Cornea 2021 Apr 14. Epub 2021 Apr 14.
The Centre of Excellence for Rare Eye Diseases, L V Prasad Eye Institute, Hyderabad, India; The Cornea Institute, L V Prasad Eye Institute, Hyderabad, India; Jasti V Ramanamma Children's Eye Care Center, L V Prasad Eye Institute, Hyderabad, India; Kallam Anji Reddy Molecular Genetics Laboratory, Brien Holden Eye Research Centre, L V Prasad Eye Institute, Banjara Hills, Hyderabad, India; Ophthalmic Pathology Services, L V Prasad Eye Institute, Hyderabad, India; University of Illinois Eye and Ear Infirmary, Chicago, IL; and Department of Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
Purpose: The purpose of this study was to report the clinicopathological features of Peters anomaly in a child with nail-patella syndrome.
Methods: Nail-patella syndrome (NPS) is a rare autosomal dominant connective tissue disorder characterized by several anomalies of the extremities, joints and nails, glomerulopathy, and rarely ocular involvement. NPS is caused by heterozygous loss-of-functional mutations in the LMX1B gene that encodes the LIM homeodomain proteins. Read More