Purpose: To report the characteristics of a newly recognized clinical entity in congenital aniridia that we have termed aniridic fibrosis syndrome.
Design: Interventional case series.
Methods: Retrospective chart review of 155 eyes in 80 patients with congenital aniridia was carried out to identify and characterize eyes that had anterior chamber fibrosis. Histopathologic evaluation was performed in three eyes.
Results: Seven eyes in six patients were identified to have aniridic fibrosis syndrome. All eyes had undergone previous intraocular anterior segment surgery, some eyes with multiple procedures. Seven eyes had undergone cataract surgery with posterior chamber intraocular lens; six eyes had undergone previous implantation of tube shunt devices, and four eyes had undergone previous penetrating keratoplasty. Clinically, the syndrome was characterized by a progressive retrolenticular and retrocorneal membrane that caused forward displacement of intraocular lenses. Surgical findings indicated that the fibrotic membrane also can involve the ciliary body and anterior retina. Histopathologic evidence from three eyes indicated that the extensive fibrotic tissue originated from the root of the rudimentary iris and entrapped the intraocular lens haptics. Endothelial decompensation that was subsequent to the formation of the aniridic fibrosis syndrome was seen in all eyes.
Conclusion: Aniridic fibrosis syndrome is characterized by the development of a progressive anterior chamber fibrosis. A possible mechanism that promotes the formation of this fibrotic material may be the proximity or touching of intraocular devices on immature vessels in the rudimentary iris found in aniridia. Patients with aniridia with a history of penetrating keratoplasty, intraocular lenses, and tube shunts should be monitored for aniridic fibrosis syndrome; early surgical intervention is recommended.
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http://dx.doi.org/10.1016/j.ajo.2005.07.035 | DOI Listing |
Exp Clin Endocrinol Diabetes
January 2025
Department of Molecular Medicine, University of Pavia, Pavia, Italy.
The issue of a possible association between Shwachman-Diamond Syndrome and diabetes has been debated for many years. This review updates the Italian Shwachman-Diamond registry, confirming our previous findings that suggest that these patients might be at higher risk of developing diabetes, particularly type 1. These data are of relevance in the clinical follow-up of patients in everyday life, emphasizing the need for early diagnosis and timely intervention.
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January 2025
State Key Laboratory of Phytochemistry and Plant Resources in West China, Kunming Institute of Botany, Chinese Academy of Sciences, Kunming 650201 China; University of Chinese Academy of Sciences, Beijing 100049 China. Electronic address:
Non-alcoholic fatty liver disease (NAFLD), also known as metabolic dysfunction- associated with fatty liver disease (MAFLD), is one of the most prevalent chronic liver diseases globally. NAFLD is characterized by the accumulation of liver fat unrelated to excessive alcohol consumption. Non-alcoholic steatohepatitis (NASH) is the disease progression of NAFLD and could develop into cirrhosis and hepatocellular carcinoma.
View Article and Find Full Text PDFCureus
December 2024
Department of Pediatrics, Military Hospital, Bahrain Defence Force Royal Medical Services, Riffa, BHR.
Trichohepatoenteric syndrome (THES) is a rare genetic disorder inherited in an autosomal recessive manner. THES primarily leads to neonatal enteropathy, typically manifesting as severe, persistent diarrhea, distinctive facial features such as frontal bossing and a broad flat nasal bridge, woolly and fragile hair, immunodeficiency resulting in recurrent infections, failure to thrive (FTT), and liver complications including fibrosis or cirrhosis. This multisystem disorder is linked to mutations in the tetratricopeptide repeat domain 37 (TTC37) gene, also known as superkiller complex (SKIC) protein 3, responsible for THES type 1, and the Ski2-like ribonucleic acid (RNA) helicase (SKIV2L) gene, also known as SKIC2, responsible for THES type 2.
View Article and Find Full Text PDFKidney Int Rep
January 2025
Department of General Pediatrics, University Children's Hospital Münster, Münster, Germany.
Introduction: Phenotypic heterogeneity and unpredictability of individual disease progression present enormous challenges in ultrarare renal ciliopathies. The tubular-derived glycoprotein, Dickkopf-related protein 3 (DKK3) is a promising biomarker for kidney fibrosis and prediction of kidney function decline. Here, we measured urinary DKK3 (uDKK3) levels in 195 pediatric patients with renal ciliopathy to assess its potential as a discriminative and prediction marker.
View Article and Find Full Text PDFExp Clin Transplant
December 2024
>From the Department of Anesthesia and Intensive Care, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Chanarin-Dorfman syndrome is a multisystem inherited metabolic disorder characterized by congenital ichthyosis and lipid droplet accumulation in various organs, including the liver, muscles, and skin. The accumulation of lipids in the liver can lead to cirrhosis, liver failure, and even hepatocellular carcinoma. Here, we present a 17-year-old girl who underwent a deceased donor liver transplant to treat uncompensated cirrhosis due to Chanarin-Dorfman syndrome.
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