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[Double optic papilla in eye coloboma (author's transl)]
Klinische Monatsblatter Fur Augenheilkunde
|May 1, 1978
Summary
This case report details an extremely rare congenital malformation in a 4-year-old girl, featuring bilateral iris colobomas and a unique double optic disc within a single coloboma.
Area of Science:
- Ophthalmology
- Medical Genetics
- Congenital Malformations
Background:
- Congenital malformations encompass a wide range of structural or functional abnormalities present at birth.
- Ocular anomalies, such as colobomas and microphthalmia, can significantly impact vision and require specialized examination.
Observation:
- A 4-year-old female presented with multiple congenital malformations, including bilateral iris colobomas and microphthalmia.
- Ophthalmological examination revealed additional findings of leukoma in the right eye and convergent strabismus in the left eye.
Findings:
- Funduscopic examination of the left eye showed an unusual oval, salmon-colored area with retinal vessels entering its depth, lacking a vascular infundibulum.
- A papilla-like cavity, potentially a circulus zinnii (circulus vasculosus nervi optici), was observed within the coloboma.
- Crucially, two optic discs were identified, connected by a vein, representing an extremely rare malformation within a single coloboma.
Implications:
- This case highlights the importance of thorough ophthalmological evaluation in patients with congenital anomalies.
- The presence of a double optic disc within a coloboma presents a unique challenge for diagnosis and understanding of optic nerve development.
- Further research into the genetic and developmental pathways underlying such rare ocular malformations is warranted.