Case Series: Underdiagnosis of Ocular and Oculocutaneous Rosacea in an African American Pediatric Population.

SIGNIFICANCE: As the global multiracial population grows, this case series highlights the current underdiagnosis and misdiagnosis of ocular and oculocutaneous rosacea and the importance of properly identifying the condition in a darkly pigmented pediatric population. PURPOSE: This series aims to report the clinical presentation of ocular and oculocutaneous rosacea and adverse sequelae of misdiagnosis in two pediatric African American patients. CASE REPORT: One 11-year-old boy and one 10-year-old girl, both darkly pigmented African American patients, presented with a history of chronic ocular irritation. The male patient was seen by an eye care provider eight times over the past 7 years for recurrent anterior ocular inflammation. The female patient presented to the clinic with chronic anterior segment ocular inflammation for 1 year. Both patients were previously treated for their acute signs and symptoms. The male patient was diagnosed with ocular rosacea, and the female patient was diagnosed with oculocutaneous rosacea. Both patients were subsequently treated for their underlying inflammatory condition, yielding an improvement in their ocular health. CONCLUSIONS: These two cases bring attention to the underdiagnosis and misdiagnosis of ocular and oculocutaneous rosacea in pediatric patients with darkly pigmented skin. Timely and accurate diagnosis is critical to minimize the risk of significant visual and dermatological sequelae.

Disease-Gene Networks of Skin Pigmentation Disorders and Reconstruction of Protein-Protein Interaction Networks.

Melanin, a light and free radical absorbing pigment, is produced in melanocyte cells that are found in skin, but also in hair follicles, eyes, the inner ear, heart, brain and other organs. Melanin synthesis is the result of a complex network of signaling and metabolic reactions. It therefore comes as no surprise that mutations in many of the genes involved are associated with various types of pigmentation diseases and phenotypes ('pigmentation genes'). Here, we used bioinformatics tools to first reconstruct gene-disease/phenotype associations for all pigmentation genes. Next, we reconstructed protein-protein interaction (PPI) networks centered around pigmentation gene products ('pigmentation proteins') and supplemented the PPI networks with protein expression information obtained by mass spectrometry in a panel of melanoma cell lines (both pigment producing and non-pigment producing cells). The analysis provides a systems network representation of all genes/ proteins centered around pigmentation and melanin biosynthesis pathways ('pigmentation network map'). Our work will enable the pigmentation research community to experimentally test new hypothesis arising from the pigmentation network map and to identify new targets for drug discovery.

Visual and Ocular Conditions among a Homeless Adult Population of Boston.

SIGNIFICANCE: The eye care needs of the homeless population in the United States are not well known. This study elucidates those needs for health care for the homeless programs and eye care practitioners. This information could result in an increase in the provision of necessary eye care services. PURPOSE: The purpose of this study was to assess the extent of visual and ocular conditions, the frequency of eyeglass orders and receipt of eyeglasses, and the frequency of ophthalmology referrals and receipt of ophthalmological care in an adult homeless population in Boston. METHODS: A cross-sectional retrospective chart review was conducted for patients of the Boston Health Care for the Homeless Program's Pine Street Inn eye clinic from September 26, 2016, to December 31, 2017. Data on sociodemographics, medical history, comprehensive eye examination findings, glasses orders and receipt, and ophthalmology referrals and receipt of care were collected and analyzed. RESULTS: A total of 424 patients were included in the study. The mean age of the study population was 52.7 (interquartile range, 46 to 60), and the majority were male (74%). The most common systemic conditions were hypertension (40.6%) and diabetes (23.8%). The most common refractive error was presbyopia (67.7%), followed by astigmatism (38.9%), hyperopia (34.0%), and myopia (30.7%). The most common ocular conditions were dry eye (28.6%), visually or clinically significant cataract (20%), and glaucoma/glaucoma suspicion (13.9%). Refractive correction was indicated for 356 patients (84%), but 82 (29%) did not receive ordered eyeglasses. Ophthalmology referrals were placed for 61 patients (14.4%), yet only 20 (32.8%) of those referrals were completed. CONCLUSIONS: A significant need for refractive correction and a large gap for ophthalmological care were found among the study population. Health care for the homeless programs and eye care practitioners should be aware of the visual and ocular needs of this patient population so as to better meet their needs.