Stickler syndrome: a possible presentation of Pierre Robin sequence

Briosa, Filipa; Oliveira, Sara; Sousa, Rodrigo; Oom, Paulo

doi:10.1136/bcr-2018-228702

Cited by 3 publications

(1 citation statement)

References 2 publications

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“…Compared to isolated PRS, additional features of Kniest dysplasia include hearing loss, retinal detachment, and progressive ocular complications that may eventually lead to blindness, as exemplified in this patient's right eye. [15] Early identification of the genetic syndrome underlying PRS is crucial for prompt ophthalmologic referral to monitor for myopia, retinal detachment, and prevention of visual complications. [16] Given the long-term risks of retinal detachment, hearing loss, and osteoarthritis with Kniest dysplasia, long-term multidisciplinary follow-up and management in ophthalmology, orthopedics, and otolaryngology are warranted in conjunction with treatment of PRS features.…”

Section: Discussionmentioning

confidence: 99%

Restoration of vision in Kniest dysplasia patient characterized by retinal detachment with dialysis of the ora serrata: A case report

Zhu,

Xing,

et al. 2023

Medicine

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Introduction: Congenital eye diseases have a significant impact on children and young adults. Retinal detachment associated with Kniest dysplasia represents the most severe ocular complication, which is challenging to diagnose and treat effectively. Genetic testing has emerged as an invaluable tool for diagnosing hereditary diseases. Case presentation: A 23-year-old male presented to our Ophthalmology Clinic with retinal detachment involving dialysis of the ora serrata in his left eye. High-throughput exon sequencing enabled a definitive diagnosis of Kniest dysplasia resulting from a mutation in the COL2A1 gene. The patient subsequently underwent pars plana vitrectomy with silicone oil injection to reattach the retina. This surgical intervention successfully reattached the retina and restored vision to 20/25 in the affected eye. Conclusion: Retinal detachment represents the most serious ocular complication associated with Kniest dysplasia. To prevent permanent blindness, early diagnosis through genetic testing and regular ophthalmological examinations are imperative. Advances in genetic screening have improved the management of retinal detachment risk in Kniest dysplasia patients.

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Section: Discussionmentioning

confidence: 99%

Restoration of vision in Kniest dysplasia patient characterized by retinal detachment with dialysis of the ora serrata: A case report

Zhu,

Xing,

et al. 2023

Medicine

View full text Add to dashboard Cite

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Incidence of mandibular distraction osteogenesis in Stickler Syndrome: Variation due to COL2A1 and COL11A1

Swanson

Ba'th

Zavala

et al. 2021

International Journal of Pediatric Otorhinolaryngology

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Restoration of vision in kniest dysplasia patients characterized by retinal detachment with dialysis of the ora serrata

Zhu,

Xing,

et al. 2024

Indian Journal of Ophthalmology - Case Reports

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A 23-year-old male patient visited our Eye Institute for “retinal detachment with dialysis of the ora serrata in left eye”. Through high-throughput exon sequencing, he was correctly diagnosed with Kniest dysplasia caused by the COL2A1 gene mutation. The retina was successfully reattached, and the vision recovered to 20/25 after pars plana vitrectomy and silicone oil injection. Retinal detachment in Kniest dysplasia is the most serious ocular complication. In order to prevent blindness, early diagnosis and regular eye examination are necessary. If a retinal detachment is found, pars plana vitrectomy to reattach the retina as soon as possible is an effective treatment.

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Stickler syndrome: a possible presentation of Pierre Robin sequence

Cited by 3 publications

References 2 publications

Restoration of vision in Kniest dysplasia patient characterized by retinal detachment with dialysis of the ora serrata: A case report

Restoration of vision in Kniest dysplasia patient characterized by retinal detachment with dialysis of the ora serrata: A case report

Incidence of mandibular distraction osteogenesis in Stickler Syndrome: Variation due to COL2A1 and COL11A1

Restoration of vision in kniest dysplasia patients characterized by retinal detachment with dialysis of the ora serrata

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