Three cases of molecularly confirmed Knobloch syndrome

Knobloch syndrome (OMIM 267750) is a rare autosomal recessive disorder due to genetic defects in the gene. The triad of high myopia, occipital defect, vitreoretinal degeneration has been described as pathognomonic for this condition. Patients with Knobloch syndrome have also extraocular problems as...

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Bibliographic Details
Published in:Ophthalmic genetics 2020-01, Vol.41 (1), p.83-87
Main Authors: Balikova, Irina, Sanak, Nuri Serdal, Fanny, Depasse, Smits, Guillaume, Soblet, Julie, de Baere, Elfride, Cordonnier, Monique
Format: Article
Language:English
Subjects:
Adolescent
Child, Preschool
Collagen Type XVIII - genetics
Encephalocele - genetics
Encephalocele - pathology
Female
Humans
Male
Middle Aged
Mutation
Prognosis
Retinal Degeneration - genetics
Retinal Degeneration - pathology
Retinal Detachment - congenital
Retinal Detachment - genetics
Retinal Detachment - pathology
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Summary:Knobloch syndrome (OMIM 267750) is a rare autosomal recessive disorder due to genetic defects in the gene. The triad of high myopia, occipital defect, vitreoretinal degeneration has been described as pathognomonic for this condition. Patients with Knobloch syndrome have also extraocular problems as brain and kidney malformations. High genetic and phenotypic variation has been reported in the affected patients. Here we provide detailed clinical description of 3 individuals with Knobloch syndrome. Ocular examination and fundus imaging have been performed. Detailed information about systemic conditions has been provided. Mutations in were identified in all three patients. Patient 1 had congenital hip dislocation and patient 2 had renal atrophy, cardiac insufficiency and difficult skin healing. With this report we add to the clinical and genetic knowledge of this rare condition.
ISSN:1381-6810
1744-5094
DOI:10.1080/13816810.2020.1737948