Congenital iris cysts are a rare condition in infants that can lead to multiple complications. This report describes an infant born with an iris cyst who developed complications including secondary glaucoma, cataracts, and visual impairment, requiring management with multiple surgical interventions and medications.
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http://dx.doi.org/10.1097/01.JAA.0000754152.43653.9f | DOI Listing |
Ophthalmologie
January 2025
Department of Ophthalmology, Faculty of Medicine, University Hospital of Cologne, 50937, Cologne, Deutschland.
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 PDFDigit J Ophthalmol
December 2024
Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio.
An 18-year-old woman with a congenital iris stromal cyst was referred for sudden-onset increased intraocular pressure (IOP) that did not respond to medical therapy. Ultrasound biomicroscopy demonstrated synechial angle closure from 9:00 to 12:00 in addition to a large cyst occupying much of the inferior angle. After implantation of an Ahmed glaucoma valve, her visual acuity returned to baseline, and IOP normalized.
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 PDFJ Med Case Rep
December 2024
Shaanxi Eye Hospital, Xi'an People's Hospital (Xi'an Fourth Hospital), Affiliated People's Hospital, Northwest University, Xi'an, 710004, Shaanxi, China.
Background: Oculocutaneous albinism is a rare autosomal recessive disorder caused by congenital melanin deficiency, resulting in hypopigmentation of the eyes, hair, and skin. This study included a Chinese family with an oculocutaneous albinism pedigree, in which the proband presented with oculocutaneous albinismcombined with secondary angle closure, which has been rarely reported in previous literature. This article primarily focused on the clinical and genetic examination results of this patient and provided recommendations for ophthalmologist to treat patients with oculocutaneous albinism in clinical practice.
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