Macular Hole–Related Retinal Detachment in Children with Knobloch Syndrome

Alsulaiman, Sulaiman M.; Al-Abdullah, Abdulelah A.; AlAkeely, Adel; Al-Dhibi, Hassan; Engelbrecht, Leonore A.; Ghazi, Nicola G.; Mura, Marco

doi:10.1016/j.oret.2019.12.004

“…Few detachment surgeries have been published in KNO patients. Alsulaiman et al obtained retinal reattachment with different surgical interventions in 5 eyes of 9 patients [ 10 ]. There are prophylactic scleral buckle surgeries in the literature, and they have been reported to be effective [ 11 ].…”

Section: Discussionmentioning

confidence: 99%

Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature

Ogreden,

Erdoğan

2024

BMC Ophthalmol

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Background Knobloch syndrome (KNO, OMIM # 267,750) is a rare ciliopathy group sydrome characterized by a collagen synthesis disorder. It represents an uncommon cause of pediatric retinal detachment. This report presents two cases with different COL18A1 gene mutations, complicated by retinal detachment. Case presentation Both cases exhibited high myopia and various degrees of occipital skull defect. The first case, a female, had bilateral congenital retinal detachment, posterior embryotoxon, and strabismus. The second case, a male, had unilateral congenital retinal detachment and neuromotor developmental delay. The first case, diagnosed in the early months of life, underwent successful retinal reattachment surgery. However, surgery was not performed on the second case, who presented with late-stage unilateral retinal detachment and pre-phthisis. Conclusions The report describes two patients with Knobloch syndrome, one of whom responded favorably to surgery for retinal detachment in both eyes. Successful anatomical results were achieved with early surgical interventions. It is essential to recognize the phenotypic and genetic heterogeneity within KNO.

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“…7 out of 9 eyes underwent operative treatments, which couldn't be performed on the rest of two because one had a retinal detachment that was restricted to the atrophic lesion and in the other case, the parent's consent was not available. Postsurgical procedures, 5 out of 9 eyes showed re-attachment of the retina, and two eyes showed redetachment (21).…”

Section: Treatmentmentioning

confidence: 97%

‘‘Genomic Insights into Knobloch Syndrome: A Meta-Analytical Perspective’’

Javed,

Mohsin,

Javed

2024

Preprint

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A rare genetic disorder caused by col18.a1 mutations, inherited mostly in autosomal recessive and rarely in autosomal dominant pattern, giving rise to ocular abnormalities and other associated disorders, the condition is referred to as Knobloch syndrome. This paper overviews the anterior and posterior ocular symptoms in Knobloch patients, thus demonstrating the major findings in Knobloch cases including the mutational analysis which discusses the proteins involved and exon number on which mutations are detected. Animal modeling done by knocking out col18.a1 has also been discussed to determine the functions of this gene which have been identified based on anomalies found in knock-out mice.

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“…7 out of 9 eyes underwent operative treatments, which couldn't be performed on the rest of two because one had a retinal detachment that was restricted to the atrophic lesion and in the other case, the parent's consent was not available. Postsurgical procedures, 5 out of 9 eyes showed re-attachment of the retina, and two eyes showed redetachment (21).…”

Section: Treatmentmentioning

confidence: 97%

‘‘Genomic Insights into Knobloch Syndrome: A Meta-Analytical Perspective’’

Javed,

Mohsin,

Javed

2024

Preprint

0

View full text Add to dashboard Cite

A rare genetic disorder caused by col18.a1 mutations, inherited mostly in autosomal recessive and rarely in autosomal dominant pattern, giving rise to ocular abnormalities and other associated disorders, the condition is referred to as Knobloch syndrome. This paper overviews the anterior and posterior ocular symptoms in Knobloch patients, thus demonstrating the major findings in Knobloch cases including the mutational analysis which discusses the proteins involved and exon number on which mutations are detected. Animal modeling done by knocking out col18.a1 has also been discussed to determine the functions of this gene which have been identified based on anomalies found in knock-out mice.

show abstract

Macular Hole–Related Retinal Detachment in Children with Knobloch Syndrome

Cited by 7 publications

References 17 publications

Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature

Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature

‘‘Genomic Insights into Knobloch Syndrome: A Meta-Analytical Perspective’’

‘‘Genomic Insights into Knobloch Syndrome: A Meta-Analytical Perspective’’

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