[The Laurence-Moon-Bardet-Biedl syndrome]

Area of Science:

• Ophthalmology
• Genetics
• Rare Diseases

Background:

• Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is a rare autosomal recessive genetic disorder.
• Classic LMBBS is characterized by retinitis pigmentosa, obesity, intellectual disability, hypogenitalism, and polydactyly.
• Retinitis pigmentosa in LMBBS typically presents as a progressive, bilateral visual impairment.

Observation:

• A patient presented with an atypical form of retinitis pigmentosa.
• The observed retinitis pigmentosa was unilateral, sectorial, and hypopigmentary.
• These ocular findings were identified as part of the broader Laurence-Moon-Bardet-Biedl syndrome.

Findings:

• This case demonstrates a rare, atypical manifestation of retinitis pigmentosa in LMBBS.
• The unilateral, sectorial, and hypopigmentary presentation expands the known spectrum of ocular findings in LMBBS.
• Highlights the importance of considering atypical presentations in diagnosing genetic syndromes.

Implications:

• Broadens the diagnostic criteria for retinitis pigmentosa within LMBBS.
• Aids in earlier and more accurate diagnosis of LMBBS, even with unusual symptoms.
• Informs genetic counseling and management strategies for patients with atypical LMBBS presentations.