Microcornea and bilateral ectopia lentis in an infant: unusual severe ocular presentation of neonatal Marfan syndrome

Area of Science:

• Ophthalmology
• Genetics
• Pediatrics

Background:

• Marfan syndrome is a genetic disorder affecting connective tissue, often presenting with cardiovascular, skeletal, and ocular abnormalities.
• Neonatal Marfan syndrome can manifest with severe ocular complications, necessitating prompt diagnosis and management.
• Ocular manifestations are crucial indicators for the early identification of connective tissue disorders in infants.

Observation:

• A 7-week-old female infant presented with microcornea, bilateral spontaneous lens dislocation, and anomalous optic discs.
• These ocular findings were observed before a confirmed systemic diagnosis of Marfan syndrome.
• The patient's presentation underscores the potential for significant ocular abnormalities in undiagnosed neonatal Marfan syndrome.

Findings:

• The case details the co-occurrence of multiple rare ocular anomalies: microcornea, bilateral spontaneous lens dislocation, and optic disc anomalies.
• Differential diagnoses for these ocular findings in infants are explored, considering various genetic and congenital conditions.
• A review of existing literature on the ocular manifestations associated with neonatal Marfan syndrome is provided.

Implications:

• Early and thorough ocular examination is critical for diagnosing neonatal Marfan syndrome, even in the absence of clear systemic signs.
• Recognizing these specific ocular findings can aid in the timely diagnosis and management of Marfan syndrome in infants.
• This case contributes to the understanding of the spectrum of ocular presentations in neonatal Marfan syndrome, informing clinical practice and future research.