Pattern Dystrophy of the Macula in a Case of Steinert Disease

Esteves, Filipe; Dolz-Marco, Rosa; Hernández-Martínez, P.; Díaz-Llópis, Manuel; Gallego-Pinazo, Roberto

doi:10.1159/000355385

Cited by 10 publications

(2 citation statements)

References 14 publications

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“…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%

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%

Fundus flavimaculatus-like in myotonic dystrophy: a case report

et al. 2021

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“…Netthinneforandringene kan vaere asymptomatiske og ha godartet forløp, men noen kan gi alvorlig synsreduksjon (9). Optisk koherenstomografi er en sensitiv metode for å detektere epiretinal membran i makula og anbefales saerlig fordi epiretinal membran kan behandles (8).…”

Section: Netthinneforandringerunclassified

Øyesykdom ved dystrophia myotonica type 1

Boonstra,

Varhaug

2023

Tidsskriftet

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Choroidal Hyperreflective Foci in Stargardt Disease Shown by Spectral-Domain Optical Coherence Tomography Imaging

2015

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The presence of choroidal hyperreflective foci in Stargardt disease is, to our knowledge, a potentially new finding. Evaluation of these foci may aid in better understanding of the disease process.OBJECTIVES To report the presence of choroidal hyperreflective foci in spectral-domain optical coherence tomography (SD-OCT) images from eyes with Stargardt disease and investigate the relationship between the number of hyperreflective foci and disease severity. DESIGN, SETTING, AND PARTICIPANTS Twenty-six eyes of 13 patients with a clinical diagnosis of Stargardt disease were evaluated in a retrospective case series. Patient data were collected between January 1, 2009, and August 31, 2014. MAIN OUTCOMES AND MEASURESThe number of choroidal hyperreflective foci in Stargardt disease as well as correlation with visual acuity, central macular thickness (CMT), and disease duration were the main outcomes. A total of 707 macular SD-OCT scans of 13 patients with Stargardt disease were reviewed and evaluated for the presence and number of retinal/choroidal hyperreflective foci, central macular thickness, visual acuity, and disease duration. Enhanced depth imaging with OCT (EDI-OCT) scans available for 2 patients were compared with SD-OCT scans. A PubMed/Google search was performed to identify SD-OCT images in Stargardt disease; these findings were reviewed for the presence of choroidal hyperreflective foci. RESULTSThe mean (SD) numbers of hyperreflective foci in each retinal/choroidal layer in decreasing frequency were as follows: Bruch membrane/retinal pigment epithelial (RPE) complex, 78.22 (24.39); choriocapillaris, 25.77 (17.57); Sattler layer, 18.59 (12.89); outer retina, 16.64 (6.96); inner retina, 0.95 (1.58); and Haller layer, 0.73 (0.87). The number of hyperreflective foci in the Bruch membrane/RPE complex increased exponentially with decreasing CMT (R 2 = 0.99; P = .008). The number of hyperreflective foci in the Bruch membrane/RPE complex, choriocapillaris, and Sattler layer increased proportionally with decreasing visual acuity (R 2 = 0.97, R 2 = 0.95, and R 2 = 0.99, respectively; and P = .007, P = .006, and P = .008, respectively). Direct correlation existed between the number of hyperreflective foci in the choriocapillaris and the Sattler layer and disease duration (R 2 = 0.98 and R 2 = 0.99, respectively; and P = .006 and P =.009, respectively). In the 10 studies on Stargardt disease, choroidal hyperreflective foci were present in 51 of 54 SD-OCT images (94%). CONCLUSIONS AND RELEVANCEBased on the findings of the present study, choroidal hyperreflective foci in Stargardt disease, prominent at the Bruch membrane/RPE complex, choriocapillaris, and Sattler layer, correlate with disease severity in terms of retinal atrophy, decline in vision, and disease duration. Further studies are necessary to assess whether these findings are unique to Stargardt disease.

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Pattern Dystrophy of the Macula in a Case of Steinert Disease

Cited by 10 publications

References 14 publications

Fundus flavimaculatus-like in myotonic dystrophy: a case report

Fundus flavimaculatus-like in myotonic dystrophy: a case report

Øyesykdom ved dystrophia myotonica type 1

Choroidal Hyperreflective Foci in Stargardt Disease Shown by Spectral-Domain Optical Coherence Tomography Imaging

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