Microphthalmia/anophthalmia is a clinically heterogeneous disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. The genetic defect underlying isolated autosomal recessive microphthalmia/anophthalmia is yet unclear. We studied four families (two of Arab origin, one of Bedouin origin, and one of Persian-Jewish origin) with autosomal recessive microphthalmia/anophthalmia and no associated eye anomalies, and one Syrian-Jewish family with associated colobomas. Assuming a founder effect in each of the families, we performed homozygosity mapping using polymorphic markers adjacent to human homologues of genes known to be associated with eye absence in various species, namely EYA1, EYA2, EYA3, SIX4, SIX6, PAX6 and CHX10. No association was found with EYA1, EYA2, EYA3, SIX6 or PAX6. In two families, linkage analysis was consistent with possible association with SIX4, but no mutations were found in the coding region of the gene or its flanking intron sequences. In three of the five families, linkage analysis followed by sequencing demonstrated that affected individuals in each family were homozygous for a different CHX10 aberration: a mutation in the CVC domain and a deletion of the homeobox domain were found in two Arab families, and a mutation in the donor-acceptor site in the first intron in the Syrian-Jewish family. There was phenotypic variation between families having different mutations, but no significant phenotypic variation within each family. It has been previously shown that mutations in a particular nucleotide in CHX10 are associated with an autosomal recessive syndrome of microphthalmia/anophthalmia with iris colobomas and cataracts in two families. We now show that different mutations in other domains of the same gene underlie isolated microphthalmia/anophthalmia.

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Background Refugees experience multiple health and social needs. This requires an integrated approach to care in the countries of resettlement, including Canada. Perhaps, interactive eHealth tools could build bridges between medical and social care in a timely manner. The authors developed and piloted a multi-risk Computer-assisted Psychosocial Risk Assessment (CaPRA) tool for Afghan refugees visiting a community health center. The iPad based CaPRA survey was completed by the patients in their own language before seeing the medical practitioner. The computer then generated individualized feedback for the patient and provider with suggestions about available services. Methods A pilot randomized trial was conducted with adult Afghan refugees who could read Dari/Farsi or English language. Consenting patients were randomly assigned to the CaPRA (intervention) or usual care (control) group. All patients completed a paper-pencil exit survey. The primary outcome was patient intention to see a psychosocial counselor. The secondary outcomes were patient acceptance of the tool and visit satisfaction. Results Out of 199 approached patients, 64 were eligible and 50 consented and one withdrew (CaPRA = 25; usual care = 24). On average, participants were 37.6 years of age and had lived 3.4 years in Canada. Seventy-two percent of participants in CaPRA group had intention to visit a psychosocial counselor, compared to 46 % in usual care group [ X 2 (1)=3.47, p = 0.06]. On a 5-point scale, CaPRA group participants agreed with the benefits of the tool (mean = 4) and were ‘unsure’ about possible barriers to interact with the clinicians (mean = 2.8) or to privacy of information (mean = 2.8) in CaPRA mediated visits. On a 5-point scale, the two groups were alike in patient satisfaction (mean = 4.3). Conclusion The studied eHealth tool offers a promising model to integrate medical and social care to address the health and settlement needs of refugees. The tool’s potential is discussed in relation to implications for healthcare practice. The study should be replicated with a larger sample to generalize the results while controlling for potential confounders.