[Knobloch syndrome on multimodal imaging: a case report]

Area of Science:

• Ophthalmology
• Medical Genetics

Background:

• Knobloch syndrome is a rare genetic disorder.
• It is characterized by ocular abnormalities and central nervous system malformations.

Observation:

• A 12-year-old boy presented with a six-month history of progressively worsening vision.
• Ocular examination revealed bilateral nystagmus, concentrated vitreous bodies, and fundus findings including optic disc pallor, leopard-like retinal striations, and macular atrophy.

Findings:

• Multimodal imaging and genetic testing confirmed the diagnosis of Knobloch syndrome.
• The patient exhibited characteristic pigment epithelium and choroidal atrophy.

Implications:

• This case underscores the importance of comprehensive ophthalmological evaluation in diagnosing rare genetic syndromes.
• Early diagnosis through advanced imaging and genetic analysis is crucial for potential management strategies.