Congenital primary aphakia (CPA) may present as either buphthalmos or microphthalmos, according to a study published in the Journal of American Association for Pediatric Ophthalmology and Strabismus. However, treating these patients with incisional surgery may result in phytisis due to ciliary body dysgenesis and unpredictable aqueous production.
Researchers reviewed ultrasound biomicroscopy records from 124 children treated at a single center between 2017 and 2020 in a retroscopic, observational case series. The team identified 9 children with CPA and included an additional 3 children diagnosed prospectively for a total of 12 children in the analysis. The study objective was to identify clinical presentations and treatment outcomes for children with CPA.
According to the report, 5 children had bilateral buphthalmos, 2 had buphthalmos in 1 eye and microphthalmus in the fellow eye, and 5 had bilateral sclerocornea microphthalmia complex. All participants presented with corneas that had a silvery-blue hue and fine vascularization on the corneal surface. Mean corneal thickness was 409.1 μm among participants, with thinner corneas observed in eyes with microphthalmos ( 395.8 μm) compared with eyes with buphthalmos ( 422.5 μm; P =.032). Mean intraocular pressure (IOP) in eyes with glaucoma was 24.5 mm Hg compared with 11.4 mm Hg in eyes with microphthalmos (P <.001). Similarly, axial length was longer in eyes with glaucoma (18.9 mm) compared with eyes with microphthalmos (16.03 mm; P <.001).
After an initial misdiagnosis of secondary non acquired glaucoma with disorganized anterior segment, 1 patient underwent trabeculotomy-trabeculectomy and progressed to phthisis bulbi within 8 weeks. The patient gained ambulatory vision at 20/400 following diode trans-scleral cyclophotocoagulation, glaucoma medications, and aphakic glasses. The remaining participants received similar treatment, and children with bilateral microphthalmos experienced poor visual outcomes with no significant improvements upon wearing aphakic glasses.
“In our series, we observed that children with buphthalmos had better visual outcomes than those with microphthalmos,” the study authors note. “Conservative management with topical antiglaucoma medications, limited cyclophotocoagulation if required, and aphakic glasses appear to provide the best chance of preserving visual function in the setting of CPA.”
Study limitations include a retrospective nature, small sample size, and a lack of magnetic resonance imaging data.
Kaushik S, Snehi S, Kaur S, et al. Primary aphakia: clinical recognition is the key to diagnosis. J AAPOS. Published online September 29, 2022. doi:10.1016/j.jaapos.2022.07.012