OCULAR FINDINGS IN A PATIENT WITH ECTODERMAL DYSPLASIA

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Abstract

Purpose:

Ectodermal dysplasia (ED) results from abnormal development of the ectodermal layer. Although coexistence of ED and retinal pathology has been described, concomitance with retinal venous tortuosity has not been reported in the literature.

Methods:

Case report.

Results:

We report the case of a 23-year-old man with ED with bilateral retinal venous tortuosity, trichomegaly, meibomian gland dysfunction, and dry eye. Although the coexistence of ED with trichomegaly and meibomian gland dysfunction has been previously reported, to the best of our knowledge, this is the first reported case of retinal venous tortuosity associated with ED.

Conclusion:

Coexistence of retinal venous tortuosity and ED may be the consequence of a genetic mutation affecting cellular signaling pathways during retinal angiogenesis.

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