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      A Case of Unilateral Retinitis Pigmentosa Associated with Full Thickness Macular Hole

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          Abstract

          A 44-year-old Saudi female presented with poor right eye vision for 3 years. Visual acuity (VA) was 20/400 in the right eye and 20/20 in the left eye. Examination and imaging showed all the typical features of retinitis pigmentosa in the right eye associated with full thickness macular hole (FTMH) and an essentially normal left eye. The case underwent pars plana vitrectomy with internal limiting membrane peeling and gas tamponade that resulted in anatomical closure of the FTMH, but VA remained the same.

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          Most cited references 8

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          Macular abnormalities in patients with retinitis pigmentosa: prevalence on OCT examination and outcomes of vitreoretinal surgery.

          To determine the prevalence of macular abnormalities detected by optical coherence tomography (OCT) in patients with retinitis pigmentosa (RP), and to report the results of pars plana vitrectomy (PPV) in five patients with RP. OCT images of the macula of 622 eyes of 323 patients with RP were evaluated. All patients had a complete clinical examination, and PPV was performed on two RP patients with a macular hole (MH), two patients with vitreomacular traction (VMT) syndrome, and one patient with cystoid macular oedema (CME). A macular lesion was detected by OCT in 46 eyes (7.4%) of 37 patients (11.5%). CME was detected in 34 eyes (5.5%) of 26 patients, an epiretinal membrane in four eyes of four patients, VMT in five eyes of four patients, and full-thickness MH in three eyes of three patients. PPV was performed on five of these eyes. The MH was closed with vision improvement after a single surgery in one eye, and was closed after repeated PPVs with a decrease of vision in another eye. In both patients with VMT, the visual acuity decreased after the surgery. The macular morphology and visual acuity did not improve postoperatively on the one patient with CME who underwent PPV. When OCT is used, macular abnormalities are present in 7.4% of patients with RP, which is lower than the prevalence reported earlier. Although vitrectomy can improve the macular morphology in some patients with RP, improvement of visual function may be limited most likely because of the long-standing retinal dysfunction. © 2010 The Authors. Journal compilation © 2010 Acta Ophthalmol.
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            Diagnostic Challenges in Retinitis Pigmentosa: Genotypic Multiplicity and Phenotypic Variability

            Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal disorders. Diagnosis can be challenging as more than 40 genes are known to cause non-syndromic RP and phenotypic expression can differ significantly resulting in variations in disease severity, age of onset, rate of progression, and clinical findings. We describe the clinical manifestations of RP, the more commonly known causative gene mutations, and the genotypic-phenotypic correlation of RP.
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              Unilateral retinitis pigmentosa and cone-rod dystrophy

              Purpose: The purpose of this paper is to report 14 new cases of unilateral retinitis pigmentosa and three new cases of cone-rod dystrophy and to compare the similarities and dissimilarities to those found in the bilateral forms of these disorders. Methods: A total of 272 cases of retinitis pigmentosa and 167 cases of cone-rod dystrophy were studied by corneal full field electroretinograms and electrooculograms. The student t-test was used to compare categories. Results: The percentage of familial and nonfamilial cases was the same for the bilateral and unilateral forms of the disease. In our series, unilateral retinitis pigmentosa makes up approximately 5% of the total population of retinitis pigmentosa, while unilateral cone-rod dystrophy makes up only about 2% of the total. In the familial forms of unilateral retinitis pigmentosa the most common inheritance pattern was autosomal dominant and all affected relatives had bilateral disease. Conclusion: Unilateral retinitis pigmentosa and cone-rod dystrophy appear to be directly related to the more common bilateral forms of these disorders. The genetic mechanisms which account for asymmetric disorders are not currently understood. It may be a different unidentified mutation at a single loci or it is possible that nonlinked mutations in multiple loci account for this unusual disorder.
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                Author and article information

                Journal
                Middle East Afr J Ophthalmol
                Middle East Afr J Ophthalmol
                MEAJO
                Middle East African Journal of Ophthalmology
                Medknow Publications & Media Pvt Ltd (India )
                0974-9233
                0975-1599
                Apr-Jun 2017
                : 24
                : 2
                : 113-115
                Affiliations
                Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia and Menoufia University, Shebeen El-Kom, Egypt
                [1 ] Moorfields Eye Hospital Centre, Abu Dhabi, United Arab Emirates
                Author notes
                Address for correspondence: Dr. Ehab Abdelkader, King Khaled Eye Specialist Hospital, Al-Oruba Street, PO Box 7191, Riyadh 11462, Kingdom of Saudi Arabia. E-mail: eabdelkader@ 123456kkesh.med.sa
                Article
                MEAJO-24-113
                10.4103/meajo.MEAJO_97_17
                5598302
                Copyright: © 2017 Middle East African Journal of Ophthalmology

                This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.

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