A case of unilateral retinitis pigmentosa associated with full thickness macular hole

Enani, Lama; Kozák, Igor; Abdelkader, Ehab

doi:10.4103/meajo.meajo_97_17

Cited by 4 publications

(1 citation statement)

References 11 publications

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“…PPV, ILM peeling, LHEP transplantation, autologous blood, C3F8 injection2. PPV, ILM peeling, laser, LHEP transplantation, C3F8 injection 2 improved 2 complete FTMH closure Yan et al [ 14 ] 2018 China 4 4 PPV, ILM peeling, SF6 or C3F8 or silicon injection 2 improved, 1 unchanged, 1 worsened 3 complete FTMH closure,1 remained unclosed Ratra et al [ 22 ] 2013 India 5 5 CME PPV, ILM peeling, C3F8 or silicon injection 2 improved, 1 unchanged, 2 worsened 3 complete FTMH closure,2 remained unclosed Enani et al [ 23 ] 2017 Saudi Arabia 1 1 PPV, ILM peeling, gas tamponade 1 unchanged 1 complete FTMH closure García-Fernández et al [ 24 ] 2013 Spain 1 1 SRF, PVD PPV, ILM peeling, SF6 injection 1 unchanged 1 reopened 2 years later Amemiya et al [ 25 ] 2002 Japan 1 1 PPV, ILM peeling, gas tamponade 1 improved 1 complete FTMH closure PPV pars plana vitrectomy; ILM internal limiting membrane; FTMH full-thickness macular hole; PVD posterior vitreous detachment; RD retinal detachment; CME cystoid macular edema; EZ ellipsoid zone; RPE retinal pigment epithelium; LHEP lamellar-...…”

Section: Discussionmentioning

confidence: 99%

Flap technique-assisted surgeries for advanced retinitis pigmentosa complicated with macular hole: a case report and literature review

Lee

Yang

et al. 2021

BMC Ophthalmol

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Background Full-thickness macular hole (FTMH) is a rare complication in retinitis pigmentosa (RP) patients and may increase intraoperative challenges. Furthermore, lens capsular flap transplantation and inverted internal limiting membrane (ILM) flap were reported to close complicated FTMH successfully. Here, we present a case of bilateral advanced RP complicated by a FTMH treated with a novel lens capsular flap transplantation and inverted internal limiting membrane flap. Case presentation A 46-year-old presented to our hospital with a complaint of progressively blurred vision and metamorphopsia in both eyes. Spectral-domain optical coherence tomography revealed a FTMH with retinoschisis in the right eye and another FTMH in the left eye. ILM peeling with inverted ILM flap technique was performed on the right eye and ILM peeling with anterior lens capsular flap technique was performed on the left eye. Post-operative follow-up showed successful closure of the FTMH and improved vision in both eyes. Conclusions In our present case, flap-assisted techniques for retinitis pigmentosa with macular hole result in excellent visual and anatomic outcomes.

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Section: Discussionmentioning

confidence: 99%

Flap technique-assisted surgeries for advanced retinitis pigmentosa complicated with macular hole: a case report and literature review

Lee

Yang

et al. 2021

BMC Ophthalmol

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Unilateral Macular Hole in a Patient With Retinitis Pigmentosa Treated With Cover Flap Technique With the Use of Platelet-Rich Plasma Under Air Tamponade

Lo Giudice,

Alessandria,

Imburgia

et al. 2024

RETINAL Cases &Amp; Brief Reports

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Purpose: The purpose of the study is to show the excellent anatomical result of the inverted flap-assisted technique with PRP under air for retinitis pigmentosa complicated with macular hole Methods: A 32-year-old woman, previously diagnosed with retinitis pigmentosa, was referred to our department complaining of decreased central vision in her LEFT eye for 4 weeks. At the time of presentation, the optical coherence tomography and fundoscopy examination showed the presence of a macular hole of 620 microns in diameter. The closure of the macular hole was observed after the surgical procedure, but endophthalmitis occurred 5 days postoperatively. Results: In our presented case, the cover flap-assisted technique with PRP under air for retinitis pigmentosa complicated with macular hole resulted in excellent anatomical outcomes with unremarkable visual recovery. Conclusion: The physiopathology of full-thickness macular holes in RP patients remains still not fully elucidated. Pars plana vitrectomy with the adjunct of highly concentrated P-PRP have shown successful results.

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In silico analysis ofIDH3Agene revealed Novel mutations associated with Retinitis Pigmentosa

Mahmoud¹,

Abdelmoneim²,

Murshed³

et al. 2019

Preprint

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Background: Retinitis Pigmentosa (RP) refers to a group of inherited disorders characterized by the death of photoreceptor cells leading to blindness. The aim of this study is to identify the pathogenic SNPs in the IDH3A gene and their effect on the structure and function of the protein. Method: we used different bioinformatics tools to predict the effect of each SNP on the structure and function of the protein. Result: 20 deleterious SNPs out of 178 were found to have a damaging effect on the protein structure and function. Conclusion: this is the first in silico analysis of IDH3A gene and 20 novel mutations were found using different bioinformatics tools, and they could be used as diagnostic markers for Retinitis Pigmentosa.Keywords: Retinitis Pigmentosa (RP), IDH3A, SNP, in silico analysis, diagnostic markers.RP has three patterns of inheritance; autosomal dominant (adRP), autosomal recessive (arRP) and X-linked pattern (14,(20)(21)(22) and the most reported genes for each case are RHO gene, USH2A and RPGR respectively (4, 21-24) yet the gene we are working on, Isocitrate Dehydrogease 3, (IDH3A) is a novel gene identified as the cause of typical arRP (25) located in the human chromosome 15q25.1 (26). The IDH3A function is to catalyze the oxidative decarboxylation of isocitrate (27) which is the key rate-limiting step of the tricarboxylic acid cycle. It also plays a central role in the aerobic energy production and cellular respiration thus mutations in this gene will affect the nervous system (28, 29) and may cause cancer (30,31).Although the RP is the most common inherited disease of the retina (14, 32-36) there is still no effective therapeutic strategy and the exact pathogenesis and etiology of the disease is not clear (3,5,32,37).The aim of this study is to identify the pathogenic SNPs in the IDH3A gene and their effect on the structure and function of the protein, which might help in the overall understanding of the pathogenesis of the disease and could be used as diagnostic markers. This is the first in silico analysis in the coding region of IDH3A gene to prioritize SNPs for further genetic mapping studies. Utilization of in analysis softwares expedites the process of identifying the deleterious SNPs with no cost, and also facilitates future genetic studies. (38)

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A case of unilateral retinitis pigmentosa associated with full thickness macular hole

Cited by 4 publications

References 11 publications

Flap technique-assisted surgeries for advanced retinitis pigmentosa complicated with macular hole: a case report and literature review

Flap technique-assisted surgeries for advanced retinitis pigmentosa complicated with macular hole: a case report and literature review

Unilateral Macular Hole in a Patient With Retinitis Pigmentosa Treated With Cover Flap Technique With the Use of Platelet-Rich Plasma Under Air Tamponade

In silico analysis ofIDH3Agene revealed Novel mutations associated with Retinitis Pigmentosa

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