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The Pan African Medical Journal 2019Best's disease is an inherited macular dystrophy with autosomal dominant inheritance pattern, characterized by the presence of autofluorescent vitelliform deposition...
Best's disease is an inherited macular dystrophy with autosomal dominant inheritance pattern, characterized by the presence of autofluorescent vitelliform deposition whose development is stereotyped from its manifestation to the fragmentation of the material and then to its resorption. Age at onset is between 7 and 12 years. Except in the presence of complications, patients are more often asymptomatic and the disease is discovered fortuitously. We report the case of 8 year-old only daughter with no particular past medical history. Ophthalmologic examination showed corrected visual acuity 7/10 in the left and right eyes, the examination of the anterior segment was normal, fundus examination showed macular yellowish-white stain (A, B). On fluorescein angiography, hyperfluorescence occurred early followed by a hypofluorescence. Macular imaging by optical coherence tomography (OCT) showed the presence of an empty optical space between the neuroretina and the pigment epithelium (C, D). Assessment was performed: electrooculogram was perturbed using Arden ratio of 146% in the right eye and 179% in the left eye. Electroretinogram, visual fields and color vision test were normal. Fundus examination of parents was normal. The diagnosis of previtelliform BEST's disease was made based on early hypofluorescence, OCT appearance and alteration of the electroretinogram. Differential diagnoses included: stargardt's disease, progressive dystrophy of the cones and X-linked retinoschisis. No treatment was proposed, only simple monitoring.
PubMed: 31762926
DOI: 10.11604/pamj.2019.34.61.19771 -
Tzu Chi Medical Journal 2022Hereditary retinal dystrophies (HRDs), such as retinitis pigmentosa, Leber's congenital amaurosis (LCA), Usher syndrome, and retinoschisis, are a group of genetic... (Review)
Review
Hereditary retinal dystrophies (HRDs), such as retinitis pigmentosa, Leber's congenital amaurosis (LCA), Usher syndrome, and retinoschisis, are a group of genetic retinal disorders exhibiting both genetic and phenotypic heterogeneity. Symptoms include progressive retinal degeneration and constricted visual field. Some patients will be legal or completely blind. Advanced sequencing technologies improve the genetic diagnosis of HRD and lead to a new era of research into gene-targeted therapies. Following the first Food and Drug Administration approval of gene augmentation therapy for LCA caused by mutations, multiple clinical trials are currently underway applying different techniques. In this review, we provide an overview of gene therapy for HRD and emphasize four distinct approaches to gene-targeted therapy that have the potential to slow or even reverse retinal degeneration: (1) viral vector-based and nonviral gene delivery, (2) RNA-based antisense oligonucleotide, (3) genome editing by the Clustered Regularly Interspaced Short Palindromic Repeat/cas9 system, and (4) optogenetics gene therapy.
PubMed: 36578644
DOI: 10.4103/tcmj.tcmj_78_22 -
Clinical & Experimental Optometry Sep 2020Retinoschisis can be found in the fovea or the retinal periphery, either of which may be present in isolation, or in conjunction with each other. Foveal schisis may be... (Review)
Review
Retinoschisis can be found in the fovea or the retinal periphery, either of which may be present in isolation, or in conjunction with each other. Foveal schisis may be congenital, acquired, or secondary to an associated ocular pathology such as optic pit, glaucoma, or pathological myopia. The visual acuity is dependent on the cause of the schisis and appropriate treatment is variable based on likelihood for progression and visual impact. There are many useful considerations and tools for evaluation and monitoring that can be used to determine the aetiology and prognosis of these retinal findings. Retinoschisis is a diagnosis of exclusion, and pathology must be ruled out to accurately make the diagnosis. A review of two cases and following discussion summarises the various types, manifestations, presentations, and complications of retinoschisis and their evaluation, management, and appropriate monitoring or treatment. These cases lead a dialogue on the presentation and aetiology of retinoschisis, important considerations for differential diagnoses, and appropriate management.
Topics: Fovea Centralis; Humans; Retinoschisis; Tomography, Optical Coherence; Visual Acuity
PubMed: 31663163
DOI: 10.1111/cxo.12977 -
Survey of Ophthalmology 2024Intraretinal or subretinal fluid in the peripapillary area can be clinically visualized in conditions such as peripapillary choroidal neovascularization, optic disc pit... (Review)
Review
Intraretinal or subretinal fluid in the peripapillary area can be clinically visualized in conditions such as peripapillary choroidal neovascularization, optic disc pit maculopathy, and optic nerve head tumors and granulomas. Optical coherence tomography (OCT) helps to visualize peripapillary fluid in many other chorioretinal conditions such as peripapillary pachychoroid syndrome, posterior uveitis, central retinal vein occlusion, malignant hypertension, hypotonic maculopathy as well as neuro-ophthalmological conditions such as glaucoma, microcystic macular edema and disc edema due papilledema, non-arteritic anterior ischemic optic neuropathy, neuroretinitis, and diabetic papillopathy. Often, the differential diagnosis of peripapillary fluid is a bit tricky and may lead to misdiagnosis and improper management. We describe a diagnostic algorithm for peripapillary fluid on OCT and outline the salient features and management of these conditions.
Topics: Humans; Tomography, Optical Coherence; Optic Disk; Subretinal Fluid; Diagnosis, Differential; Retinal Diseases
PubMed: 38016521
DOI: 10.1016/j.survophthal.2023.11.004 -
Survey of Ophthalmology 2022Myopic traction maculopathy (MTM), one of the complications of pathologic myopia, is a spectrum of pathological conditions that are attributed to tractional changes in... (Review)
Review
Myopic traction maculopathy (MTM), one of the complications of pathologic myopia, is a spectrum of pathological conditions that are attributed to tractional changes in the eye characterized by retinoschisis, lamellar or full thickness macular hole, and foveal retinal detachment. Considering the global public health burden of MTM and pathologic myopia, it is important to understand these sight-threatening complications and their associations. We conducted an evidence-based review of the prevalence and natural history of MTM and associated risk factors. The prevalence of MTM in the general population is low, but is increased among high myopes. MTM is associated with preretinal tractional structures, myopic refractive error and axial elongation, posterior staphyloma, dome-shaped macula, chorioretinal atrophy, and myopic macular degeneration. The clinical course of MTM tends to be stable; however, MTM may progress, resulting in visual acuity deterioration, although spontaneous improvement also occurs. The associations of MTM progression include vitreous traction, location, and extent of MTM, and lamellar macular hole-specific factors. More high-quality population-based studies that assess MTM prevalence and natural history are needed.
Topics: Humans; Macular Degeneration; Myopia, Degenerative; Retinal Diseases; Retinal Perforations; Retrospective Studies; Tomography, Optical Coherence; Traction
PubMed: 35367479
DOI: 10.1016/j.survophthal.2022.03.007 -
Journal of Clinical Medicine Feb 2023Macular dystrophies are a heterogeneous group of genetic disorders that often severely threatens the bilateral central vision of the affected patient. While advances in... (Review)
Review
Macular dystrophies are a heterogeneous group of genetic disorders that often severely threatens the bilateral central vision of the affected patient. While advances in molecular genetics have been instrumental in the understanding and diagnosis of these disorders, there remains significant phenotypical variation among patients within any particular subset of macular dystrophies. Electrophysiological testing remains a vital tool not only to characterize vision loss for differential diagnosis but also to understand the pathophysiology of these disorders and to monitor the treatment effect, potentially leading to therapeutic advances. This review summarizes the application of electrophysiological testing in macular dystrophies, including Stargardt disease, bestrophinopathies, X-linked retinoschisis, Sorsby fundus dystrophy, Doyne honeycomb retina dystrophy, autosomal dominant drusen, occult macular dystrophy, North Carolina macular dystrophy, pattern dystrophy, and central areolar choroidal dystrophy.
PubMed: 36835965
DOI: 10.3390/jcm12041430 -
Indian Journal of Ophthalmology Oct 2019
Topics: Humans; Male; Middle Aged; Ophthalmoscopy; Retina; Retinoschisis; Visual Acuity
PubMed: 31546543
DOI: 10.4103/ijo.IJO_193_19 -
Survey of Ophthalmology 2022Degenerative retinoschisis is a common condition characterized by elevation of the inner layers of the peripheral retina. While uncomplicated retinoschisis (i.e., with... (Review)
Review
Degenerative retinoschisis is a common condition characterized by elevation of the inner layers of the peripheral retina. While uncomplicated retinoschisis (i.e., with no associated retinal layer breaks) is almost invariably a benign process, retinal detachment associated with isolated outer layer breaks (termed schisis-detachment) is fairly common. Historically, schisis-detachment has been treated with a variety of interventions, ranging from retinopexy to intraocular surgery. Based on published descriptions of the natural history of the disease, these interventions are likely unnecessary in many cases and may place the patient's vision at unnecessary risk. Progressive symptomatic schisis-related retinal detachment, on the other hand, is a vision threatening condition that requires intervention. While clinical examination remains the mainstay of diagnosis, recent advances in multimodal imaging can provide supplemental information in subtle cases and may prove valuable for long-term disease monitoring. When evaluating patients with peripheral retinal elevation, it is important for ophthalmologists to make an accurate diagnosis and to understand the risk-benefit ratio associated with intervention. Thus, we summarize the current literature on the natural history, clinical and imaging diagnosis, and surgical management of degenerative retinoschisis and its related complications.
Topics: Humans; Retina; Retinal Detachment; Retinal Perforations; Retinoschisis
PubMed: 34896193
DOI: 10.1016/j.survophthal.2021.12.004 -
BMC Research Notes May 2021Retinoschisis and Norrie disease are X-linked recessive retinal disorders caused by mutations in RS1 and NDP genes respectively. Both are likely to be monogenic and no...
OBJECTIVE
Retinoschisis and Norrie disease are X-linked recessive retinal disorders caused by mutations in RS1 and NDP genes respectively. Both are likely to be monogenic and no locus heterogeneity has been reported. However, there are reports showing overlapping features of Norrie disease and retinoschisis in a NDP knock-out mouse model and also the involvement of both the genes in retinoschisis patients. Yet, the exact molecular relationships between the two disorders have still not been understood. The study investigated the association between retinoschisin (RS1) and norrin (NDP) using in vitro and in silico approaches. Specific protein-protein interaction between RS1 and NDP was analyzed in human retina by co-immunoprecipitation assay and MALDI-TOF mass spectrometry. STRING database was used to explore the functional relationship.
RESULT
Co-immunoprecipitation demonstrated lack of a direct interaction between RS1 and NDP and was further substantiated by mass spectrometry. However, STRING revealed a potential indirect functional association between the two proteins. Progressively, our analyses indicate that FZD4 protein interactome via PLIN2 as well as the MAP kinase signaling pathway to be a likely link bridging the functional relationship between retinoschisis and Norrie disease.
Topics: Animals; Blindness; Eye Proteins; Genetic Diseases, X-Linked; Humans; Mice; Mutation; Nervous System Diseases; Retina; Retinal Degeneration; Retinoschisis; Spasms, Infantile
PubMed: 34039417
DOI: 10.1186/s13104-021-05617-5