Bhavna P. Sheth

Autosomal dominant iris hypoplasia is caused by a mutation in the rieger syndrome (rieg/pitx2) gene

PURPOSE To determine whether autosomal dominant iris hypoplasia is caused by mutations in the newly described gene for Rieger syndrome (RIEG/PITX2). METHOD Mutation screening and sequence analysis was performed in a single family. RESULTS A novel mutation in the RIEG/PITX2 gene was found in all affected but no unaffected individuals. This mutation would be expected to result in an arginine to tryptophan amino acid change in the homeodomain of solurshin, the RIEG/ITX2 gene product. CONCLUSION Autosomal dominant iris hypoplasia is caused by a defect in the same gene that is defective in many cases of Rieger syndrome.

Ocular complications of pregnancy.

Pregnancy is often associated with ocular changes, most often transient in nature, though occasionally permanent. It can be associated with development of new conditions, or can exacerbate pre-existing conditions. The ocular effects of pregnancy may be divided into physiologic changes, pathologic conditions or modifications of pre-existing conditions. Pathologic conditions include entities such as pre-eclampsia and eclampsia, along with conditions that are seen with increased frequency during pregnancy such as central serous retinopathy. The most significant modified pre-existing condition is diabetes mellitus. The various effects of pregnancy on the eye will be reviewed in this article.

Accuracy of surrogate decision making in elective surgery

PURPOSE: To assess the accuracy of surrogate decision making for elective cataract surgery. SETTING: Comprehensive Ophthalmology Department of Tertiary Care Hospital. METHODS: Decisions regarding elective cataract surgery of currently competent, elderly patients were compared with the predictions of patient‐identified surrogate decision makers in scenarios of current state of mental health and progressive dementia. Patients were identified (age >50 years, Mini‐Mental Status Score >20, absence of significant noncataract pathology) consecutively at a scheduled clinic visit to a single provider. Preferences for cataract surgery in the current state of health and hypothetical progressive dementia were assessed on a Likert scale. The same interviewer contacted patient‐identified surrogate decision makers within 48 hours. Independently, a survey of community ophthalmologists was performed. The concordance of surrogate predictions with patient preferences (32 pairs) was assessed using percentage agreement, the κ coefficient with dichotomous Likert scale data, and chi‐square analyses (concordance beyond chance). RESULTS: In their current state of health, most patients said they would prefer to have surgery if they were deemed to have a visually significant cataract, which was accurately predicted by surrogates (72% agreement, κ = 0.65, chi square = 16.5). In a hypothetical dementia scenario, contrary to perceptions of patients and their surrogates, proxies were unable to accurately represent a patients wishes for elective cataract surgery (34% agreement, κ = 0.23, chi square = 14.4). Physicians tended to withhold intervention in the dementia scenario. CONCLUSIONS: The findings suggest that current methods of decision making in elective surgery for patients unable to make autonomous decisions may be seriously flawed. This extends previous findings of inaccuracy with the substituted judgment approach to end‐of‐life issues to reflect elective surgical scenarios.

Ocular Manifestations of Pregnancy

Pregnancy may be associated with ocular changes, which most often are transient in nature. It can exacerbate preexisting conditions or be associated with development of new conditions. The ocular effects of pregnancy may be divided into physiologic changes, pathologic conditions, or modifications of preexisting conditions. Pathologic conditions include entities such as preeclampsia and eclampsia, along with conditions that are seen with increased frequency during pregnancy such as central serous chorioretinopathy. The most significant modified preexisting condition is diabetes mellitus. The various effects of pregnancy on the eye will be reviewed throughout this chapter.