Unilateral cryptophthalmia.

Area of Science:

• Ophthalmology
• Medical Genetics
• Developmental Biology

Background:

• Cryptophthalmia is a rare congenital anomaly characterized by the absence of an eyelid.
• Unilateral cryptophthalmia, affecting one eye, is exceptionally rare and poorly understood.
• This study examines two distinct cases to elucidate the spectrum of this condition.

Observation:

• A 5-month-old boy presented with isolated unilateral cryptophthalmia, featuring a malformed orbit and ocular structures without identifiable intraocular tissue, optic nerve, or extraocular muscles.
• A 13-year-old girl exhibited unilateral cryptophthalmia alongside significant systemic abnormalities, including microcephaly, severe intellectual disability, facial clefting, and limb contractures.
• Advanced imaging techniques like B-scan ultrasound and computed tomography confirmed the absence of normal ocular structures in both patients.

Findings:

• Both patients displayed severe ocular and orbital malformations consistent with unilateral cryptophthalmia.
• The case of the young boy highlights isolated ocular-vestigial findings.
• The young girl's presentation underscores the potential for cryptophthalmia to be part of a broader genetic syndrome with multisystem involvement.

Implications:

• These cases expand the understanding of the clinical variability of unilateral cryptophthalmia.
• Further research into the genetic and developmental pathways underlying cryptophthalmia is warranted.
• Recognizing associated systemic abnormalities is crucial for comprehensive patient management and genetic counseling.