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Aborted choroidal coloboma: fundus imaging and optical coherence tomography
Brijesh Takkar1, Pradeep Venkatesh1, Sudarshan Khokhar1
1Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
BMJ Case Reports
|August 9, 2017
Summary
Choroidal coloboma, a condition of poor embryonic development, can present atypically. This case suggests aberrant fetal cleft fusion may lead to aborted choroidal coloboma, even with retinal pigment epithelium present.
Area of Science:
- Ophthalmology
- Developmental Biology
- Genetics
Background:
- Choroidal coloboma results from incomplete embryonic closure of the fetal choroidal fissure.
- It is associated with various degrees of visual impairment due to malformed chorioretinal structures.
- Understanding the spectrum of choroidal coloboma is crucial for diagnosis and management.
Observation:
- A unique case of choroidal coloboma is presented.
- The affected eye exhibited present retinal pigment epithelium, confirmed clinically and via imaging.
- However, other associated chorioretinal structures were underdeveloped.
Findings:
- This presentation indicates a potential variant of choroidal coloboma.
- The presence of retinal pigment epithelium suggests a specific developmental pathway.
- The poor formation of other structures points to an interrupted or aberrant closure process.
Implications:
- This case expands the known phenotypic spectrum of choroidal coloboma.
- It suggests that aberrant fusion of the fetal cleft can result in an 'aborted' form of the condition.
- Further research into the genetic and developmental mechanisms underlying such presentations is warranted.
