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[Knobloch syndrome: a case report].

Q Y Liu¹, X H Cui¹, Z Li¹

¹Tianjin Medical University Eye Hospital, Eye Institute and School of Optometry, Tianjin Branch of National Clinical Research Center for Ocular Disease, Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin 300384, China.

[Zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology

|June 12, 2022

Summary

This summary is machine-generated.

Knobloch syndrome, a rare genetic disorder, was diagnosed in a child with severe vision problems and an occipital meningocele. Genetic testing confirmed pathogenic variations in the COL18A1 gene, highlighting the need for future gene therapies.

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Area of Science:

Ophthalmology
Genetics
Pediatrics

Background:

Knobloch syndrome is a rare autosomal recessive disorder.
It is characterized by high myopia, retinal detachment, and occipital encephalocele.

Observation:

A 5-year-old girl presented with poor eyesight, high myopia, esotropia, horizontal tremor, and retinopathy.
She had a history of an occipital cystic mass with skull plate defect and meningocele that resolved spontaneously.

Findings:

Clinical presentation suggested Knobloch syndrome.
Genetic analysis revealed compound heterozygous pathogenic variations in the COL18A1 gene, confirming the diagnosis.
The identified variations were in the V4 region via whole exome sequencing.

Implications:

This case confirms COL18A1 gene variations as causative for Knobloch syndrome.
Current treatment options are limited, emphasizing the potential of future gene therapy.
Early diagnosis and genetic counseling are crucial for affected families.