An application of data mining to identify potential risk factors for anophthalmia and microphthalmia.

BACKGROUND: We examined a large number of variables to generate new hypotheses regarding a wider range of risk factors for anophthalmia/microphthalmia using data mining. METHODS: Data were from the National Birth Defects Prevention Study, a multicentre, case-control study from 10 centres in the United States. There were 134 cases of "isolated" and 87 "nonisolated" (with other major birth defects) of anophthalmia/microphthalmia and 11 052 nonmalformed controls with delivery dates October 1997-December 2011. Using random forest, a data mining procedure, we compared the two case types with controls for 201 variables. Variables considered important ranked by random forest were included in a multivariable logistic regression model to estimate odds ratios and 95% confidence intervals. RESULTS: Predictors for isolated cases included paternal race/ethnicity, maternal intake of certain nutrients and foods, and childhood health problems in relatives. Using regression, inverse associations were observed with greater maternal education and with increasing intake of folate and potatoes. Odds were slightly higher with greater paternal education, for increased intake of carbohydrates and beans, and if relatives had a childhood health problem. For nonisolated cases, predictors included paternal race/ethnicity, maternal intake of certain nutrients, and smoking in the home the month before conception. Odds were higher for Hispanic fathers and smoking in the home and NSAID use the month before conception. CONCLUSIONS: Results appear to support previously hypothesised risk factors, socio-economic status, NSAID use, and inadequate folate intake, and potentially provide new areas such as passive smoking pre-pregnancy, and paternal education and ethnicity, to explore for further understanding of anophthalmia/microphthalmia.

Nutrient intake in women before conception and risks of anophthalmia and microphthalmia in their offspring.

BACKGROUND: We previously explored associations between nutrients including folate and other macro and micronutrients and risks of anophthalmia or microphthalmia in the National Birth Defects Prevention Study. In the current study, we expand those previous results with larger sample sizes and conduct analyses with an additional diet quality index using more recent data. METHODS: The National Birth Defects Prevention Study is a population-based, multicenter case-control study of over 30 major birth defects, with estimated due dates from October 1997 to December 2011. Cases were 224 infants diagnosed with anophthalmia or microphthalmia. Controls were 11,109 live-born, nonmalformed infants randomly selected by each study center. Mothers completed a standardized, computer-assisted telephone interview between 6 weeks and 24 months after delivery. Mothers responded to a shortened food frequency questionnaire, assessing their nutrient intake for the year before pregnancy, and questions about periconceptional (2 months before to 2 months after conception) vitamin supplement use. Nutrient intake quartiles were based on the intake among controls. RESULTS: Among vitamin supplement users, odds of anophthalmia/microphthalmia were decreased for women with intake levels in the highest quartile of folate (0.56, 95% confidence interval [CI] 0.32-0.98), magnesium (0.42, 95% CI 0.22-0.82), and vitamin E (0.50, 95% CI 0.29-0.89). Among women not reporting vitamin supplement use, the odds were significantly increased for beta-carotene (2.5, 95% CI 1.10-5.68) and decreased for retinol (0.37, 95% CI 0.19-0.73). CONCLUSIONS: In this expanded analysis, we observed associations for a few nutrients, specifically forms of vitamin A. However, the heterogeneity of results by form and vitamin use necessitates further inquiry.

Serial sub-conjunctival 5-Fluorouracil for early recurrent anophthalmic contracted socket.

BACKGROUND: To evaluate the effects and side-effects of serial sub-conjunctival injections of 5-fluorouracil (5-FU) in early postoperative period for recurrent anophthalmic contracted socket. METHODS: Retrospective comparative case series at tertiary eye care centre including fifteen adult patients with features of postoperative recurrent socket contraction after buccal mucosal graft. Group A comprised eight patients treated with 10 mg weekly sub-conjunctival injection of 5-FU in the fornices. Group B comprised seven patients taken as control. Main outcome measures were: superior fornix depth (SFD), inferior fornix depth (IFD), and socket volume (SV) at 6 months follow up. Patients were re-evaluated clinically for recurrence at last follow-up. RESULTS: The mean ± SD values in group A versus group B were as follows: 10 ± 1.6 mm vs 5.1 ± 0.9 mm (p < 0.005) for SFD, 6.7 ± 1.5 mm vs 3.5 ± 0.5 mm (p = 0.02) for IFD; and 2 ± 0.55 ml versus 0.27 ± 0.06 ml (p = 0.005) for SV at 6 months. There was significant improvement in depth of fornices and volume of socket in seven patients in group A. One patient in group A did not benefit from 5-FU treatment. The beneficial effects of 5-FU were observed when first injection was given within 4 weeks after socket reconstruction. There was no recurrence (in six cases) and no side-effects seen in group A at final follow-up of 18.2 (12-24) months. CONCLUSIONS: Weekly injections of 5-FU are effective for stopping the progression of recurrent contracted socket following primary reconstructive surgery. It provides early rehabilitation, and avoids repetitive surgery.

Ophthalmo-acromelic syndrome in a Turkish infant: case report.

Ophthalmo-acromelic syndrome (OAS) is an extremely rare autosomal recessive disorder characterised by eye malformations ranging from true anophthalmia to mild microophthalmia and acromelic malformations. In this article, we report a newborn infant with OAS because of its rare presentation. He was the fourth sibling affected in the family. The parents were healthy but there was a close blood relationship between the parents. Physical examination revealed bilateral true anophthalmia and oligodactyly (bilateral four toes) on the feet. He had no other additional abnormalities. We consider that this rare syndrome could be relatively more common in our country because six Turkish cases of OAS have been reported in the English literature to date.