Management of Full-Thickness Macular Hole in A Genetically Confirmed Case with Usher Syndrome
Autor: | Atta Ur Rehman, Konstantinos Nikopoulos, Mathieu Quinodoz, Theodoros Giannopoulos, Evangelia S Panagiotou, Anastasios G. P. Konstas, Thomas Papathomas, Carlo Rivolta, Stavrenia Koukoula |
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Jazyk: | angličtina |
Rok vydání: | 2020 |
Předmět: |
Pars plana
medicine.medical_specialty Visual acuity genetic structures medicine.medical_treatment Usher syndrome Case Report Vitrectomy 01 natural sciences 03 medical and health sciences 0302 clinical medicine Blurred vision Ophthalmology Retinitis pigmentosa medicine Full-thickness macular hole 0101 mathematics Macular hole business.industry 010102 general mathematics Pars plana vitrectomy RE1-994 medicine.disease eye diseases medicine.anatomical_structure 030221 ophthalmology & optometry medicine.symptom business |
Zdroj: | Ophthalmology and Therapy, Vol 9, Iss 3, Pp 677-684 (2020) Ophthalmology and Therapy |
ISSN: | 2193-6528 2193-8245 |
Popis: | Introduction Full-thickness macular hole (FTMH) formation is rarely seen in patients with retinitis pigmentosa (RP) and can have an adverse impact on their residual visual function. The underlying mechanisms are unknown, and clinical experience is limited regarding surgical outcomes. Here, we describe the surgical management of FTMH in a young patient with genetically confirmed Usher syndrome, the most common form of syndromic RP. Case Report A 28-year-old woman presented with blurred vision in her right eye (RE). She had a history of RP and bilateral hearing impairment since childhood. Fundoscopy and spectral-domain optical coherence tomography revealed a FTMH in the RE along with typical RP features bilaterally. After pars plana vitrectomy (PPV) with internal limiting membrane peel and gas tamponade, the FTMH closed. Six months after PPV the patient underwent cataract surgery in the affected eye, and the visual acuity remained stable compared to baseline. The clinical diagnosis of Usher syndrome was genetically confirmed by whole exome sequencing (WES), which revealed the presence of two pathogenic nucleotide variants in trans (compound heterozygosity) in the gene USH2A. Conclusion We report a rare case of successful closure of a FTMH in a patient with Usher syndrome. Surgical treatment of FTMH can help preserve the central vision in RP patients, whose peripheral vision is severely affected. |
Databáze: | OpenAIRE |
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