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Heritable unilateral clinical anophthalmia
Gregory J Griepentrog1, Mark J Lucarelli
1Department of Ophthalmology and Visual Sciences, University of Wisconsin-Madison, Madison, Wisconsin 53792, USA.
Ophthalmic Plastic and Reconstructive Surgery
|April 15, 2004
Summary
This case study presents a rare instance of heritable unilateral anophthalmos in a newborn and their mother. Early genetic evaluation and specialized socket management are crucial for managing this congenital eye anomaly.
Area of Science:
- Ophthalmology
- Clinical Genetics
- Pediatrics
Background:
- Unilateral anophthalmos, a rare congenital condition, involves the absence of an eye.
- Isolated nonsyndromic forms can be heritable, though infrequently reported.
- Genetic factors play a significant role in the development of ocular anomalies.
Observation:
- A newborn presented with right-sided clinical anophthalmos.
- The mother exhibited left-sided anophthalmos, indicating a potential hereditary link.
- This familial occurrence highlights the genetic basis of anophthalmos.
Findings:
- The case suggests a pattern of isolated, nonsyndromic, heritable unilateral anophthalmos.
- Review of literature confirms the rarity but existence of such inherited conditions.
- Genetic evaluation is paramount for understanding the etiology.
Implications:
- Early and comprehensive clinical genetics evaluation is essential for affected families.
- Management involves progressive conformer expansion for the anophthalmic socket.
- A self-inflating polymer expander is planned for definitive socket management.