Restoration of vision in Kniest dysplasia patient characterized by retinal detachment with dialysis of the ora serrata: A case report.
Journal
Medicine
ISSN: 1536-5964
Titre abrégé: Medicine (Baltimore)
Pays: United States
ID NLM: 2985248R
Informations de publication
Date de publication:
24 Nov 2023
24 Nov 2023
Historique:
medline:
29
11
2023
pubmed:
28
11
2023
entrez:
28
11
2023
Statut:
ppublish
Résumé
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. 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. 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.
Identifiants
pubmed: 38013291
doi: 10.1097/MD.0000000000036090
pii: 00005792-202311240-00035
pmc: PMC10681563
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e36090Informations de copyright
Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.
Déclaration de conflit d'intérêts
The authors have no funding and conflict of interest to disclose.
Références
Meier P. Pediatric retinal detachment. Klin Monbl Augenheilkd. 2019;236:74–87.
Weinberg DV, Lyon AT, Greenwald MJ, et al. Rhegmatogenous retinal detachments in children: risk factors and surgical outcomes. Ophthalmology. 2003;110:1708–13.
Li L, Dong FT, Ye JJ. Clinical features and surgical outcomes of children with rhegmatogenous retinal detachments. Zhonghua Yan Ke Za Zhi. 2008;44:20–4.
Chen C, Huang S, Sun L, et al. Analysis of etiologic factors in pediatric rhegmatogenous retinal detachment with genetic testing. Am J Ophthalmol. 2020;218:330–6.
Eibenberger K, Sacu S, Rezar-Dreindl S, et al. Clinical characteristics and surgical outcome of pediatric and early adulthood retinal detachment. Eur J Ophthalmol. 2021;31:1367–74.
Meier P. Paediatric retinal detachment and hereditary vitreoretinal disorders. Klin Monbl Augenheilkd. 2013;230:914–9.
Barat-Houari M, Sarrabay G, Gatinois V, et al. Mutation update for COL2A1 gene variants associated with type II collagenopathies. Hum Mutat. 2016;37:7–15.
Zhang B, Zhang Y, Wu N, et al. Integrated analysis of COL2A1 variant data and classification of type II collagenopathies. Clin Genet. 2020;97:383–95.
Sergouniotis PI, Fincham GS, McNinch AM, et al. Ophthalmic and molecular genetic findings in Kniest dysplasia. Eye (Lond). 2015;29:475–82.
Al-Hashmi N, Imtiaz F, Ramzan K, et al. Novel splice (IVS18 + 1G>C) mutation in COL2A1 causing Kniest dysplasia. Clin Dysmorphol. 2013;22:39–41.
Yokoyama T, Nakatani S, Murakami A. A case of Kniest dysplasia with retinal detachment and the mutation analysis. Am J Ophthalmol. 2003;136:1186–8.
Snead MP, McNinch AM, Poulson AV, et al. Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist. Eye (Lond). 2011;25:1389–400.
Antunes RB, Alonso N, Paula RG. Importance of early diagnosis of Stickler syndrome in newborns. J Plast Reconstr Aesthet Surg. 2012;65:1029–34.
Karempelis P, Hagen M, Morrell N, et al. Associated syndromes in patients with Pierre Robin Sequence. Int J Pediatr Otorhinolaryngol. 2020;131:109842.
Briosa F, Oliveira S, Sousa R, et al. Stickler syndrome: a possible presentation of Pierre Robin sequence. BMJ Case Rep. 2019;12:e228702.
Huang F, Kuo H-K, Hsieh C-H, et al. Visual complications of Stickler syndrome in paediatric patients with Robin sequence. J Craniomaxillofac Surg. 2007;35:76–80.