Corneal haze and elevated measured intraocular pressure in a young child with iris abnormalities are suggestive for glaucoma, but primary corneal disease is another possibility. We highlight the case of a 10-year-old boy with these clinical signs who was initially treated for glaucoma but in fact had congenital hereditary endothelial dystrophy, iris colobomas, and no glaucoma.
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http://dx.doi.org/10.1016/j.jaapos.2016.03.017 | DOI Listing |
J Inherit Metab Dis
January 2025
Department of Internal Medicine, Division of Endocrinology and Metabolic Disease, Maastricht University Medical Center+, Maastricht, The Netherlands.
Hereditary fructose intolerance (HFI) is characterized by liver damage and a secondary defect in N-linked glycosylation due to impairment of mannose phosphate isomerase (MPI). Mannose treatment has been shown to be an effective treatment in a primary defect in MPI (i.e.
View Article and Find Full Text PDFProg Retin Eye Res
December 2024
Health Management Center, the Third Xiangya Hospital, Central South University, Changsha 410013, China; Research Center of Medical Experimental Technology, the Third Xiangya Hospital, Central South University, Changsha 410013, China; Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha 410013, China; Disease Genome Research Center, Central South University, Changsha 410013, China. Electronic address:
Ptosis is defined as an abnormally low-lying upper eyelid margin on the primary gaze, generally resulting from a congenital or acquired abnormality of the nerves or muscles that control the eyelid. Ptosis can occur alone or concurrently as an ocular or systemic syndrome, and the prevalence of ptosis varies among different countries and populations. Isolated ptosis typically causes aesthetic problems in patients and can lead to functional ophthalmic problems in severe cases.
View Article and Find Full Text PDFFront Neurol
December 2024
Department of Cell and Developmental Biology, School of Biological Sciences, University of California, San Diego, La Jolla, CA, United States.
Hearing loss can profoundly impact an individual's quality of life, affecting communication, social interactions, and overall well-being. Many people with hearing impairment report feelings of isolation, frustration, and decreased confidence in social settings, which can lead to withdrawal from activities they once enjoyed. Genetics plays a significant role in congenital hearing loss, accounting for approximately half of all cases.
View Article and Find Full Text PDFImportance: The diagnosis of congenital auricular deformity often relies on the clinical experience of clinicians, leading to a high incidence of misdiagnosis and missed diagnosis due to the lack of quantitative diagnostic criteria.
Objective: To characterize auricle morphology in newborns from southern China and explore the underlying etiology of congenital auricle deformity.
Methods: A total of 636 neonates (1272 ears) with less than seven days old were included.
Clin Genet
December 2024
Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.
Broad-spectrum genetic tests often lead to the identification of variants of uncertain significance (VUS), a major issue in modern clinical genetics. A fair proportion of VUS may alter the splicing processes, but their interpretation is challenging. This study aimed at providing a classification approach for VUS potentially-affecting splicing by integrating transcript analysis from peripheral blood mRNA into routine diagnostics.
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