Cataract in a patient with the Alport syndrome and diffuse Leiomyomatosis / Catarata em paciente com sindrome de alport e leiomiomatose difusa

We describe a case of painless progressive loss of vision in a 15 years old male patient with Alport syndrome and diffuse Leiomyomatosis. After a comprehensive history and ocular examination, a diagnosis of bilateral posterior subcapsular cataracts was given. Patient underwent cataract extraction. His best corrected post-operative visual acuity was 20/25 in both eyes. We conclude that posterior subcapsular cataracts may lead to painless and progressive loss of vision in patients with Alport syndrome and Diffuse Leiomyomatosis.

Nós descrevemos o caso de perda visual progressiva indolor em um paciente de 15 anos, /sexo masculino, com Síndrome de Alport e Leiomiomatose difusa. Após história completa e exame oftalmológico, foi feito o diagnóstico de catarata subcapsular posterior bilateral. O paciente foi submetido à cirurgia de catarata. Nós concluímos que cataratas subcapsulares posteriores podem levar a perda visual progressiva e indolor em pacientes com Síndrome de Alport e Leiomiomatose Difusa.

Posibles vertientes del gene del síndrome de Hermansky-Pudlak en Puerto Rico / Possible origins of the gene of Hermansky-Pudlak in Puerto Rico

Five out of six albino persons in Puerto Rico suffer from the Hermansky-Pudlak syndrome. This syndrome has been reported also in other countries such as Great Britain, the Netherlands, Belgium, and Mexico, among others. Due to the geographical isolation of the island it is likely that these patients share a common ancestor. In explaining how the gene may have arrived to Puerto Rico the following possibilities are considered: (1) British soldiers attacking the island since 1595. (2) Dutch attackers in 1625. (3) aboriginal tribes. (4) slave traders