This case report describes a surgical technique using double-layer human amniotic membrane (hAM) grafting to repair a high myopic macular hole (MH)-related chronic retinal detachment (RD) with subretinal bands in a child with Knobloch syndrome. A 4-year-old boy diagnosed with Knobloch syndrome presented with macular atrophy in the right eye and chronic total RD with subretinal bands associated with a myopic MH in the left eye. The surgery involved an encircling band, pars plana vitrectomy, and subretinal band extraction through a retinotomy. The retinotomy and MH were sealed using hAM with a 5000 centistoke (cS) silicone oil (SO) tamponade. RD recurred two weeks postoperatively due to hAM contracture, leading to MH reopening. A second intervention included replacing the contracted graft with two larger hAM grafts; the first positioned under the MH and the second over the MH in a sandwich configuration, with 5000 cS SO tamponade. Eighteen months after SO removal, a flat retina, closed MH, and ambulatory vision were achieved. In conclusion, double-layer hAM grafting provides a strong seal for MH in high myopia-associated RD where conventional techniques fail.
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http://dx.doi.org/10.4274/tjo.galenos.2025.15675 | DOI Listing |
Turk J Ophthalmol
February 2025
Gazi University Faculty of Medicine, Department of Ophthalmology, Ankara, Türkiye.
This case report describes a surgical technique using double-layer human amniotic membrane (hAM) grafting to repair a high myopic macular hole (MH)-related chronic retinal detachment (RD) with subretinal bands in a child with Knobloch syndrome. A 4-year-old boy diagnosed with Knobloch syndrome presented with macular atrophy in the right eye and chronic total RD with subretinal bands associated with a myopic MH in the left eye. The surgery involved an encircling band, pars plana vitrectomy, and subretinal band extraction through a retinotomy.
View Article and Find Full Text PDFBMC Med Genomics
February 2025
Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, F-33000, France.
Fetal pleural effusions can arise in various contexts with different prognosis. They have been reported in fetuses presenting with hereditary or acquired conditions. One particularly rare genetic disorder, known as Knobloch syndrome, seems to emerge as a potential new cause of fetal pleural effusions, associated with severe outcomes.
View Article and Find Full Text PDFAm J Med Genet A
January 2025
Department of Pediatrics, University of Connecticut School of Medicine, Farmington, Connecticut, USA.
P21-activated kinase 2 (PAK2) is a serine/threonine kinase essential for a variety of cellular processes including signal transduction, cellular survival, proliferation, and migration. A recent report proposed monoallelic PAK2 variants cause Knobloch syndrome type 2 (KNO2)-a developmental disorder primarily characterized by ocular anomalies. Here, we identified a novel de novo heterozygous missense variant in PAK2, NM_002577.
View Article and Find Full Text PDFGenes (Basel)
October 2024
Research Centre for Medical Genetics, 115522 Moscow, Russia.
Background/objectives: Knobloch syndrome 1 (KS) is an autosomal recessive inherited ocular syndrome characterized by a combination of high myopia, vitreoretinal degeneration, and occipital encephalocele. KS is caused by biallelic pathogenic variants in the gene. Diagnosing KS can be challenging due to its clinical heterogeneity and the rarity of the syndrome.
View Article and Find Full Text PDFJ AAPOS
December 2024
Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates; Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, Ohio. Electronic address:
We report the case of a 7-year-old girl with Knobloch syndrome who presented with retinal detachment due to a macular hole, which was treated with vitrectomy and silicone oil tamponade. The macular hole persisted, and recurrent silicone oil emulsification required exchanges, with two subsequent vitrectomies. Finally, an amniotic membrane graft was used to seal the macular hole in an effort to avoid silicone oil dependence for retinal attachment.
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