2004
DOI: 10.1038/sj.eye.6700689
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Abstract: 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. Ey… Show more

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Cited by 7 publications
(4 citation statements)
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“… 25 , 26 Intrafamilial variable RP phenotypes have also been previously described. 27 Intrafamilial variability in families MA88 and MA157 were also observed. For both families, all arRP males developed cataracts by the age of 10, while the females with arRP were either diagnosed with less severe cataracts later (i.e., between 17 and 20 years or did not develop cataracts; i.e., by 20 years of age).…”
Section: Discussionmentioning
confidence: 88%
“… 25 , 26 Intrafamilial variable RP phenotypes have also been previously described. 27 Intrafamilial variability in families MA88 and MA157 were also observed. For both families, all arRP males developed cataracts by the age of 10, while the females with arRP were either diagnosed with less severe cataracts later (i.e., between 17 and 20 years or did not develop cataracts; i.e., by 20 years of age).…”
Section: Discussionmentioning
confidence: 88%
“…[3] It also was described the concomitance between macular coloboma and other retinochoroidal diseases, such as retinitis pigmentosa, Leber amaurosis, and retinal dystrophy, and so on. [17,18] The infection of toxoplasma and Zika virus was reported to be in association with macular coloboma. [3,7] Intrauterine infection of Zika virus can cause congenital macular coloboma and cataract in infants.…”
Section: Discussionmentioning
confidence: 99%
“…Figure 16 shows a case of bilateral macular coloboma with medullated nerve fibres. Macular colobomata have been described as genetic disorders [ 45 ], associated with congenital amaurosis of Leber and other retinal dystrophies [ 46 ], and congenital toxoplasmosis. On OCT, congenital developmental colobomas have total absence of retina and choroid in the atrophic central area of the scar while in congenital toxoplasmosis, there is retinal thinning, RPE hyper-reflectivity, excavation, intra-retinal cysts and fibrosis [ 47 , 48 ].…”
Section: Introductionmentioning
confidence: 99%