The cases of Peters' anomaly seen over the past decade, at Hospital Ste-Justine in Montreal, are reviewed. Associated ocular anomalies were observed in 50% of cases while 60% of patients presented with associated systemic defects. It is clear, from these patients and those reported in the literature, that Peters' anomaly can be an isolated condition, or part of distinct syndromes: the Krause-Kivlin syndrome or the Peters'-plus syndrome. The authors emphasize the importance for the ophthalmologist to recognize these possibilities if proper management is to be provided.
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http://dx.doi.org/10.3109/13816819209087614 | DOI Listing |
Pan Afr Med J
January 2025
Department of Ophthalmology, Faculty of Medicine Universitas Airlangga, Dr. Soetomo General Academic Hospital, Surabaya, Indonesia.
Anterior segment dysgenesis exerts its influence on a diverse array of ocular structures, encompassing the cornea, iris, ciliary body, anterior chamber and lens. We present a 20-month-old boy with bilateral corneal opacity. The visual acuity (VA) was 6/480 in both eyes.
View Article and Find Full Text PDFGenes (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 PDFVet Rec
December 2024
Hill & Mountain Research Centre, Scotland's Rural College, Crianlarich, UK.
Background: The breeding population of the red-billed chough (Pyrrhocorax pyrrhocorax) in Scotland has fallen in recent years, with all breeding pairs now confined to the Hebridean islands of Islay and Colonsay. Demographic studies have shown that a significant factor in the population decline on Islay has been reduced survival from fledging to 1 year of age (juveniles). Understanding the significance of infectious and non-infectious diseases in chough mortality is crucial to the development of successful management strategies aimed at conserving breeding populations of choughs in Scotland and elsewhere.
View Article and Find Full Text PDFQuant Imaging Med Surg
December 2024
Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China.
Background: Anterior segment dysgenesis (ASD) encompasses a range of congenital disorders affecting the development of the eye's anterior segment, often leading to significant visual impairment and glaucoma. Although numerous studies have focused on the genetic basis of ASD, few have comprehensively compared the clinical features across ASD subtypes. This study aims to address this gap by describing and comparing the clinical characteristics and ultrasound biomicroscopy (UBM) imaging features of various ASD subtypes in a Chinese tertiary medical center.
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