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Accessory Structures of the Eye01:17

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Optical perception, or vision, is an extraordinary sense dependent on converting light signals received via the ocular organs. These organs, known as eyes, are securely positioned within the bony cavities of the skull, called orbits. The orbits serve a dual purpose: a protective shield for the ocular globes and a stable attachment point for the soft ocular tissues. The eye's external protective mechanisms include the eyelids, which are edged with lashes that act as a barrier against foreign...
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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Related Experiment Video

Updated: Apr 16, 2026

Quantification of Orofacial Phenotypes in Xenopus
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Ocular surface involvements in ectrodactyly-ectodermal dysplasia-cleft syndrome.

David P Kennedy1, John W Chandler1, James P McCulley1

  • 1Department of Ophthalmology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd., Dallas, TX 75390-9057, United States.

Contact Lens & Anterior Eye : the Journal of the British Contact Lens Association
|March 15, 2015
PubMed
Summary

Ectrodactyly-ectodermal dysplasia-cleft syndrome, linked to p63 gene mutations, can cause severe vision loss due to ocular surface issues. Early diagnosis and treatment of limbal stem cell deficiency are crucial for preserving sight.

Area of Science:

  • Ophthalmology
  • Genetics
  • Dermatology

Background:

  • Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC) is a rare genetic disorder.
Keywords:
Corneal epithelial stem cellsCorneal stromal stem cellsEctrodactyly-ectodermal dysplasia-cleft syndromeOcular surface disordersp63 mutations

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  • It is caused by mutations in the p63 gene, affecting epidermal development.
  • Ocular manifestations are significant but not always fully characterized.