Macular Colobomas in Leber's Congenital Amaurosis

Margolis, Sheila; Scher, Barry M.; Carr, Ronald E.

doi:10.1016/0002-9394(77)90187-8

Cited by 56 publications

(17 citation statements)

References 9 publications

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“…The geographic pattern or islands of the lesions were different from the fundus lesions of typical retinitis pigmentosa and pigmented paravenous retinochoroidal atrophy [7]. Peripapillary tapetoretinal dis turbance was reported in 2 siblings with macular colobomas and Leber's congenital amaurosis [5], The lesions in our patient could be differentiated from Leber's congen ital amaurosis, which involves severe visual impairment at birth or shortly thereafter, nystagmus, and an absent or markedly dete riorated ERG. Congenital retinal dystrophy associated with bilateral macular colobomas was previously shown by Moore et al [10].…”

Section: Discussionmentioning

confidence: 89%

“…Several reports have described patients with macular colo boma combined with peripheral retinal changes such as retinitis pigmentosa [4], Leber's congenital amaurosis [5], pigmented paravenous retino-choroidal atrophy [7], and congenital retinal dystrophy [10]. To our knowledge, progressive peripheral retinal changes in association with macular coloboma are rare.…”

Section: Introductionmentioning

confidence: 99%

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Bilateral Macular Coloboma Associated with Progressive Atrophy of the Peripheral Retina

Funada

Okamoto²,

Hayasaka³

1989

Ophthalmologica

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An 11-year-old girl with poor visual acuity since birth was found to have nearly complete defects of the retinochoroidal tissue in the central areas of both fundi and almost normal peripheral retinas. Her parents were first cousins. At age 24, the patient reported night blindness. An examination showed geographic atrophy of the peripheral retina and stationary macular lesions in both eyes. Her condition appeared to be a rare case of bilateral macular coloboma associated with progressive peripheral retinal atrophy.

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Section: Discussionmentioning

confidence: 89%

Section: Introductionmentioning

confidence: 99%

Bilateral Macular Coloboma Associated with Progressive Atrophy of the Peripheral Retina

Funada

Okamoto²,

Hayasaka³

1989

Ophthalmologica

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“…14,17,18,20,21 Several cases of bilateral macular coloboma associated with different manifestations of peripheral chorioretinal inherited dystrophy have been previously reported. [4][5][6][7][8][9][10][11] Also, keratoconus has been described in patients with these ophthalmoscopic findings, but they were always nonfamilial cases. 4,5 The male members of this Caucasian family were affected by different typical RP phenotypes, 20,21 characterised by the presence of mid-peripheral bone spicules involving, respectively, the entire retina (classic RP; Case 1 and also the deceased father of the siblings) and only a retinal sector (sector RP; Case 3).…”

Section: Discussionmentioning

confidence: 99%

“…of the condition) among those patients with a hereditary or family origin, [1][2][3] and among those with other ocular or systemic abnormalities. [4][5][6][7][8][9][10][11] Several reports have described patients with macular coloboma associated with peripheral retinal changes such as retinitis pigmentosa (RP), 4 retinal aplasia, 5 Leber's congenital amaurosis, 6,7 retinal dystrophy, 8,9 progressive atrophy of the peripheral retina, 10 or pigmented paravenous retinochoroidal atrophy. 11 The purpose of this paper is to present the clinical characteristics in three adult siblings who exhibited a bilateral macular coloboma (early-onset macular dystrophies/atrophic changes), associated with different RP phenotypes.…”

Section: Introductionmentioning

confidence: 99%

Macular coloboma in siblings affected by different phenotypes of retinitis pigmentosa

Parmeggiani

Milan²,

Costagliola

et al. 2004

Eye

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Purpose To report the clinical association between macular coloboma (early-onset macular dystrophies/atrophic changes) and different phenotypes of retinitis pigmentosa (RP). Methods Three young-adult siblings, two males and one female, were retrospectively studied. These patients underwent two complete ophthalmologic examinations (27-month follow-up), including orthoptic evaluation, colour vision test, visual field, corneal topography, electronystagmography, fluorescein angiography, and electroretinography. Eye check, automated visual field test, and complete electroretinographic study were also conducted on other asymptomatic members of the same family. Results All symptomatic siblings were affected by manifest congenital nystagmus, poor visual acuity, and progressive visual field impairment in both eyes, bilaterally presenting macular coloboma associated with three different RP patterns: classic RP; mild dystrophy of the retinal pigment epithelium, associated with subnormal electroretinographic findings (subclinical form of RP); and sector RP. The ophthalmologic reports regarding their deceased father documented that he had suffered from the same alterations of ocular movements and visual performances diagnosing, in both eyes, extensive atrophic changes of the macular area completely surrounded by pigmented bone spicules (RP-type tapeto-retinal dystrophy). The other investigated relatives did not show any specific and/or significant ocular disorder. Conclusions In these three adult members of the same family, the concomitance between macular coloboma and different intrafamilial RP phenotypes is described. This association represents an autosomal dominant clinical entity, hitherto observed only in non familial sporadic cases.

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“…The latter family appears to have a very early onset progressive cone-rod dystrophy with blindness by age 30. The other form of autosomal recessive congenital pigmentary retinopathy have macular staphylomata, also commmonly called colobomata, even though the abnormality is not due to an embryonic failure in closure of midline structures (Freedman, 1971;Margolis, 1977).…”

Section: Introductionmentioning

confidence: 99%

Retinal dystrophy and macular coloboma

1988

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Seven cases of retinal dystrophy associated with bilateral macular colobomata are presented. Two separate entities were found. The first is a congenital onset pigmentary retinopathy similar in electrophysiologic findings and symptoms to typical Leber's congenital amaurosis; the second appears to be a form of pregressive cone-rod dystrophy with pigmentary retinopathy. Review of the pertinant literature and clinical evidence suggest that both conditions are distinct entities inherited in the autosomal recessive manner.

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Macular Colobomas in Leber's Congenital Amaurosis

Cited by 56 publications

References 9 publications

Bilateral Macular Coloboma Associated with Progressive Atrophy of the Peripheral Retina

Bilateral Macular Coloboma Associated with Progressive Atrophy of the Peripheral Retina

Macular coloboma in siblings affected by different phenotypes of retinitis pigmentosa

Retinal dystrophy and macular coloboma

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