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      Total retinal detachment and contractile movement of the disc in eyes with morning glory syndrome

      case-report

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          Abstract

          Purpose

          This study aimed to report clinical characteristics, intraoperative findings, and surgical outcomes of 2 eyes of 2 patients with retinal detachment (RD) associated with morning glory syndrome (MGS) and contractile movement of the disc.

          Observations

          Case 1 was a 3-year-old Japanese boy who presented with congenital microphthalmos in the left eye. The presence of total RD with MGS and contractile movement of the disc was confirmed by ophthalmoscopic examination. During vitrectomy, migration of perfluorocarbon liquid into the subretinal space was observed, suggesting a communication between the vitreous cavity and the subretinal space. Here, the retina was reattached briefly after the surgery; however, it detached again 2 months after surgery. Case 2 was a 3-month-old Japanese girl who was referred to our hospital for evaluation of RD and MGS in her left eye. Partial RD, MGS, and contractile movement of the disc were confirmed by ophthalmoscopic examination. The RD remained unchanged up to 18 months from the first visit, but atresia of the pupil was found 21 months after the first visit. Severe proliferative vitreoretinopathy and contractile movement of the disc were found after lensectomy. It was impossible to completely remove the membrane despite meticulous effort of peeling it off. At the 15-month follow-up, the retinal configuration improved but remained detached.

          Conclusion and importance

          Total RD with contractile movement of the disc associated with MGS is a rare condition that seems difficult to treat.

          Highlights

          • Morning glory syndrome (MGS) with the contractile movement of the disc is a rare congenital anomaly.

          • No reported of retinal detachment and contractile movement of the disc associated with MGS.

          • Vitrectomy failed to reattach the retina in 2 eyes.

          • Surgical indications shoule be carefully considered.

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          Most cited references26

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          Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.

          The PAX6 gene is involved in ocular morphogenesis and is expressed in the developing central nervous system and numerous ocular tissues during development. PAX6 mutations have been detected in various ocular anomalies, including aniridia, Peters anomaly, corneal dystrophy, congenital cataracts, and foveal hypoplasia. However, it has not been identified in patients with optic-nerve malformations. Here, we identified novel mutations in eight pedigrees with optic-nerve malformations, including coloboma, morning glory disc anomaly, optic-nerve hypoplasia/aplasia, and persistent hyperplastic primary vitreous. A functional assay demonstrated that each mutation decreased the transcriptional activation potential of PAX6 through the paired DNA-binding domain. PAX6 and PAX2 are each thought to downregulate the expression of the other. Four of the detected mutations affected PAX6-mediated transcriptional repression of the PAX2 promoter in a reporter assay. Because PAX2 gene mutations were detected in papillorenal syndrome, alternation of PAX2 function by PAX6 mutations may affect phenotypic manifestations of optic-nerve malformations.
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            Morning glory syndrome: unusual congenital optic disk anomaly.

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              Pathogenic implications of subretinal gas migration through pits and atypical colobomas of the optic nerve.

              To describe subretinal migration of gas and silicone oil in a series of patients with congenital cavitary optic disc anomalies and to further clarify the pathogenesis of the associated maculopathy.
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                Author and article information

                Contributors
                Journal
                Am J Ophthalmol Case Rep
                Am J Ophthalmol Case Rep
                American Journal of Ophthalmology Case Reports
                Elsevier
                2451-9936
                15 October 2020
                December 2020
                15 October 2020
                : 20
                : 100964
                Affiliations
                [a ]Department of Ophthalmology, Kindai University Faculty of Medicine, 377-2. Ohno-higashi, Osakasayama, Osaka, 589–8511, Japan
                [b ]Department of Ophthalmology, Yamagata University Faculty of Medicine, 2-2-2 Iida-nishi, Yamagata, 990–9585, Japan
                Author notes
                []Corresponding author. kusaka-ns@ 123456umin.net
                Article
                S2451-9936(20)30279-6 100964
                10.1016/j.ajoc.2020.100964
                7581832
                9d8d5e6f-8839-4681-a8b5-6617b38b7c2e
                © 2020 The Authors

                This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

                History
                : 12 June 2020
                : 15 September 2020
                : 4 October 2020
                Categories
                Case Report

                morning glory syndrome,morning glory disc abnormality,optic disc anomaly,contractile movement,retinal detachment,proliferative vitreoretinopathy,vitrectomy

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