Vitelliform macular degeneration associated with mitochondrial myopathy.

Modi, Girish; Heckman, Jessica; Saffer, D

doi:10.1136/bjo.76.1.58

Cited by 9 publications

(3 citation statements)

References 7 publications

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“…5 Our patient developed, at the late age of 48 years, a macular lesion resembling vitelliform macular dystrophy on her right eye. Mody et al 6 reported a patient with bilateral vitelliform macular degeneration associated with mitochondrial myopathy. However, to the best of our knowledge, there have been no previous reports of such macular lesion occurring in association with KSS.…”

Section: Discussionmentioning

confidence: 99%

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Macular lesion resembling adult‐onset vitelliform macular dystrophy in Kearns–Sayre syndrome with multiple mtDNA deletions

Ascaso

López‐Gallardo

Prado

et al. 2010

Clinical Exper Ophthalmology

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We present the case of a 48-year-old woman with a clinically and histopathologically confirmed Kearns-Sayre syndrome who developed a maculopathy resembling an adult-onset vitelliform macular dystrophy in her right eye. DNA analysis identified the presence of multiple deletions in the mtDNA of the muscle sample, with the common deletion of 4977 bp the most abundant. To the best of our knowledge, there have been no previous reports of such macular lesion occurring in association with Kearns-Sayre syndrome.

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Section: Discussionmentioning

confidence: 99%

“…Our patient developed, at the late age of 48 years, a macular lesion resembling vitelliform macular dystrophy on her right eye. Mody et al 6 . reported a patient with bilateral vitelliform macular degeneration associated with mitochondrial myopathy.…”

Section: Discussionmentioning

confidence: 99%

Macular lesion resembling adult‐onset vitelliform macular dystrophy in Kearns–Sayre syndrome with multiple mtDNA deletions

Ascaso

López‐Gallardo

Prado

et al. 2010

Clinical Exper Ophthalmology

View full text Add to dashboard Cite

show abstract

“…5. Bird Abnormality of the RPE (69,70) Abnormality of Bruch's membrane (71,72) Abnormality of the choriocapillaris (73,74) Immune system activation (75,76) Abnormal scleral rigidity (77) Mitochondrial dysfunction (78,79) Light toxicity (80)(81)(82) Nutritional deficiencies (83)…”

Section: Discussionmentioning

confidence: 99%

Molecular genetics of age-related macular degeneration

Stone

Sheffield

Hageman

2001

Human Molecular Genetics

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The numerous conditions that clinicians group under the term 'age-related macular degeneration' (AMD) are collectively the most common cause of severe visual loss in the developed world. Moreover, the number of people affected by these diseases is expected to nearly double in the next 25 years. A growing body of data suggests that a large fraction of AMD is caused by genetic factors. As a result, numerous investigators have sought genes that contribute to this disorder. At least six genes have now been identified that cause heritable macular disease, but none of these seem to cause even a moderate fraction of AMD. Affected pedigree member studies suggest that some regions of the genome do harbor AMD predisposing genes, but none have yet been identified by this approach. Studies of human donor tissue have yielded important new insights into pathways associated with AMD. These studies, when combined with the power of genetic approaches, are likely to ultimately reveal a set of genes responsible for a sizeable fraction of AMD.

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Vitelline Macular Dystrophy

Doss

Kumar

Narayan

2014

Encyclopedia of Life Sciences

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Vitelline macular dystrophy (also known as Best disease) is a progressive, chronic disease of the macula (central retina) at the back of the eye. Best disease is characterised by the development of a lesion in the retinal pigment epithelium and emerging as one of the leading causes of blindness in both juvenile and adult cases. This disease has an autosomal dominant pattern of inheritance with varied penetrance and expressivity. Diagnosis of this disease is delayed due to the fact that the individual may be asymptomatic for several years and the disease can be identified only after visual acuity reduces, during which the disease could have progressed to later stages. Mutations observed in the BEST1 and PRPH2 genes are involved in development of the disease. In this article, a review of the history, genetics and pathophysiology, diagnosis and treatment is outlined for further understanding of this disease. Key Concepts: Macular dystrophy is a rare, genetic condition of the eye, wherein the macula, which is the central part of the retina, is damaged due to successive buildup of eye pigments within the epithelial cells of the retina. There are two main types of this disease: Best disease, which is seen in juvenile cases, and adult‐onset macular dystrophy. Best disease is also known as early‐onset or juvenile vitelliform macular dystrophy. It is an autosomal dominant disorder characterised by the accumulation of specific eye pigment material in the subretinal space, which leads to the formation of a lesion on the macula. Adult‐onset vitelliform macular dystrophy is a disease of the retina wherein central vision loss occurs in the fourth or fifth decade of life. It is an autosomal dominant disorder. It is a dystrophy of the retinal pigment epithelium causing lesions on the macula. VMD2 gene, also known as the BEST1 gene, codes for a protein called bestrophin. This protein functions as a chloride ion channel in the eye and its dysfunction leads to buildup of pigments and eventual loss of central vision. PRPH2 gene codes for a protein called peripherin. This protein is essential for light sensing in the retina. Mutations in this gene lead to central vision loss.

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Vitelliform macular degeneration associated with mitochondrial myopathy.

Abstract: A patient with mitochondrial myopathy is described. Examination of his fundus revealed bilateral viteiliform degeneration of the maculae. This lesion is a focal abnormality of the retinal pigment epithelium and may be a manifestation of the underlying mitochondrial disease.

Cited by 9 publications

References 7 publications

Macular lesion resembling adult‐onset vitelliform macular dystrophy in Kearns–Sayre syndrome with multiple mtDNA deletions

Macular lesion resembling adult‐onset vitelliform macular dystrophy in Kearns–Sayre syndrome with multiple mtDNA deletions

Molecular genetics of age-related macular degeneration

Vitelline Macular Dystrophy

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