Pattern dystrophies of the retinal pigment epithelium

Swann, Peter G.; Collin, H Barry; Livanes, Aphrodite

doi:10.1111/j.1444-0938.2000.tb05016.x

Cited by 3 publications

(2 citation statements)

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“…Pigmented pattern dystrophies are a heterogeneous group of diseases that include different phenotypes depending on the distribution of pigment deposition above the RPE within the macular area. They can be divided in five groups according to the pattern form adopted by the distribution of these pigmented deposits [ 9 , 10 ]. The first group is adult-onset foveomacular vitelliform.…”

Section: Discussionmentioning

confidence: 99%

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Fundus flavimaculatus-like in myotonic dystrophy: a case report

et al. 2021

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Background Myotonic dystrophy is an inherited disease characterized by progressive muscle weakness and myotonia. It is a multisystemic disorder that affects different parts of the body, including the eye. Dysfunction of ocular muscles, ptosis and cataract are the most common ophthalmologic manifestations, but it can also present with pigmentary changes in the retina. This report presents and discusses an unusual case of a pigmented pattern dystrophy simulating a fundus flavimaculatus in a patient with myotonic dystrophy. Case presentation We present a case of a woman with a history of myotonic dystrophy and complaints of progressive vision loss who presented bilateral retinal pigmentary changes in posterior pole and midperiphery. The characteristics and distribution of pigmented deposits, as well as ancillary tests, showed a retinal phenotype compatible with a multifocal pattern dystrophy or a fundus flavimaculatus. Conclusions There are a few publications about retinal disorders in patients with myotonic dystrophy. When macular area is affected it tends to adopt a patterned-shape defined as butterfly dystrophy or reticular dystrophy. To our knowledge, this is the first report of a patient with myotonic dystrophy and multifocal pattern dystrophy or fundus flavimaculatus.

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Section: Discussionmentioning

confidence: 99%

“…It is characterized by bilateral accumulation of pigmented or yellowish material at resembling the wings of a butterfly [ 12 ]. Like the other groups, the pigmentation initially increases, with slow depigmentation and the appearance of atrophic changes in late stages [ 9 ]. The third group is reticular dystrophy.…”

Section: Discussionmentioning

confidence: 99%

Fundus flavimaculatus-like in myotonic dystrophy: a case report

et al. 2021

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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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