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Ocular findings in acromesomelic dysplasia
W N Clarke1, S Munro, S Brownstein
1Department of Ophthalmology, Children's Hospital of Eastern Ontario, Ottawa, Canada.
American Journal of Ophthalmology
|December 15, 1994
Summary
This study reports on an infant with prenatal skeletal dysplasia, presenting corneal abnormalities similar to acromesomelic dysplasia. Lamellar keratoplasty was successful, indicating a potential treatment for this rare condition.
Area of Science:
- Ophthalmology
- Genetics
- Developmental Biology
Background:
- Skeletal dysplasias are a group of genetic disorders affecting bone and cartilage development.
- Acromesomelic dysplasia is a rare form characterized by disproportionately short limbs.
- Prenatal diagnosis of skeletal dysplasia can be challenging, especially when associated with ocular manifestations.
Observation:
- An infant presented with prenatal onset of skeletal dysplasia with features overlapping acromesomelic dysplasia.
- Ocular examination revealed abnormalities in both corneas, consistent with the underlying skeletal condition.
- Histologic examination of a corneal button from the right eye demonstrated a partial-thickness scar.
Findings:
- The infant's condition shared clinical and microscopic corneal findings with acromesomelic dysplasia.
- Successful lamellar keratoplasty was performed on the infant's left eye.
- The corneal scar in the right eye was confirmed to be partial-thickness.
Implications:
- This case highlights the importance of thorough ocular examination in infants with skeletal dysplasia.
- Lamellar keratoplasty may be a viable surgical option for managing corneal complications in such cases.
- Further research is needed to understand the specific genetic and molecular mechanisms linking skeletal dysplasia and corneal abnormalities.