Spider dystrophy as an ocular manifestation of myotonic dystrophy

Louprasong, Amber C.; Light, Dennis J.; Diller, Rebecca

doi:10.1016/j.optm.2009.08.013

Cited by 6 publications

(4 citation statements)

References 28 publications

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“…It appears as an initial pigmented lesion within the macula that is accompanied by a network of granular pigmented deposits radial to the central point, resembling a ‘fishnet’, all limited to the posterior pole [ 13 ]. Some specific phenotypes are included in this group, such as spider dystrophy, also known as macroreticular dystrophy [ 14 ]. The fourth group is multifocal pattern dystrophy.…”

Section: Discussionmentioning

confidence: 99%

“…Kimizuka et al analyzed a series of 49 patients (98 eyes) in patients with myotonic dystrophy and they found in 26 eyes (26.6%) butterfly-shapped macular pigmentary changes, in 24 eyes (24.5%) reticular pigmentary changes and in 43 eyes (43,9%) peripheral atrophic polygonal-shaped changes [ 16 ]. There are a couple of studies in the Korean population that analyze ophthalmological findings in these types of patients [ 17 , 18 ], with a reported incidence of pigmentary changes in the retina much lower than Kimizuka et al There are also a few reported cases of patients with myotonic dystrophy and retinal butterfly dystrophy [ 19 , 20 ] and spider dystrophy [ 14 ] but, to our knowledge, there are no other reported cases that associate myotonic dystrophy with other retinal dystrophies.…”

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%

Section: Discussionmentioning

confidence: 99%

Fundus flavimaculatus-like in myotonic dystrophy: a case report

et al. 2021

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“…Although several reports previously described the ocular involvement in myotonic dystrophies, the majority of them refer to palpebral ptosis, cataract or ocular motility changes [3, 4, 5]. Very few publications raise the concern of retinal involvement in these patients with anecdotal reports about lamellar macular holes and foveoschisis [8], pigmentary changes of the RPE [9, 10, 11, 12] or uveal melanoma [13]. …”

Section: Discussionmentioning

confidence: 99%

Pattern Dystrophy of the Macula in a Case of Steinert Disease

Esteves

Dolz-Marco

Hernández-Martínez³

et al. 2013

Case Rep Ophthalmol

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Introduction: Myotonic dystrophies are typically associated with ocular complications like ptosis, weakness of the ocular muscle and cataracts, but also with less recognized retinal changes. Case Report: A 41-year-old female with type 1 myotonic dystrophy complained of progressive vision loss. Slit lamp examination revealed the presence of typical bilateral polychromatic cataract with posterior subcapsular component. Dilated fundus examination was remarkable for bilateral macular depigmented changes. Multimodal imaging analysis of the macula suggested the presence of a butterfly-shaped pattern dystrophy. Discussion: In cases of myotonic dystrophies it is of great relevance to analyze the presence of retinal changes that might limit the visual improvement following cataract extraction.

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“…In the ocular system of these patients, the incidence of lens opacities is very high and manifests as posterior subcapsular, iridescent, multicolored cataracts. Moreover, changes in the Retinal pigment epithelium (RPE), known as Pigment pattern dystrophy (PPD), could be present in the peripheral retina or in macula, mimicking retinitis pigmentosa (Grover et al, 2002;Kim et al, 2009;Louprasong et al, 2010). The ocular muscles are also affected, resulting in external ophthalmoplegia, bilateral motility disturbance, obicularis oculi and levator muscle weakness, and ptosis.…”

Section: Multisystemic Symptomatologymentioning

confidence: 99%