Characteristics, associations, and outcomes of children with posterior segment coloboma.

Purpose: To describe the clinical characteristics and outcomes of children with posterior segment coloboma (PSC).

Methods: The medical records of children (age <18 years) with PSC examined at Boston Children's Hospital from May 1997 to May 2023 were reviewed retrospectively. The following data were collected: demographics, ocular and systemic conditions, coloboma type according to the Ida Mann (IM) classification, and best-corrected visual acuity. Rate of retinal detachment (RD) was calculated. A t test was used to compare visual outcomes by coloboma classification. Logistic regression was used to evaluate the association of CHARGE syndrome with coloboma classification and laterality.

Results: A total of 501 eyes of 343 patients were included. Differences in the mean best-corrected visual acuity of eyes with large PSC (IM type 1-3) and moderate-to-small PSC (IM type 4-7) were found at initial and final examination (both P < 0.001). RD rate was 5% per eye (95% CI, 3.25-7.28) and 7.3% per patient (95% CI, 4.77-10.57). After adjusting for covariates, children with CHARGE syndrome were at increased odds of having IM type 1, type 2, or type 3 colobomas (OR = 2.5; 95% CI, 1.4-4.8; P = 0.003) and bilateral fundus colobomas (OR = 7.0; 95% CI, 3.4-14.5; P <0.001), regardless of IM type, compared to children with PSC and no CHARGE association.

Conclusions: Eyes with large IM colobomas had worse visual outcomes than those with smaller defects; however, both experienced visual impairment. Children with PSC had a low rate of RD. Children with CHARGE syndrome often presented with bilateral and large IM colobomatous defects.