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Characteristics, associations, and outcomes of children with posterior segment coloboma
Francisco Altamirano1, Sandra Hoyek2, Shravan V Savant3
1Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Insights
Children with posterior segment coloboma (PSC) experienced visual impairment, with larger defects correlating to worse outcomes. CHARGE syndrome was associated with bilateral, large colobomas, and retinal detachment rates were low.
Area of Science:
- Ophthalmology
- Genetics
- Pediatric Medicine
Background:
- Posterior segment coloboma (PSC) is a congenital condition affecting vision.
- Understanding PSC's clinical characteristics and outcomes is crucial for pediatric eye care.
- The Ida Mann (IM) classification system categorizes coloboma severity.
Purpose of the Study:
- To detail the clinical features and visual outcomes in children diagnosed with PSC.
- To investigate the relationship between coloboma size (IM classification) and visual acuity.
- To assess the incidence of retinal detachment (RD) in pediatric PSC cases.
- To explore the association between CHARGE syndrome and specific coloboma types and laterality.
Main Methods:
- Retrospective review of medical records for children (<18 years) with PSC at Boston Children's Hospital (May 1997-May 2023).
- Data collected included demographics, ocular/systemic conditions, IM coloboma type, and visual acuity.
- Statistical analyses included t-tests for visual outcomes and logistic regression for CHARGE syndrome associations.
Main Results:
- 501 eyes from 343 patients were analyzed.
- Eyes with large PSC (IM types 1-3) showed significantly worse visual acuity than those with moderate-to-small PSC (IM types 4-7) at initial and final exams (P < 0.001).
- The rate of retinal detachment (RD) was 5% per eye and 7.3% per patient.
- Children with CHARGE syndrome had higher odds of large (IM types 1-3) and bilateral colobomas (OR=7.0, P<0.001).
Conclusions:
- Large IM colobomas are linked to poorer visual outcomes in children, though visual impairment affects all PSC severities.
- Pediatric PSC cases exhibit a low risk of retinal detachment.
- CHARGE syndrome is frequently associated with bilateral and large IM colobomatous defects in affected children.
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.
