A 10-mo-old female red kangaroo (Macropus rufus) presented with a unilateral congenital corneal opacity OD. Complete ophthalmic examination revealed a shallow anterior chamber and a focal area of corneal edema with multiple persistent pupillary membranes extending from the iris colarette to the corneal endothelium adjacent to the edematous area of cornea. High-resolution B-scan ultrasound of the anterior segment showed an area consistent with thinning of Descemet's membrane in the area of corneal edema. Ophthalmic examination and ultrasound findings are consistent with a diagnosis of Peters anomaly, a form of anterior segment dysgenesis. An electroretinogram performed on the affected animal did not reveal any specific abnormalities. Karyotype analyses revealed a normal diploid number (2n = 20, -XX), with an abnormal pericentric inversion in the second largest chromosomal pair. The kangaroo exhibits mild compensated vision deficits in the affected eye. The maternal and paternal adult pairing has been discontinued in an effort to prevent future offspring anomalies.
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http://dx.doi.org/10.1638/2013-0308R.1 | DOI Listing |
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 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.
View Article and Find Full Text PDFbioRxiv
October 2024
Departments of Ophthalmology, Pathology and Cell Biology, Columbia University, New York, NY 10032, USA.
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