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A Laser-induced Mouse Model of Chronic Ocular Hypertension to Characterize Visual Defects
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Multiple ocular developmental defects in four closely related alpacas.

Kelly E Knickelbein1, David J Maggs2, Christopher M Reilly3

  • 1The Veterinary Medical Teaching Hospital, University of California, Davis, CA, 95616, USA.

Veterinary Ophthalmology
|March 2, 2018
PubMed
Summary

Multiple ocular abnormalities were found in a visually impaired alpaca and its relatives, suggesting a hereditary basis for these developmental defects. This study details clinical and histopathologic findings in affected alpacas.

Keywords:
camelidcolobomadevelopmentalembryologyhereditaryocular dysgenesis

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Area of Science:

  • Veterinary ophthalmology
  • Comparative pathology
  • Animal genetics

Background:

  • Developmental ocular abnormalities can significantly impact animal health and welfare.
  • Understanding the genetic basis of these conditions is crucial for breeding programs and disease management in camelids.

Observation:

  • A 16-month-old alpaca presented with visual impairment and was diagnosed with retinal pigment epithelium (RPE) and choroidal hypoplasia, and suspected optic nerve hypoplasia.
  • Post-mortem examination revealed severe RPE and choroidal hypoplasia with retinal detachments, though optic nerves were histologically normal.
  • Three related alpacas exhibited various ocular defects including iris colobomata, choroidal dysplasia, heterochromia iridis, and cataracts.

Findings:

  • Histopathology confirmed severe RPE and choroidal hypoplasia in the initial alpaca, inconsistent with optic nerve hypoplasia.
  • Related alpacas displayed a spectrum of congenital ocular malformations, including colobomas and RPE/choroidal anomalies.
  • The observed abnormalities, ranging from hypoplasia to colobomas, indicate significant developmental disruptions in the affected alpacas.

Implications:

  • The clustering of diverse ocular abnormalities within a closely related alpaca family strongly suggests a hereditary etiology.
  • These findings highlight the importance of ophthalmic screening in camelid breeding to identify and mitigate genetic predispositions to vision impairment.
  • Further research into the specific genetic mechanisms underlying these alpaca ocular defects is warranted.