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      The Pathogenesis and Treatment of Complications in Nanophthalmos

      review-article
      Author(s): , , , , ,
      Publication date (Electronic):
      Journal: Journal of Ophthalmology
      Publisher: Hindawi

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          Abstract

          Microphthalmos is a type of developmental disorder ophthalmopathy, which can occur isolated or combined with other ocular malformations and can occur secondary to a systemic syndrome. Nanophthalmos is one of the clinical phenotypes of microphthalmos. Due to the special and complex structure of nanophthalmic eyes, the disorder is often associated with many complications, including high hyperopia, angle-closure glaucoma, and uveal effusion syndrome. The management of these complications is challenging, and conventional therapeutic methods are often ineffective in treating them. The purpose of this paper was to review the concept of nanophthalmos and present the latest progress in the study of the pathogenesis and treatment of its complications. As it is considerably challenging for ophthalmologists to prevent or treat these nanophthalmos complications, timely diagnosis and a suitable clinical treatment plan are vital to ensure that nanophthalmos patients are treated and managed effectively.

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          Uveal effusion syndrome.

          Mohammed Elagouz, Dinu Stanescu-Segall, Timothy L Jackson (2010)
          The terms uveal effusion, choroidal effusion, ciliochoroidal effusion, ciliochoroidal detachment, and choroidal detachment have been used interchangeably in the literature. These labels all describe an abnormal collection of fluid that expands the suprachoroidal space, producing internal elevation of the choroidal. There are various inflammatory and hydrostatic conditions that can cause uveal effusion, but in some cases no obvious cause exists. In this setting, patients are thought to have a distinct, primary abnormality of the choroid or sclera, called uveal effusion syndrome (UES). UES may be idiopathic, or associated with hypermetropia, and should be considered a diagnosis of exclusion. Histological studies show amorphous glycosaminoglycan-like material filling the interfibrillary spaces of excised scleral tissue, with disruption of collagen fibers. In some patients there may be reduced macromolecular diffusion that interferes with the normal transscleral egress of albumin out of the eye, perhaps causing choroidal fluid retention due to altered osmotic forces. An alternative, and perhaps complementary hypothesis, is that swollen sclera compresses the transscleral vessels with resulting fluid retention. Patients with UES are most typically middle-aged men who have a relapsing remitting clinical course. There is often co-existing, shifting subretinal fluid that may involve the macula. Chronic disease may lead to secondary retinal pigment epithelial (leopard spot) changes and permanently reduced visual acuity. Treatment with systemic steroids does not appear to be effective. Surgical decompression of the vortex veins as they pass through the sclera has been described, but the most common treatment is full-thickness sclerectomies to provide an exit for choroidal fluid. The largest case series suggests that this produces an anatomic improvement in approximately 83% of treated eyes after a single procedure and in about 96% after one or two procedures. Final visual acuity improves by two or more lines in 56% of the eyes, is stable in 35%, and worsens in 9%. Although extremely rare, UES is a serious condition that is difficult to treat and can lead to severe and permanent visual loss in both eyes. Copyright 2010 Elsevier Inc. All rights reserved.
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            Control of subretinal fluid: experimental and clinical studies.

            M F Marmor (1989)
            Experimental work shows that subretinal fluid is removed both by active transport across the retinal pigment epithelium (RPE) and by passive hydrostatic and oncotic forces that work most effectively when the RPE barrier has been damaged. The retina will stay attached whether or not the RPE is intact--but retinal function requires the RPE barrier and thus active transport is the primary mechanism of subretinal fluid control. RPE fluid transport is normally limited by the retina (which resists water flow from the vitreous) but can be quite powerful when a reservoir of subretinal fluid is present. Clinical serous detachments are unlikely to form solely as a result of small RPE defects or leaks, since the active and passive transport systems for removing subretinal fluid are both so strong. It is suggested that the primary pathology in most serous retinopathy is a diffuse metabolic or vascular abnormality of RPE fluid transport, and that RPE defects or leaks are necessary but only secondary components of the disease. Several hypotheses for removing subretinal fluid therapeutically are considered in terms of their physiology. The subretinal space between the photoreceptors and the retinal pigment epithelium (RPE) is the remnant of the embryonic optic vesicle. In the developed eye the subretinal space is of minimal size, but no tissue junctions form across it and it can re-open under pathological conditions of retinal detachment. In a sense, the title of this paper is misleading since normally there should be no subretinal fluid to control. However, ocular mechanisms are necessary to prevent an accumulation of fluid, and to remove it under conditions of stress or disease.
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              Nanophthalmos: A Review of the Clinical Spectrum and Genetics

              Pedro C. Carricondo, Thais Guaraná Andrade, Lev Prasov … (2018)
              Nanophthalmos is a clinical spectrum of disorders with a phenotypically small but structurally normal eye. These disorders present significant clinical challenges to ophthalmologists due to a high rate of secondary angle-closure glaucoma, spontaneous choroidal effusions, and perioperative complications with cataract and retinal surgeries. Nanophthalmos may present as a sporadic or familial disorder, with autosomal-dominant or recessive inheritance. To date, five genes (i.e., MFRP, TMEM98, PRSS56, BEST1, and CRB1) and two loci have been implicated in familial forms of nanophthalmos. Here, we review the definition of nanophthalmos, the clinical and pathogenic features of the condition, and the genetics of this disorder.
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                Author and article information

                Contributors
                Jinsong Zhao:
                ORCID: https://orcid.org/0000-0001-9077-8446
                Journal
                Journal ID (nlm-ta): J Ophthalmol
                Journal ID (iso-abbrev): J Ophthalmol
                Journal ID (publisher-id): JOPH
                Title: Journal of Ophthalmology
                Publisher: Hindawi
                ISSN (Print): 2090-004X
                ISSN (Electronic): 2090-0058
                Publication date Collection: 2020
                Publication date (Electronic): 19 July 2020
                Volume: 2020
                Electronic Location Identifier: 6578750
                Affiliations
                Department of Ophthalmology, The Second Hospital of Jilin University, Changchun City, China
                Author notes

                Academic Editor: Monica L. Acosta

                Author information
                https://orcid.org/0000-0002-6014-9670
                https://orcid.org/0000-0002-5253-5002
                https://orcid.org/0000-0002-7132-6652
                https://orcid.org/0000-0003-4249-4099
                https://orcid.org/0000-0002-6588-9803
                https://orcid.org/0000-0001-9077-8446
                Article
                DOI: 10.1155/2020/6578750
                PMC ID: 7387986
                PubMed ID: 32765903
                SO-VID: 1d9e0a5a-5456-4c5e-a01b-8dd13e1fef03
                Copyright © Copyright © 2020 Ning Yang et al.
                License:

                This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 9 March 2020
                Date revision received : 9 June 2020
                Date accepted : 1 July 2020
                Funding
                Funded by: Department of Finance of Jilin Province
                Award ID: 2019SCZT021
                Funded by: Jilin Provincial Health and Family Planning Commission
                Award ID: 3D5172173429
                Categories
                Subject: Review Article

                ScienceOpen disciplines: Ophthalmology & Optometry
                Data availability:
                ScienceOpen disciplines: Ophthalmology & Optometry

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