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[Knobloch syndrome: a case report]
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.
Insights
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.
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.
Abstract:
A 5-year-old girl came to the Tianjin Medical University Eye Hospital in May 2021 because of her poor eyesight after birth. The physical examination showed that she had high myopia, esotropia, horizontal tremor, and high myopia retinopathy of both eyes. After inquiring about her medical history, we found that the baby's occipital cystic mass swelled after birth, and CT examination showed that the occipital skull plate defect with meningocele, but without treatment, at present, the occipital mass had subsided by itself. Considering the eye manifestations and skull changes of the child, it may be conformed to Knobloch syndrome, after the detection of V4 by full exon gene, it was found that the child had the compound heterozygous variation of pathogenic gene COL18A1, and Knobloch syndrome was definite, Knobloch syndrome is a rare autosomal recessive hereditary disease with typical features of high myopia, retinal detachment and occipital encephalocele. At present, there is no clear treatment plan, and gene therapy may be an effective treatment for Knobloch syndrome in the future.
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