We report a case of aniridia associated with congenital aphakia and secondary glaucoma. A 35-year-old male presented with aniridia, congenital aphakia and secondary glaucoma in both eyes. After an unsuccessful medical management, he underwent trabeculectomy with mitomycin C and anterior vitrectomy under local anesthesia in his left eye. Postoperatively, at the end of six months, intraocular pressure (IOP) in his left eye was controlled without medications. This case highlights the rare association of aniridia with congenital aphakia and secondary glaucoma.
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http://dx.doi.org/10.4103/0301-4738.53061 | 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 PDFEur J Ophthalmol
January 2025
Dept of Vitreoretinal Diseases, Sankara Nethralaya, Chennai, India.
Ophthalmic Genet
January 2025
Department of Ophthalmology, Unidade de Saúde Local de São João, Porto, Portugal.
Purpose: We present the case of a newborn with right anophthalmia, left congenital cystic eye, and two novel variants in the gene. This report provides a comprehensive discussion of the clinical presentation, management strategies, and long-term follow-up for this rare condition.
Methods: A thorough ophthalmic examination was performed.
Ophthalmology
December 2024
Department of Ophthalmology, Stanford University, Palo Alto, CA.
Objective: Achieving near normal vision following unilateral congenital cataract surgery is possible but requires early surgery, optical correction and consistent patching. Patching is often challenging for children and their caregivers. The goal of these analyses is to examine the association between reported consistency in patching during the first year after surgery and visual acuity.
View Article and Find Full Text PDFOphthalmology
November 2024
Department of Ophthalmology, Stanford University, Palo Alto, California.
Purpose: The goal of these analyses is to provide evidence that can help parents and healthcare providers determine whether or not to continue occlusion therapy once a reliable measure of optotype acuity can be obtained in children who are born with a unilateral congenital cataract.
Design: Data from the Infant Aphakia Treatment Study (IATS) are used in a cohort design.
Participants: A total of 105 children who participated in the IATS and did not have a vision-threatening adverse event.
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