Purpose: To describe three anterior segment dysgenesis disorders with infantile corneal opacities, namely, congenital hereditary endothelial dystrophy (CHED), primary congenital glaucoma (PCG), and Peters anomaly (PA) in terms of clinical characteristics, histopathology, genetic association, and diagnostic imaging profiles using imaging modalities such as ultrasound biomicroscopy (UBM) and microscope-integrated intraoperative optical coherence tomography (i-OCT).
Materials and methods: Seventy-four eyes with 22 eyes of CHED, 28 eyes of PA, and 24 eyes of PCG were clinically evaluated and underwent imaging using UBM and i-OCT. Corneal buttons of 16 operated patients underwent histopathological analysis, while genetic analysis was done in 23 patients using whole-exome sequencing.
Results: Corneal diameters (CD) and UBM parameters like anterior chamber depth (ACD), iris thickness (IT), and ciliary body (CB) thickness revealed a statistically significant difference between the three categories. In PA, 9 eyes had a third rare phenotype with only a posterior corneal defect with no iris adhesions. Genetic mutations were seen in all tested patients with CHED, in 83.3% of patients with PCG, and in 80% of patients with the third type of PA. i-OCT helped in the characterization of corneal opacity, identification of posterior corneal defects, iridocorneal adhesions, and contour of Descemet's membrane.
Conclusion: Overlapping phenotypes of the above disorders cause a diagnostic dilemma and parameters like CDs, UBM ACD, IT, and CB thickness help differentiate between them. i-OCT can help in classifying the diseases in a high resolution, non-contact manner, and can better delineate corneal characteristics. The rare third type of PA phenotype may have a genetic association.
Duane syndrome is one of the most common restrictive congenital strabismus characterized by variable horizontal duction deficits with globe retraction and shoots on attempted adduction and narrowing of the palpebral aperture. It is now listed as a congenital cranial dysinnervation disorder. The disease is usually unilateral with female preponderance. Basic etiopathogenesis involves dysinnervation of the lateral rectus (LR) due to aplastic/hypoplastic abducens nucleus with a secondary aberrant supply to the LR by the medial rectus (MR) subnucleus of the oculomotor nerve. Diagnosis of the disease is usually clinical. Due to the variable presentation of the disease, surgical management is a challenge and has to be individualized to achieve alignment in the primary gaze, reduction in globe retraction, upshoots and downshoots, and correction of any abnormal head posture. Differential recessions of the lateral and MR muscles are done to correct esotropia or exotropia in the primary gaze. For globe retraction and shoots, Y-split or periosteal fixation of the LR muscles is done depending on the severity.
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