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Pervasive ocular anomalies in posterior microphthalmos.

Samantha Slotnick¹, David E Fitzgerald, Jerome Sherman

¹State University of New York, State College of Optometry, New York, New York 10541, USA. think202020@gmail.com

Optometry (St. Louis, Mo.)

|January 30, 2007

Summary

Posterior microphthalmos can co-occur with severe hyperopia, esotropia, and optic nerve hypoplasia. This sibling case suggests a potential hereditary component for these combined ophthalmic conditions.

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Area of Science:

Ophthalmology
Genetics
Pediatric Ophthalmology

Background:

Posterior microphthalmos is a rare condition often associated with other ophthalmic issues.
Previous reports have not detailed the coexistence of posterior microphthalmos with refractive, binocular, retinal, and neurologic conditions, nor a hereditary component.
This case report documents posterior microphthalmos in siblings with severe hyperopia, esotropia, macular folds, and optic nerve hypoplasia.

Observation:

A 9-year-old girl presented with reduced visual acuity, esotropia, macular folds, and optic nerve hypoplasia.
Her brother exhibited similar symptoms, including severe hyperopia, esotropia, and probable optic nerve hypoplasia.
Ocular imaging revealed thickened corneas, posterior microphthalmos, and retinal macular folds in both siblings.

Findings:

The siblings presented with a constellation of ophthalmic anomalies including posterior microphthalmos, severe hyperopia, esotropia, macular folds, and optic nerve hypoplasia.
Optical coherence tomography (OCT) provided detailed morphology of the macular folds, aiding in differential diagnosis.
The similar presentation in siblings strongly suggests a possible hereditary basis for this complex of conditions.

Implications:

Posterior microphthalmos can be associated with a wider range of ocular and neurological abnormalities than previously recognized.
The findings highlight the importance of considering genetic factors in cases of complex ophthalmic anomalies.
Further research is warranted to explore the genetic underpinnings and long-term implications of this condition.