, is located on chromosome 11p13. The variability had been documented between the affected individuals within the families, is due to genotypic variation. Haploinsufficiency renders PAX6 allele non-functional or amorphic, however it presents hypomorphic or neomorphic alleles. India is not a well-studied ethnic group, hence the focus on congenital aniridia gene analysis supports the literature and the phenotypic association were analysed both in sporadic as well as familial. The consistent association of truncating PAX6 mutations with the phenotype is owing to non-sensemediated decay (NMD). It is presumed that the genetic impact of increased homozygosity and heterozygocity in Indian counter part arises as the consequence of consanguineous marriages. The real fact involved in congenital aniridia with other related phenotypes with PAX6 mutations are still controversial.

Electroretinographic assessment and diagnostic reappraisal of children with visual dysfunction: a prospective study.

PURPOSE: To assess the presence or absence of a retinal cause of visual impairment using electroretinography (ERG) in children with no obvious discernable cause on ocular examination. DESIGN: Prospective observational case series. MATERIALS AND METHODS: A prospective study was carried out involving 120 children with the mean age 4.4+/-3.2 years with visual dysfunction. All children underwent ERG under general anesthesia using a special handheld mini-Ganzfeld (Kurbisfeld) dome. RESULTS: Fifty-two (43.3%) children were male and 68 (56.7%) were female. The clinical diagnosis was as follows: Leber's congenital amaurosis (LCA) (n=47), achromatopsia (n=25), congenital stationary night blindness (CSNB) (n=9) and others (unclassifiable, n=39). The visual acuity ranged from perception of light (PL) to PL with projection in children with LCA. In the rest (n=73), some sort of visually guided behavior was discernable. Following ERG, a diagnostic reappraisal resulted as follows: LCA (n=49), achromatopsia (n=28), CSNB (n=4), cone-rod dystrophy (n=22), rod-cone degeneration (n=7), normal (n=8) and others (unclassifiable, n=2). Except for the two unclassifiable cases, ERG was successful in the diagnosis or exclusion of retinal dysfunction in the rest. By Pearson Chi-square test, there was a statistically significant association between the clinical and ERG diagnosis (P < 0.001). CONCLUSION: LCA was the commonest cause of visual dysfunction in our series. A statistically significant correlation between clinical and electrophysiological diagnosis was seen. ERG helped in firmly establishing the presence or absence of global retinal dysfunction in the majority (118/120) of pediatric patients with visual dysfunction.

Retinitis pigmentosa associated with blepharophimosis, blue dot cataract and primary inferior oblique overaction: a new syndrome complex?

A 15-year-old girl with retinitis pigmentosa, blepharophimosis, blue dot cataract and primary overaction of inferior oblique muscle in both the eyes is being reported. Computerized search using Medline did not reveal any such previously reported association.

Immune status of health care personnel & post vaccination analysis of immunity against rubella in an eye hospital.

BACKGROUND & OBJECTIVES: Congenital rubella syndrome (CRS) accounts for a significant amount of mortality and morbidity in India. Rubella vaccination is not included in our national immunization programme. Occupational exposure of the health care personnel to rubella infection is well known. This study aims to assess the serological status of health care workers against rubella virus in Aravind Eye Care System, Madurai and to follow the immune response in the seronegative individuals after vaccination. METHODS: A total of 500 female and 81 male workers were enrolled in the study. Blood sample was collected for the analysis of rubella specific IgM and IgG antibodies. The seronegative individuals were vaccinated with monovalent rubella vaccine, RA 27/3. The post-vaccination samples were analysed for the antibody levels and their avidity using enzyme immunoassay. RESULTS: Of the 581 volunteers, 493 were seropositive with good protective immunity and 22 had both IgM and IgG antibodies. Sixty six volunteers (59 females and 7 males) were found to be seronegative to rubella. The seroconversion was observed in all the sixty vaccinated individuals, as seen by the appearance of anti-rubella IgG antibodies by fourth week, reaching the peak protective levels (>20 IU/ml) by third month. There was also a progressive increase in the avidity after vaccination. INTERPRETATION & CONCLUSION: Nearly 11.4 per cent of the health care workers were found to be seronegative for rubella virus and after vaccination, these volunteers developed a good protective immunity, thereby reducing the risk of contracting the hospital based rubella infection. Therefore, rubella vaccination may be instituted in hospitals for the benefit of health care workers.

Perceptions of eye diseases and eye care needs of children among parents in rural south India: the Kariapatti Pediatric Eye Evaluation Project (KEEP).

We conducted 24 focus group discussions for parents and grandparents as part of a population-based survey of ocular morbidity to determine awareness and perceptions of eye diseases in children among parents and guardians of children in a rural south Indian population. Focus group discussions were conducted separately for mothers, fathers and grandparents. They were audiotaped and subsequently transcribed to the local language and English. Content analysis of the focus group discussions was done to identify key concepts, and this yielded five broad areas of interest relating to awareness and attitudes towards: 1) eye problems in children, 2) specific eye diseases in children, 3) vision problems in children, 4) existing health practices, and 5) utilization of services. Vision impairment did not figure in the top ten eye problems cited for children. There was a predominant belief that children below 4 years should not wear spectacles. Strabismus was considered as untreatable and was seen as a sign of good luck. Differing advice provided by the medical community for the same condition was an issue. The discussions also brought out that eye doctors were approached last for eye care, after traditional healers and general physicians. The discussions raise several issues of relevance that eye care programs need to address for better community involvement with programs. This will require a far greater focus than the current curative focus adopted by most programs.