Postlenticular membrane associated with Smith-Lemli-Opitz syndrome.

Area of Science:

• Ophthalmology
• Genetics
• Pediatrics

Background:

• Smith-Lemli-Opitz syndrome (SLOS) is a rare autosomal recessive disorder caused by mutations in the 7-dehydrocholesterol reductase (DHCR7) gene.
• SLOS is associated with a spectrum of congenital anomalies, including developmental delay, distinctive facial features, and limb malformations.
• Ocular manifestations in SLOS are known but typically include ptosis and strabismus, with cataracts being less commonly reported.

Observation:

• A 6-day-old male infant diagnosed with Smith-Lemli-Opitz syndrome presented with bilateral cataracts.
• Additionally, the infant exhibited posterior synechiae and a dense postlenticular membrane.
• No other ocular inflammatory signs were evident that could explain these specific findings.

Findings:

• This case represents the first documented instance of a dense postlenticular membrane associated with Smith-Lemli-Opitz syndrome.
• The absence of inflammation suggests a direct link between the genetic disorder and the observed membrane formation.
• Bilateral cataracts were a significant ocular finding in this infant with SLOS.

Implications:

• This finding expands the known spectrum of ocular manifestations in Smith-Lemli-Opitz syndrome.
• Further research may elucidate the specific pathogenic mechanisms linking SLOS to postlenticular membrane development.
• This case highlights the importance of comprehensive ophthalmological evaluation in infants diagnosed with SLOS.