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Upper and lower eyelid contour and positional changes after deep skin grafts in ablepharon macrostomia syndrome.
Orbit
January 2025
Department of Ophthalmology, Otorhinolaryngology and Head and Neck Surgery, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil.
Ablepharon macrostomia syndrome is a rare congenital disorder caused by autosomal-dominant mutations. This condition is characterized by redundant skin, low-set ears, macrostomia, ambiguous genitalia, and underdevelopment of the both upper and lower eyelids. The shortening of the anterior lamella, septum and levator aponeurosis lead to a severe corneal exposure within the first hours of life.
View Article and Find Full Text PDFmiRNA Expression Profile in Primary Limbal Epithelial Cells of Aniridia Patients.
Invest Ophthalmol Vis Sci
January 2025
Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Homburg/Saar, Germany, Saarland University, Homburg/Saar, Germany.
Purpose: This study evaluates the microRNA (miRNA) expression profile in primary limbal epithelial cells (pLECs) of patients with aniridia.
Methods: Primary human LECs were sampled and isolated from 10 patients with aniridia and 10 healthy donors. The miRNA profile was analyzed using miRNA microarrays.
Biochemical and structural characterization of Rab3GAP reveals insights into Rab18 nucleotide exchange activity.
Nat Commun
January 2025
Life Sciences Institute, Department of Biochemistry and Molecular Biology, The University of British Columbia, Vancouver, BC, V6T 1Z3, Canada.
The heterodimeric Rab3GAP complex is a guanine nucleotide exchange factor (GEF) for the Rab18 GTPase that regulates lipid droplet metabolism, ER-to-Golgi trafficking, secretion, and autophagy. Why both subunits of Rab3GAP are required for Rab18 GEF activity and the molecular basis of how Rab3GAP engages and activates its cognate substrate are unknown. Here we show that human Rab3GAP is conformationally flexible and potentially autoinhibited by the C-terminal domain of its Rab3GAP2 subunit.
View Article and Find Full Text PDFNovel Intragenic and Genomic Variants Highlight the Phenotypic Variability in -Related Disease.
Genes (Basel)
December 2024
Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA.
: Disruption of results in microphthalmia with linear skin lesions (MLS) characterized by microphthalmia/anophthalmia, corneal opacity, aplastic skin lesions, variable central nervous system and cardiac anomalies, intellectual disability, and poor growth in heterozygous females. Structural variants consisting of chromosomal rearrangements or deletions are the most common variant type, but a small number of intragenic variants have been reported. : Exome sequencing identified variants affecting .
View Article and Find Full Text PDFLong-term outcomes of scleral fixated black diaphragm intraocular lens in eyes with combined aphakia and aniridia.
Eur J Ophthalmol
January 2025
Dept of Vitreoretinal Diseases, Sankara Nethralaya, Chennai, India.
Article Synopsis
- The study evaluated the long-term outcomes of scleral fixation of aniridic black diaphragm intraocular lenses (BDIOL) in 38 eyes affected by aniridia and aphakia due to trauma or congenital conditions.
- After an average follow-up of 28 months, there was a significant improvement in visual acuity, and patients reported reduced glare and photophobia, though some experienced complications like elevated intraocular pressure and corneal decompensation.
- The findings suggest that scleral fixation of BDIOL is an effective solution for patients lacking capsular support, providing good vision quality with a low rate of complications, regardless of prior surgical history.
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