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The eye in the CHARGE association
I M Russell-Eggitt1, K D Blake, D S Taylor
1Department of Ophthalmology, Hospital for Sick Children, London.
Insights
CHARGE association, a condition affecting multiple systems, frequently involves ocular abnormalities, particularly coloboma. This study found a higher incidence of coloboma in CHARGE patients than previously reported, suggesting potential underdiagnosis.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- The CHARGE association is a complex genetic disorder characterized by multiple congenital anomalies.
- Ocular abnormalities are common in CHARGE syndrome, but the precise incidence of coloboma requires further clarification.
Purpose of the Study:
- To determine the incidence of ocular abnormalities, specifically coloboma, in patients diagnosed with CHARGE association.
- To compare the observed incidence of coloboma with previously reported figures.
Main Methods:
- Retrospective review of 50 patients diagnosed with CHARGE association within a single center.
- Detailed ophthalmological examination and documentation of ocular findings, including coloboma type and associated anomalies.
Main Results:
- Ocular abnormalities were present in 44 out of 50 patients (88%).
- Coloboma was identified in 43 out of 50 patients (86%), a higher incidence than previously reported (66%).
- Common coloboma types included retinochoroidal with optic nerve involvement; iris defects were less frequent.
Conclusions:
- The incidence of coloboma in CHARGE association is significantly higher than previously estimated.
- There may be an underdiagnosis of coloboma in children with multiple congenital abnormalities, highlighting the need for thorough ophthalmological screening.
Abstract:
CHARGE association includes patients with at least four features prefixed by the letters of the mnemonic: Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies and/or hearing loss. Many also have facial palsy. We report a series identified by collaboration within one centre of all specialties concerned in the management of the CHARGE association. Ocular abnormalities were found in 44 out of 50 patients with the CHARGE association. Of these, 41 had 'typical' colobomata. The majority had retinochoroidal colobomata with optic nerve involvement, but only 13 patients had an iris defect. Two patients had atypical iris colobomata with normal fundi. Additional features were microphthalmos in 21 patients, optic nerve hypoplasia in four, nystagmus in 12, and a vertical disorder of eye movement in four of the 22 cases with facial palsy. We report an incidence of coloboma in the CHARGE association of 86% (43/50) compared with a previous cumulative reported incidence of 66% (112/170). We believe that there may have been previous underdiagnosis of colobomata in children with multiple congenital abnormalities.