Visual impairment and multimorbidity in a representative sample of the Spanish population

BACKGROUND: In the context of population aging, visual impairment has emerged as a growing concern in public health. However, there is a need for further research into the relationship between visual impairment and chronic medical conditions in the elderly. The aim of our study was to examine the relationship between visual impairment and three main types of co-morbidity: chronic physical conditions (both at an independent and additive level), mental health and cognitive functioning. METHODS: Data were collected from the COURAGE in Europe project, a cross-sectional study. A total of 4,583 participants from Spain were included. Diagnosis of chronic medical conditions included self-reported medical diagnosis and symptomatic algorithms. Depression and anxiety were assessed using CIDI algorithms. Visual assessment included objective distance/near visual acuity and subjective visual performance. Descriptive analyses included the whole sample (n = 4,583). Statistical analyses included participants aged over 50 years (n = 3,625; mean age = 66.45 years) since they have a significant prevalence of chronic conditions and visual impairment. Crude and adjusted binary logistic regressions were performed to identify independent associations between visual impairment and chronic medical conditions, physical multimorbidity and mental conditions. Covariates included age, gender, marital status, education level, employment status and urbanicity. RESULTS: The number of chronic physical conditions was found to be associated with poorer results in both distance and near visual acuity [OR 1.75 (CI 1.38-2.23); OR 1.69 (CI 1.27-2.24)]. At an independent level, arthritis, stroke and diabetes were associated with poorer distance visual acuity results after adjusting for covariates [OR 1.79 (CI 1.46-2.21); OR 1.59 (CI 1.05-2.42); OR 1.27 (1.01-1.60)]. Only stroke was associated with near visual impairment [OR 3.01 (CI 1.86-4.87)]. With regard to mental health, poor subjective visual acuity was associated with depression [OR 1.61 (CI 1.14-2.27); OR 1.48 (CI 1.03-2.13)]. Both objective and subjective poor distance and near visual acuity were associated with worse cognitive functioning. CONCLUSIONS: Arthritis, stroke and the co-occurrence of various chronic physical diseases are associated with higher prevalence of visual impairment. Visual impairment is associated with higher prevalence of depression and poorer cognitive function results. There is a need to implement patient-centered care involving special visual assessment in these cases.

Factores determinantes del tiempo de demora y resultados funcionales en pacientes con desprendimiento de retina rhegmatógeno primario tratado mediante vitrectomía vía pars plana

Propósito: Determinar, en los pacientes afectados de desprendimiento de retina rhegmatógeno primario que acudieron a nuestro centro, el tiempo de demora entre la aparición de los primeros síntomas y la visita con el cirujano. Los objetivos secundarios son describir los factores que han influido en este tiempo de demora, determinar la relación existente entre el tiempo de evolución del desprendimiento rhegmatógeno de retina primario, el estado de la mácula y el resultado funcional tras la cirugía, y describir la sintomatología referida por los pacientes. Material y Método: Estudio descriptivo prospectivo de 59 ojos de 59 pacientes con desprendimiento de retina rhegmatógeno primario que acudieron al servicio de oftalmología del hospital Vall d’Hebron entre marzo y junio del 2008. Se realizó una anamnesis y exploración oftalmológica detallada a su llegada, fueron sometidos a cirugía mediante vitrectomía vía pars plana y se les realizó un seguimiento mínimo de 6 meses determinando los resultados funcionales de la cirugía. Resultados: El tiempo de demora medio desde la aparición de los síntomas hasta la primera consulta con el facultativo fue de 4,10 días. La media del tiempo de evolución del desprendimiento rhegmatógeno de retina fue de 17,03 días. Un 84,1% de los pacientes con la mácula desprendida tenían un tiempo de evolución menor o igual a 15 días y un 15,9% un tiempo de evolución mayor a 15 días. La agudeza visual media postoperatoria de los pacientes con la mácula aplicada fue de 0,55 en escala decimal, en los pacientes con la mácula afectada de menos de 15 días de evolución fue de 0,41, y en los pacientes con la mácula afectada de más de 15 días de evolución fue de 0,33. El síntoma más frecuente fue la visión borrosa (98,3%), seguido de miodesopsias (28,8%). Conclusiones: El tiempo de demora entre la aparición de los primeros síntomas del DRR y la visita con el cirujano es superior desde la remisión al cirujano por parte del facultativo que desde la aparición de síntomas y consulta con el facultativo por el paciente. La subestimación de la gravedad por parte del paciente es la causa de demora referida más frecuente. Los pacientes con un mayor tiempo de evolución tienen un mayor porcentaje de afectación macular. Los pacientes con la mácula aplicada han tenido un mejor resultado funcional tras la cirugía del DRR que los pacientes con la mácula desprendida.

The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild

BACKGROUND: The only known albino gorilla, named Snowflake, was a male wild born individual from Equatorial Guinea who lived at the Barcelona Zoo for almost 40 years. He was diagnosed with non-syndromic oculocutaneous albinism, i.e. white hair, light eyes, pink skin, photophobia and reduced visual acuity. Despite previous efforts to explain the genetic cause, this is still unknown. Here, we study the genetic cause of his albinism and making use of whole genome sequencing data we find a higher inbreeding coefficient compared to other gorillas.RESULTS: We successfully identified the causal genetic variant for Snowflake's albinism, a non-synonymous single nucleotide variant located in a transmembrane region of SLC45A2. This transporter is known to be involved in oculocutaneous albinism type 4 (OCA4) in humans. We provide experimental evidence that shows that this amino acid replacement alters the membrane spanning capability of this transmembrane region. Finally, we provide a comprehensive study of genome-wide patterns of autozygogosity revealing that Snowflake's parents were related, being this the first report of inbreeding in a wild born Western lowland gorilla.CONCLUSIONS: In this study we demonstrate how the use of whole genome sequencing can be extended to link genotype and phenotype in non-model organisms and it can be a powerful tool in conservation genetics (e.g., inbreeding and genetic diversity) with the expected decrease in sequencing cost.