Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Systemic abnormalities associated with iris/nerve head/choroidal/retinal coloboma

T D Williams1

  • 1School of Optometry, University of Waterloo, Ontario, Canada.

Optometry and Vision Science : Official Publication of the American Academy of Optometry
|July 1, 1996
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Physiological health of wintering glaucous-winged gulls in coastal British Columbia.

Conservation physiology·2025
Same author

Varying aerobic capacity in relation to breeding stage and reproductive success in giant petrels (Macronectes spp.).

Comparative biochemistry and physiology. Part A, Molecular & integrative physiology·2022
Same author

Female Songbirds Can Initiate the Transition from a Migratory to a Reproductive Physiology during Spring Migration.

Physiological and biochemical zoology : PBZ·2021
Same author

Review of petroleum toxicity and identifying common endpoints for future research on diluted bitumen toxicity in marine mammals.

Ecotoxicology (London, England)·2021
Same author

The Glaucous-Winged Gull (Larus glaucescens) as an Indicator of Chemical Contaminants in the Canadian Pacific Marine Environment: Evidence from Stable Isotopes.

Archives of environmental contamination and toxicology·2017
Same author

Fitness consequences of egg-size variation in the lesser snow goose.

Oecologia·2017
Same journal

Randomized comparison of lipid-containing and non-lipid-containing artificial tears on tear film dynamics over a 3-month period.

Optometry and vision science : official publication of the American Academy of Optometry·2026
Same journal

Visits to optometrists or ophthalmologists by U.S. school-aged children with autism: Estimates from the 2022-2023 National Survey of Children's Health.

Optometry and vision science : official publication of the American Academy of Optometry·2026
Same journal

Comparison of neutralization and disinfection kinetics in povidone iodine- and hydrogen peroxide-based soft contact lens care solutions.

Optometry and vision science : official publication of the American Academy of Optometry·2026
Same journal

Agreement between ganglion cell-inner plexiform layer metrics from widefield optical coherence tomography and Goldmann II, III, and V in glaucoma.

Optometry and vision science : official publication of the American Academy of Optometry·2026
Same journal

Repeatability of SpotChecks contrast sensitivity test in macular disease.

Optometry and vision science : official publication of the American Academy of Optometry·2026
Same journal

Reflections on emerging therapies for inherited retinal diseases following a community education event: A qualitative exploration.

Optometry and vision science : official publication of the American Academy of Optometry·2026
See all related articles

This case report details a young female with bilateral large retinal and choroidal colobomas, a pituitary tumor, and mental retardation, highlighting a rare genetic association.

Area of Science:

  • Ophthalmology
  • Genetics
  • Neurology

Background:

  • Retinal and choroidal colobomas are congenital malformations resulting from incomplete closure of the embryonic ocular fissure.
  • These defects can range from mild to severe and may be associated with other ocular and systemic abnormalities.

Observation:

  • A young female presented with bilateral large colobomas affecting the retina and choroid.
  • The patient also exhibited a pituitary tumor and cognitive impairment (mental retardation).

Findings:

  • Detailed visual field data were collected and correlated with the observed retinal structural abnormalities.
  • The embryological basis for coloboma formation was reviewed in the context of this case.

Implications:

Related Experiment Videos

  • This case underscores the importance of a multidisciplinary approach in diagnosing and managing patients with complex ocular and neurological conditions.
  • Understanding the association between colobomas, pituitary tumors, and developmental delays can aid in genetic counseling and future research.
  • The presented table of systemic abnormalities associated with colobomas serves as a valuable resource for clinicians.