Seckel's syndrome with pseudopolycoria.

Area of Science:

• Ophthalmology
• Clinical Genetics
• Medical Imaging

Background:

• Seckel's syndrome is a rare genetic disorder characterized by primordial dwarfism and bird-headed facial features.
• Ocular manifestations in Seckel's syndrome are not well-documented, particularly in combination with specific anomalies.

Observation:

• Ultrasonography was performed on a patient with Seckel's syndrome.
• Key ocular findings included short axial globe lengths and uniocular corneal flattening.
• The presence of iris holes with pseudopolycoria was also observed.

Findings:

• This is the first reported case of Seckel's syndrome presenting with the combination of pseudopolycoria.
• Ultrasonographic measurements revealed specific ocular biometric abnormalities.

Implications:

• Highlights the importance of comprehensive ophthalmological evaluation in Seckel's syndrome.
• Suggests ultrasonography as a valuable tool for characterizing ocular findings in this rare condition.
• Contributes to understanding the spectrum of ocular anomalies associated with Seckel's syndrome.