Significant Visual Rehabilitation After Pupilloplasty in a Child with Acoria, Microcornea and Nystagmus : A Case Report

Technical Summary: Significant Visual Rehabilitation After Pupilloplasty in a Child with Acoria, Microcornea, and Nystagmus

Problem Statement
The paper addresses the management of acoria, an extremely rare congenital anomaly defined by the complete absence of a pupil. This condition is frequently associated with complex anterior segment abnormalities, including microcornea, iris coloboma, and glaucoma. In pediatric patients, the absence of a functional pupil obstructs the visual axis, leading to severe visual impairment and sensory-deprivation nystagmus. A critical clinical challenge is that visual improvement in children with such complex anomalies and longstanding visual deprivation is generally considered uncommon, particularly in older children where amblyopia is typically resistant to treatment. Furthermore, the lack of a pupil often prevents detailed preoperative evaluation of the crystalline lens and posterior segment, complicating surgical planning.

Methodology
This case report details the clinical course of a 10-year-old female presenting with bilateral severe visual impairment (visual acuity of 1/60 in both eyes), horizontal nystagmus, microcornea (approximate diameter of 0.6 mm), and acoria.

• Preoperative Assessment: Due to the absence of a functional pupil, a detailed evaluation of the lens and posterior segment was impossible prior to surgery. Intraocular pressure (IOP) was noted to be elevated via digital palpation.
• Surgical Intervention: The patient underwent pupilloplasty on one eye under general anesthesia. The procedure involved a small limbal incision. Intraoperatively, a small inferiorly located iris coloboma was identified. The surgical technique consisted of traction and centralization of the iris coloboma to create a functional central optical zone and open the visual axis. The wound was closed with a single suture.
• Postoperative Management: The patient was managed with topical timolol (Apimol) to control IOP in the fellow eye.

Key Results
Following the single surgical intervention, the patient demonstrated significant clinical improvements:

• Visual Acuity: Improved from 1/60 to 6/18 without optical correction.
• Nystagmus: Complete resolution of horizontal nystagmus was observed.
• Anatomical Findings: A clear and centered visual axis was achieved. Postoperative examination revealed a cup-to-disc ratio of approximately 0.4 with no gross retinal abnormalities. IOP normalized in the operated eye.
• Functional Outcome: The improvement in vision enabled the patient to attend school and resume regular educational activities.

Significance and Claims
The paper posits that this case demonstrates that pupilloplasty can serve as a primary vision-restoring procedure for children with acoria and complex anterior segment anomalies, even at an age (10 years) when amblyopia treatment is typically considered less effective.

• Etiology of Vision Loss: The dramatic improvement suggests that the primary cause of vision loss was visual deprivation rather than permanent retinal damage or optic nerve dysgenesis. The restoration of the central optical pathway resolved the sensory-deprivation nystagmus.
• Clinical Implication: The authors argue that pupilloplasty should be recognized as a therapeutic and vision-saving procedure rather than merely a cosmetic intervention. They emphasize the importance of meticulous anterior segment evaluation and surgical exploration in children with unexplained severe visual impairment to identify "hidden" pupils or colobomas that can be surgically corrected.
• Contextual Strength: The report highlights the successful execution of this complex procedure in a resource-constrained, war-affected healthcare setting (Kassala, Sudan), underscoring the potential for significant visual rehabilitation even in challenging environments.

Limitations
The authors acknowledge that the report is based on a single case with short-term follow-up. Long-term visual stability, the progression of amblyopia outcomes, and the management of glaucoma require ongoing monitoring.