Inherited Macular Dystrophies and Differential Diagnostics

Medicina ◽  
2012 ◽  
Vol 48 (9) ◽  
pp. 72 ◽  
Author(s):  
Rasa Liutkevičienė ◽  
Vaiva Lesauskaitė ◽  
Virginija Ašmonienė ◽  
Arvydas Gelžinis ◽  
Dalia Žaliūnienė ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Visual Loss ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Genetic Research ◽  
Gene Mutations ◽  
Disease Spread ◽  
Differential Diagnostics

The inherited macular dystrophies are characterized by different grade central visual loss and different character macula atrophy, because of retinal pigment epithelium lesion. The cause of photoreceptors degeneration is still not known. In this article, we review subjective and objective ophthalmological examines essential to diagnosis and differential diagnosis of inherited autosomal dominant and autosomal recessive macular dystrophies. It is known seven gene mutations (ABCA4, ELOVL4, PROML1, VMD2, Peripherin/RDS, TIMP3, XLRS), which may cause inherited macular dystrophies development. Inheritance type of inherited macular dystrophies, prevalence, beginning of disease, spread of the disease between female and male, clinic, electroretinography, electrooculography, differential diagnosis, genetic research and prognosis are also reviewed.

scholarly journals Therapeutic Potential of α-Synuclein Evolvability for Autosomal Recessive Parkinson’s Disease

2021 ◽  
Vol 2021 ◽  
pp. 1-11
Author(s):  
Jianshe Wei ◽  
Gilbert Ho ◽  
Yoshiki Takamatsu ◽  
Eliezer Masliah ◽  
Makoto Hashimoto
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Therapeutic Potential ◽  
Gene Mutations ◽  
Mitochondrial Alteration ◽  
Rational Therapy ◽  
Ubiquitin Proteasome ◽  
Dominant Genes

The majority of Parkinson’s disease (PD) is sporadic in elderly and is characterized by α-synuclein (αS) aggregation and other alterations involving mitochondria, ubiquitin-proteasome, and autophagy. The remaining are familial PD associated with gene mutations of either autosomal dominant or recessive inheritances. However, the former ones are similar to sporadic PD, and the latter ones are accompanied by impaired mitophagy during the reproductive stage. Since no radical therapies are available for PD, the objective of this paper is to discuss a mechanistic role for amyloidogenic evolvability, a putative physiological function of αS, among PD subtypes, and the potential relevance to therapy. Presumably, αS evolvability might benefit familial PD due to autosomal dominant genes and also sporadic PD during reproduction, which may manifest as neurodegenerative diseases through antagonistic pleiotropy mechanism in aging. Indeed, there are some reports describing that αS prevents apoptosis and mitochondrial alteration under the oxidative stress conditions, notwithstanding myriads of papers on the neuropathology of αS. Importantly, β-synuclein (βS), the nonamyloidogenic homologue of αS, might buffer against evolvability of αS protofibrils associated with neurotoxicity. Finally, it is intriguing to predict that increased αS evolvability through suppression of βS expression might protect against autosomal recessive PD. Collectively, further studies are warranted to better understand αS evolvability in PD pathogenesis, leading to rational therapy development.

Homozygous and Compound Heterozygous Mutations in the Telomerase Reverse Transcriptase Gene in Two Families with Spontaneous Dyskeratosis Congenita and Idiopathic Aplastic Anemia.

Blood ◽  
2007 ◽  
Vol 110 (11) ◽  
pp. 1675-1675
Author(s):  
Hong-Yan Du ◽  
Elena Pumbo ◽  
Peter Manley ◽  
David B. Wilson ◽  
Philip Mason ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Autosomal Recessive ◽  
Amino Acid Change ◽  
Autosomal Dominant ◽  
Bone Marrow Failure ◽  
Gene Mutations ◽  
Dyskeratosis Congenita ◽  
Compound Heterozygous ◽  
The Family ◽  
Tert Gene

Abstract Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome. Classically, DC presents with progressive bone marrow failure, abnormal skin pigmentation, nail dystrophy, and mucosal leukoplakia. The pattern of inheritance in families with DC suggests an X-linked recessive, an autosomal dominant, and an autosomal recessive form of DC. However, in the majority of patients the occurrence of the disease is sporadic or the family history is unknown. Mutations in four different genes have been associated with DC so far. Mutations in DKC1 have been shown to account for the X-linked form of DC and DKC1 de novo mutations account for about one third of male patients with sporadic disease. Mutations in the telomerase RNA TERC and in the catalytic subunit of telomerase, TERT, have been shown to be responsible for the autosomal dominant form of DC. Interestingly, patients with heterozygous mutations in TERC and TERT often show a milder form of disease and a later age of onset and often lack the classic mucocutaeous features, thus are classified as atypical DC. Very recently homozygosity for a mutation in NOP10 has been identified in one family with autosomal recessive disease. The products of the genes mutated in DC are all components of the telomerase complex, suggesting that disease in patients with DC is caused by a defect in telomere maintenance. Here we investigated two patients, one UPN # 199.001 presenting with the classic manifestations of DC and the other UPN# 284.001 presenting with progressive bone marrow failure but no other clinical features suggestive of DC. In both patients the telomeres measured in peripheral blood mononuclear cells were very short, being defined as being below the 1st percentile. Mutation analysis in the genes associated with DC revealed that patient 199.001 was homozygous for a novel TERT (C2110T) gene mutation, causing an amino acid change (P704S) within the RT domain of TERT. Both parents were heterozygous for the C to T transition. Interestingly however, the father was in addition heterozygote for a second mutation in TERT (C1234T; H412Y) a mutation which has previously been described and has been shown to reduce telomerase activity by 50%. Investigations of the family revealed that the parent’s were distantly related, explaining the same TERT sequence alteration in both parents. Both arms of the family contained members with pulmonary fibrosis. In the second patient 284.001 we identified two different novel TERT gene mutations. One A2537G causes the amino acid change Y846C in the RT domain of TERT whereas the other C2628G causes H876Q also in the RT domain. One of the mutations was inherited from each parent and the parent with the A2537G mutation also had very short telomeres. These two families illustrate that the pattern of inheritance in patients with DC may be complex and show for the first time that homozygous or compound heterozygous TERT gene mutation may be associated with DC. Co-dominance of the three different TERT gene mutations and the inheritance of short telomeres have possibly contributed to development of disease in these patients who were thought to have sporadic DC and idiopathic aplastic anemia.

scholarly journals Presumed Sympathetic Ophthalmia after Scleral Buckling Surgery: Case Report

2020 ◽  
Author(s):  
Seyedeh Maryam Hosseini ◽  
Nasser Shoeibi ◽  
Mahdieh Azimi Zadeh ◽  
Mahdi Ghasemi ◽  
Mojtaba Abrishami
Keyword(s):  
Female Patient ◽  
Visual Loss ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Subretinal Fluid ◽  
Scleral Buckling ◽  
Sympathetic Ophthalmia ◽  
Low Risk ◽  
Systemic Involvement ◽  
Break Site

Abstract Background: Scleral buckling (SB) is usually considered an extraocular operation, and it is presumed to have low risk of sympathetic ophthalmia (SO). We aimed to report a rare case of presumed SO in a young female patient following SB. Case Presentation: A nineteen year-old female patient was referred for visual loss in her left eye because of macula off inferior longstanding rhegmatogenous retinal detachment (RD). Best corrected visual acuity (BCVA) was 20/400 in the left eye. SB with 360 degrees encircling band and inferior segmental tire, with one spot cryoretinopexy at the break site and subretinal fluid drainage was performed. One week after operation, BCVA was improved to 20/80 and retina was totally attached. Six weeks later, patient came with severe visual loss in both eyes as counting finger 1 meter. Bilateral multifocal serous RD and vitreous cells was found. The patient was diagnosed as sympathetic Ophthalmia, and treated with intravenous corticosteroid pulse therapy and mycophenolate mofetil. The inflammation was controlled and serous RD resolved after five days intravenous treatment and was not relapsed after six months. BCVA became 20/20 in right eye and 20/50 in the left eye after six months. Systemic workup was negative for any extraocular disease or systemic involvement. Conclusion: As SB usually considered as a procedure without manipulating intraocular tissues, it is considered to have low risk for SO. In this report, we presented SO occurance after successful SB. Inciting the choroid and retinal pigment epithelium with cryoretinopexy or perforating for drainage may induce SO.

Macular Edema and Visual Loss after Macular Pucker Surgery with ICG-Assisted Internal Limiting Membrane Peeling

2005 ◽  
Vol 15 (2) ◽  
pp. 289-291 ◽  
Author(s):  
D. Tognetto ◽  
C. Haritoglou ◽  
A. Kampik ◽  
G. Ravalico
Keyword(s):  
Macular Edema ◽  
Visual Loss ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Cataract Extraction ◽  
Internal Limiting Membrane ◽  
Macular Pucker ◽  
Epiretinal Membranes ◽  
Pars Plana

Purpose To describe the occurrence of massive macular edema and visual loss after indocyanine green-assisted (ICG) macular pucker surgery. Methods/Results A 74 years old female presented with a macular pucker and a hypertrophy of the retinal pigment epithelium (RPE) in her left eye. The preoperative visual acuity (VA) was 20/100. Surgery consisted of cataract extraction, lens implantation and standard pars plana vitrectomy with peeling of epiretinal tissue followed by the removal of the internal limiting membrane (ILM) remnants stained using a 0.05% ICG solution. One day after surgery, VA was counting fingers. There was an extensive macular edema and retinal thickening with hyperfluorescence during fluorescein angiography and pronounced autofluorescence using ICG filters. During follow up, the macular edema resolved completely, but VA decreased to 20/800 at six months postoperatively. There was a central scotoma and unstable fixation seen during microperimetry. Discussion This case report indicates that ICG might come into contact with bare retina if injected following removal of epiretinal membranes. Whether the observed RPE hypertrophy might have contributed to the pathogenesis of the adverse effect described remains hypothetical.

scholarly journals Small choroidal melanoma and pseudomelanomas: methods of differential diagnostics (literature review). Part 2

2020 ◽  
Vol 13 (2) ◽  
pp. 88-98
Author(s):  
E. B. Myakoshina
Keyword(s):  
Literature Review ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Choroidal Melanoma ◽  
Metastatic Carcinoma ◽  
Posterior Pole ◽  
Age Related Macular Degeneration ◽  
Fluorescence Angiography ◽  
Differential Diagnostics ◽  
Age Related

The first part of the literature review described the ophthalmoscopic picture of the small choroidal melanoma and pseudomelanomas [ROJ, 2019; 12 (4): 99–108]. This is the second part of the review, which describes the features characteristic of small uveal melanoma and pseudomelanomas, revealed by fluorescence angiography and autofluorescence. Typical properties of fluorescence and autofluorescence are presented for every disease of the eye fundus studied: small choroidal melanoma, choroidal nevus, circumscribed choroidal hemangioma, melanocytoma, choroidal metastatic carcinoma, congenital hypertrophy of the retinal pigment epithelium, late-stage age-related macular degeneration, focal retinochoroiditis of the posterior pole, organized subretinal hemorrhage, retinal hemangioma. The attention was focused on the similarity of angiographic and autofluorescence symptoms of the diseases under study. The need for new differential diagnostic criteria was emphasized.

scholarly journals HEREDITARY MACULAR DYSTROPHIES. PART 1. DYSTROPHIES ASSOCIATED WITH DYSFUNCTION OF RETINAL PIGMENT EPITHELIAL CELLS

2018 ◽  
Vol 13 (2) ◽  
pp. 103-108
Author(s):  
L. A Katargina ◽  
E. V Denisova ◽  
Natal’ja A. Osipova
Keyword(s):  
Differential Diagnosis ◽  
Retinal Pigment Epithelium ◽  
Retinal Pigment Epithelial ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Retinal Pigment Epithelial Cells ◽  
Review Of The Literature ◽  
Pigment Epithelial ◽  
Medical Articles ◽  
Pigment Epithelial Cells

Purpose - to acquaint the reader with a relatively rare heterogeneous group of diseases - hereditary macular dystrophies associated with damage to cells of retinal pigment epithelium and external segments of photoreceptors. А review of the literature based on publications from the Medline scientific medical articles database is presented. The review includes a description of the clinical picture, consideration of diagnosis and differential diagnosis of the main juvenile macular dystrophies, illustrated by own clinical examples.

scholarly journals Importance of Autoimmune Responses in Progression of Retinal Degeneration Initiated by Gene Mutations

2021 ◽  
Vol 8 ◽  
Author(s):  
Grazyna Adamus
Keyword(s):  
Retinal Degeneration ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Gene Mutations ◽  
Retinal Disease ◽  
Photoreceptor Cells ◽  
Site Effect ◽  
Gene Replacement ◽  
Genetic Mutation ◽  
Contributory Factor

Inherited retinal diseases (IRDs) are clinically and genetically heterogeneous rare disorders associated with retinal dysfunction and death of retinal photoreceptor cells, leading to blindness. Among the most frequent and severe forms of those retinopathies is retinitis pigmentosa (RP) that affects 1:4,000 individuals worldwide. The genes that have been implicated in RP are associated with the proteins present in photoreceptor cells or retinal pigment epithelium (RPE). Asymmetric presentation or sudden progression in retinal disease suggests that a gene mutation alone might not be responsible for retinal degeneration. Immune responses could directly target the retina or be site effect of immunity as a bystander deterioration. Autoantibodies against retinal autoantigens have been found in RP, which led to a hypothesis that autoimmunity could be responsible for the progression of photoreceptor cell death initiated by a genetic mutation. The other contributory factor to retinal degeneration is inflammation that activates the innate immune mechanisms, such as complement. If autoimmune responses contribute to the progression of retinopathy, this could have an implication on treatment, such as gene replacement therapy. In this review, we provide a perspective on the current role of autoimmunity/immunity in RP pathophysiology.

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