Dystrophia retinae pigmentosa, Fundus flavimaculatus and Stargardt’s Disease in One Family

Meel, Gerard J. van; Winkelman, J.E.

doi:10.1159/000309179

Cited by 4 publications

(5 citation statements)

References 5 publications

(7 reference statements)

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“…On the other hand, Fonda and Gardner [10] examined 88 patients and found only 14% myopia and stated that the refraction of these patients was not significantly different compared to a normal population. In earlier case studies, emmetropia [19,20] and low myopia [21][22][23] has been found. Stargardt [1] observed that eyes with all kinds of refractions can be affected.…”

Section: Discussionmentioning

confidence: 94%

“…Typically, the red-green defect is on the red side [30][31][32] described as pseudoprotanomaly or Verriest acquired type I red-green defect [33]. However, there are several studies which report green defects in Stargardt's disease [23,26,34,35]. Most of the studies only report red-green defects without defining them either to the red or to the green side [10,19,20,24,27,36].…”

Section: Discussionmentioning

confidence: 99%

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Stargardt's disease

Mäntyjärvi

Tuppurainen

1992

Doc Ophthalmol

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Three families including seven members with Stargardt's disease were examined. In addition to the affected family members, 43 of the relatives had an eye examination. In one family, there was a consanguineous marriage to be found. The heredity was most probably autosomal recessive in all of the three families. The ages of the seven patients with Stargardt's disease varied from 13 to 50 years, visual acuities from 0.05 to 1.0, and refraction from -8.5 to +2.25 D. In fundus, absent foveal reflex, atrophic macular spots and yellow perimacular flecks could be observed; one patient had also yellow flecks in the peripheral retina. In the visual fields, a central scotoma was found in five patients. Dark adaptation was abnormal in three patients and electroretinogram in one patient. All of the patients had defective red colour vision. In the fluoresceinangiogram, hyperfluorescent macular spots and dark choroid could be observed. The ophthalmological findings are discussed comparing them to the earlier observations of this disease.

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Section: Discussionmentioning

confidence: 94%

Section: Discussionmentioning

confidence: 99%

Stargardt's disease

Mäntyjärvi

Tuppurainen

1992

Doc Ophthalmol

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“…Sorsby [1] described an adolescent boy with RP and central macular dystrophy in 1940. and a cluster of cases in another family in 1941 [2], A case of RP associated with macular dystrophy in a 31-year-old man was reported by François and Berman de Scggiaro [3] : the ERG was subnormal. Charney et al [4] documented a case of Stargardt's macular dystrophy and RP in a 16-year-old black male student, while Van Meel and Winkelman [5] reported a family in which RP. FFM and Stargardt's disease were all associated.…”

Section: Discussionmentioning

confidence: 99%

“…In the literature only a few cases have been described in which the two disorders are associated [1][2][3][4][5]. Al though pigmentary type alterations with clumps of pigment scattered across the retina are frequently observed in FFM, the electroretinographical changes are slight, whereas they are severe in RP.…”

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confidence: 99%

Associated Retinitis pigmentosa and Fundus flavimaculatus

Santoni¹,

Lupidi²,

Ricci³

1987

Ophthalmologica

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A family is described with 2 members, father and son, affected by associated retinitis pigmentosa and fundus flavimaculatus, whereas 1 other member had a combination of retinitis pigmentosa and unilateral central areolar atrophy, 1 member a fundus flavimaculatus with electroretinographic findings indicative of a subciinical form of retinitis pigmentosa and the last one with electroretinographic findings indicative of a subciinical form of retinitis pigmentosa.

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“…The patient had 20/20 visual acuity; the haziness of the right eye angiogram is due to opacity of the lens nucleous. found associated with retinitis pigmentosa (van Meel & Winkelman 1982;Fiore et al 1987). A mitochondria1 DNA mutation (nucleotide position 15257), which mainly induces Leber's hereditary optic neuropathy, may also trigger Stargardt disease/fundus flavimaculatus (Heeher & Johns 1993).…”

Section: Case Reportsmentioning

confidence: 99%

Pattern dystrophies of the retinal pigment epithelium

Daniele

Carbonara

Daniele

et al. 1996

Acta Ophthalmologica Scandinavica

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Pattern dystrophies of the retinal pigment epithelium are infrequent fundus abnormalities arranged in various patterns of dots, lines and branches. The basic lesion appears to be yellow deposits of abnormal lipofuscin accumulated within degenerated retinal pigment epithelium cells. Examinations were carried out on two families who had developed different patterned alterations in the retinal pigment epithelium. The proband of family 1 had diffuse changes associated with equatorial folds. One sister had a macular alteration. A daughter was normal; a son had bilateral atrophy of the temporal retinal pigment epithelium. The proband of family 2 had bilateral, symmetrical retinal pigment epithelium lesions that simulated fundus flavimaculatus. His first daughter had a central lesion in her right eye. The second daughter, a peripapillary crescent of hyperpigmentation in her right eye, and circumpapillary chorioretinal atrophy associated with foveolar abnormalities in the left. This report provides further evidence that variable types of pattern dystrophy can occur within a single family pedigree and support the current opinion that all forms of pattern dystrophies are variants of a single pathogenic mechanism.

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Dystrophia retinae pigmentosa, Fundus flavimaculatus and Stargardt’s Disease in One Family

Cited by 4 publications

References 5 publications

Stargardt's disease

Stargardt's disease

Associated Retinitis pigmentosa and Fundus flavimaculatus

Pattern dystrophies of the retinal pigment epithelium

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