Ocular Manifestations in Patients Affected by p63-Associated Disorders: Ectrodactyly-Ectodermal Dysplasia-Clefting...

Area of Science:

• Genetics and rare diseases
• Ophthalmology
• Developmental biology

Background:

• Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) and Ankyloblepharon-ectodermal defect-cleft lip/palate (AEC) syndromes are rare autosomal dominant disorders.
• These syndromes result from heterozygous mutations in the p63 gene.
• Affected individuals exhibit ectodermal abnormalities, limb defects, orofacial clefting, and significant ocular surface alterations.

Purpose of the Study:

• To describe the ocular disease progression in patients with EEC and AEC syndromes.
• To analyze the long-term outcomes of ocular surface alterations in these rare genetic conditions.
• To evaluate the effectiveness of current management strategies for ocular manifestations.

Main Methods:

• Longitudinal clinical examinations and monitoring of ocular parameters from 2009 to 2023.
• Assessment of limbal stem cell deficiency.
• Quantitative data collection and comparison with existing literature.

Main Results:

• Therapies provided were crucial for symptom management but did not prevent disease progression.
• Ocular surface alterations represent a significant challenge in the long-term care of EEC and AEC patients.
• The study highlights the progressive nature of corneal clouding and potential vision loss.

Conclusions:

• Constant patient monitoring is essential to prevent acute symptom exacerbations.
• Slowing disease progression could facilitate the development of novel therapeutic strategies targeting the genetic defect.
• Further research into advanced therapies is warranted for these debilitating syndromes.