Spontaneous scleral rupture associated with retinochoroidal coloboma / Ruptura espontânea de esclera associada a coloboma coriorretiniano

Abstract We reported a case of ocular hypotony due to spontaneous scleral rupture in retinochoroidal coloboma and the treatment which was performed. This is a prospective case report in which a 21-year-old woman complained of abrupt vision loss in her left eye. Ocular hypotony due to spontaneous scleral rupture in retinochoroidal coloboma was identified through tests. An ultrassonography confirmed the scleral lesion but magnetic resonance imaging and fluorescein angiography have also proven to be useful. Due to the posterior location of the perforation, we opted for a sub-tenon injection of autologous blood and intraocular gas tamponade, which were successful, resulting in improved visual acuity and intraocular pressure. In this case, an alternative to invasive surgical procedure in the treatment of spontaneous scleral perforation and retinochoroidal coloboma was presented.

Resumo Relatamos um caso de hipotensão ocular secundária a ruptura escleral espontânea em coloboma coriorretiniano e o tratamento realizado. Trata-se de estudo de caso prospectivo de uma mulher de 21 anos de idade que se apresentou queixando perda súbita de visão no olho esquerdo. Ao exame, foi evidenciado hipotensão ocular em virtude de ruptura espontânea de esclera em coloboma coriorretiniano. Ultrassonografia confirmou a lesão da esclera embora ressonância magnética e angiofluoresceinografia também tenham sido úteis. Em virtude da localização posterior da perfuração, optamos por injeção sub-tenoniana de sangue autólogo e tamponamento intraocular com gás, que demonstraram ser úteis, resultando em melhora da acuidade visual e da pressão intraocular. Neste caso, apresentamos uma alternativa a procediemnto cirúrgico invasivo para tratamento de perfuração espontânea de esclera em coloboma coriorretiniano.

Previously undescribed phenotypic findings and novel ACTG1 gene pathogenic variants in Baraitser-Winter cerebrofrontofacial syndrome.

Baraitser-Winter cerebrofrontofacial syndrome is an autosomal dominant disease characterized by multiple congenital abnormalities and intellectual disability, which is caused by mutations in either the ACTB or ACTG1 genes. In this report, we described novel phenotypic findings in two Mexican patients with the disorder in whom two novel ACTG1 mutations (c.176A > G, p.Gln59Arg; and c.608C > T, p.Thr203Met) were identified.