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Pathologic features of the eye in trisomy 9.
Journal of Pediatric Ophthalmology and Strabismus
|July 1, 1982
Summary
Mosaic trisomy 9 can cause unique eye abnormalities, including keratolenticular adhesion and iris hypoplasia. These findings suggest early developmental issues during gestation in affected neonates.
Area of Science:
- Genetics
- Developmental Biology
- Ophthalmology
Background:
- Mosaic trisomy 9 is a rare chromosomal disorder.
- Ocular manifestations in trisomy 9 mosaicism are not well-documented.
- This study presents a detailed clinical and pathologic analysis of a neonate with this condition.
Observation:
- The neonate presented with deeply-set eyes, small palpebral fissures, and slight telecanthus.
- Striking ocular pathology included anterior segment alterations: keratolenticular adhesion and marked iris hypoplasia.
- Extraocular anomalies were also noted, consistent with mesodermal dysgenesis.
Findings:
- The observed ocular findings, particularly keratolenticular adhesion and iris hypoplasia, are novel in mosaic trisomy 9.
- These ocular anomalies share similarities with Peters' anomaly and syndromes like Lowe's and Potter's.
- The findings suggest a critical period of mesodermal dysgenesis between 1 and 5.5 months of gestation.
Implications:
- This case expands the known spectrum of ocular abnormalities associated with mosaic trisomy 9.
- Understanding the timing of dysgenesis provides insights into the pathogenesis of complex congenital anomalies.
- Further research is needed to elucidate the genetic and developmental mechanisms underlying these ocular findings.