National Study on Congenital Eye Defects Including Anophthalmia, Microphthalmia, Aniridia, and Anterior Segment Dysgenesis Tracking Visual and Neurological Outcomes for Better Patient Care

What this Trial Is About

Researchers are studying congenital malformations of the eye, which include developmental defects like microphthalmia, anophthalmia, aniridia, and various anterior segment abnormalities. These conditions may affect one or both eyes and often come with extra-ocular features and intellectual disabilities. The study aims to improve understanding of visual and neurological outcomes over a 10-year follow-up, identifying factors related to better or worse prognosis and improving patient care. This observational study includes children and adults with these eye malformations. The study involves detailed eye examinations such as visual acuity tests, binocular vision assessments, slit lamp and fundus exams, ultrasound measurements, and advanced imaging techniques like OCT. Neurological evaluations are also performed. Patients will be assessed up to three times depending on their age and condition. Participants will undergo various evaluations including quality of life questionnaires and monitoring of ocular and extraocular malformations. Visual and neurological functions will be tracked over multiple visits. The study collects comprehensive data to help predict disease progression and improve management. The total duration can extend up to 10 years with periodic assessments according to patient age.

National Cohort on Congenital Defects of the Eye