AAMR syndrome in a 22-month-old and literature review.

PURPOSE: Alacrima is characterized by severely decreased or deficient tear production. It can be associated with systemic findings; most commonly Triple-A Syndrome with alacrima, achalasia, and adrenal dysfunction. METHODS: A case report and review of the literature. RESULTS: A 22-month-old boy with cognitive delay presented with a lack of tearing. MRI brain and orbits showed a bilateral absence of lacrimal glands. Biochemical testing revealed normal adrenal function. Genetic testing showed no abnormalities in the AAAS gene. Mutations in the AAAS gene are associated with Triple-A syndrome. Whole-exome sequencing did reveal compound heterozygosity for the GMPPA gene, and mutations in the GMPPA gene have been associated with AAMR syndrome with alacrima, achalasia, and mental retardation. A literature review revealed all AAMR syndrome patients with consanguineous parents. This is the first reported case of AAMR syndrome in non-consanguineous parents. CONCLUSIONS: In children older than 6 months old with decreased or deficient tear production, systemic work-up should include radiographic, biochemical, and genetic testing. Conditions associated with alacrima include familial dysautonomia, anhidrotic ectodermal dysplasia, Triple-A syndrome, and AAMR syndrome. One key clinical difference between the two syndromes is that patients with normal adrenal function have AAMR syndrome rather than Triple-A syndrome. After a child has a diagnosis with alacrima, these patients should be evaluated closely by a pediatric multidisciplinary team. Treatment for alacrima depends on the severity of ocular symptoms and ranges from the use of lubricant tears and ointment to moisture chambers.

Socioeconomic and Geographic Disparities in Idiopathic Intracranial Hypertension.

OBJECTIVE: To identify relationships between idiopathic intracranial hypertension (IIH) and socioeconomic determinants of health, such as low-income status and proximity to healthy food. METHODS: This retrospective case-control study of adult female neuro-ophthalmology patients from one institution identified 223 women with and 4,783 women without IIH. Street addresses were geocoded and merged with US census data to obtain census tract-level information on income and food access. Choropleth maps visualized IIH clusters within certain neighborhoods. Logistic regression compared the proportion of patients with IIH from racial and ethnic minority backgrounds, low-income census tracts, and food deserts and swamps to controls without IIH. RESULTS: In our cohort, when adjusted for age, women with IIH were more likely to be Black (odds ratio [OR] 3.96, 95% confidence interval [CI] 2.98-5.25), Hispanic (OR 2.23, 95% CI 1.14-4.36), and live in low-income tracts (OR 2.24, 95% CI 1.71-2.95) or food swamps (OR 1.54, 95% CI 1.15-2.07). Patients with IIH were less likely to live in food deserts than controls (OR 0.61, 95% CI 0.45-0.83). The association between Black race and IIH remained significant even after adjusting for other variables. CONCLUSION: IIH is more common among Black and Hispanic women than expected even when accounting for the demographics of a metropolitan city. Some of this relationship is driven by the association of obesity and IIH incidence with low income and proximity to unhealthy foods.

Management of Blood Pressure in Patients with Glaucoma.

PURPOSE OF REVIEW: Ocular perfusion pressure (OPP) is defined as the difference between BP and intraocular pressure (IOP). With low BP comes low OPP and resultant ischemic damage to the optic nerve, leading to glaucoma progression. The purpose of this article is to review the literature on BP as it relates to glaucoma and to create a forum of discussion between ophthalmologists and internal medicine specialists. RECENT FINDINGS: Both high and low BP has been linked glaucoma. Low BP is particularly associated with glaucoma progression in normal-tension glaucoma (NTG) patients. Patients who have low nighttime BP readings are at highest risk of progression of their glaucoma. Internal medicine specialists and ophthalmologists should consider the relationship between BP and glaucoma when treating patients with concomitant disease. Too-low nighttime BP should be avoided. Ambulatory blood pressure monitoring is a useful tool to identify patients at greatest risk for progression.

Bilateral Idiopathic Sclerochoroidal Calcifications.

BACKGROUND: Sclerochoroidal calcification (SCC) is a rare and benign condition found mostly in middle-aged and elderly Caucasian men, characterized by multiple yellow-white lesions seen most commonly in the temporal regions of the fundus. While they may be concerning for benign tumors, primary neoplasias or metastases, SCCs most commonly present as asymptomatic findings during routine ophthalmologic testing and have a very good prognosis as they rarely cause visual deficits. OBJECTIVE: To report and describe the findings in a case of bilateral idiopathic sclerochoroidal calcifications. METHODS: A retrospective case report. RESULTS: Repeated ophthalmological exams, including fundoscopic examination, ultrasonography, optical coherence tomography and fluorescein angiography, were all consistent bilateral idiopathic sclerochoroidal calcifications. CONCLUSION: While most cases of idiopathic sclerochoroidal calcifications represent a benign ophthalmological condition, there are known associations with other systemic conditions, such as hyperthyroidism, hyperparathyroidism, Bartter's syndrome and Gitelman's syndrome. It is for this reason that these patients warrant a full systemic work-up in addition to careful ophthalmological monitoring.