Down syndrome is the most common cause of cognitive impairment and presents clinically with universally recognizable signs and symptoms. In this study, we focus on exam findings and digital facial analysis technology in individuals with Down syndrome in diverse populations. Photos and clinical information were collected on 65 individuals from 13 countries, 56.9% were male and the average age was 6.6 years (range 1 month to 26 years; SD ¼ 6.6 years). Subjective 42findings showed that clinical features were different across ethnicities (Africans, Asians, and Latin Americans), including brachycephaly, ear anomalies, clinodactyly, sandal gap, and abundant neck skin, which were all significantly less frequent in Africans (P < 0.001, P < 0.001, P < 0.001, P < 0.05, and P < 0.05, respectively). Evaluation using a digital facial analysis technology of a larger diverse cohort of newborns to adults (n ¼ 129 cases; n ¼ 132 controls) was able to diagnose Down syndrome with a sensitivity of 0.961, specificity of 0.924, and accuracy of 0.943. Only the angles at medial canthus and ala of the nose were common significant findings amongst different ethnicities (Caucasians, Africans, and Asians) when compared to ethnically matched controls. The Asian group had the least number of significant digital facial biometrics at 4, compared to Caucasians at 8 and Africans at 7. In conclusion, this study displays the wide variety of findings across different geographic populations in Down syndrome and demonstrates the accuracy and promise of digital facial analysis technology in the diagnosis of Down syndrome internationally.

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Purpose:To evaluate the epidemiological characteristics and outcomes of ocular injuries resulting from the use of firecrackers during the Diwali festival in all age groups.Materials and Methods:A single-center, retrospective, hospital-based case series presenting with ocular trauma consequent to fireworks usage in a tertiary eye care center in North India during the 5 days of Diwali festival from 2011 to 2015 was conducted.Results:A total of 53 eyes of 45 patients were included in the study, out of which the vast majority (39/87%) were males. The mean age was 20.55 years. Almost an equal number of bystanders (25/55.5%) were affected as compared to people handling the fireworks (20/44.44%). Five (9.43%) eyes had open-globe injury, whereas 48 (90.56%) eyes had closed-globe injury. Eighteen (33.96%) eyes underwent surgical intervention. Thirty-three (62.26%) eyes had final vision >20/200 with eight (15.09%) eyes being vision <3/60 in the affected eye.Conclusion:Firework-related ocular trauma can lead to serious visual impairment. Mandatory legislative laws pertaining to the manufacture, sale, and use of fireworks and creating public awareness can reduce the incidence of this preventable cause of blindness in the society. Initiating new policies for retailers involved in sale of these firecrackers can also bring in decrease of such morbidities.

Congenital aniridia is a pan ocular disorder characterized by partial or total loss of iris tissue as the defining feature. Classic aniridia, however, has a spectrum of ocular findings, including foveal hypoplasia, optic nerve hypoplasia, nystagmus, late-onset cataract, glaucoma, and keratopathy. The latter three are reasons for further visual compromise in such patients. This entity is often due to mutations in the PAX6 (Paired box protein Pax-6) gene. Recently, aniridia-like phenotypes have been reported due to non- PAX6 mutations as in PITX2, FOXC1, FOXD3, TRIM44 , and CYP1B1 as well wherein there is an overlap of aniridia, such as iris defects with congenital glaucoma or anterior segment dysgenesis. In this review, we describe the various clinical features of classic aniridia, the comorbidities and their management, the mutation spectrum of the genes involved, genotype-phenotype correlation of PAX6 and non- PAX6 mutations, and the genetic testing plan. The various systemic associations and their implications in screening and genetic testing have been discussed. Finally, the future course of aniridia treatment in the form of drugs (such as ataluren) and targeted gene therapy has been discussed.