Results 121 to 130 of about 69,784 (157)
[Macular coloboma type Leber's congenital amaurosis].
Journal francais d'ophtalmologie, 2002 Three brothers, with the macular coloboma type Leber's congenital amaurosis aged 10, 8, and 6 years respectively, are described in this report. Only the two elder brothers were symptomatic while the third patient had no complaint at the time of diagnosis. The patients had no associated systemic or ocular disorders, including nystagmus.
Bozkurt, B, Kiratli, H
openaire +3 more sources
Macular coloboma in siblings affected by different phenotypes of retinitis pigmentosa
Eye, 2004 Purpose To report the clinical association between macular coloboma (early-onset macular dystrophies/atrophic changes) and different phenotypes of retinitis pigmentosa (RP).
Ciro Costagliola
exaly +1 more source
Some of the next articles are maybe not open access.
Related searches:
Related searches:
Retinal dystrophy and macular coloboma
Documenta Ophthalmologica, 1988Seven 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 ...
J R, Heckenlively +2 more
openaire +2 more sources
Ophthalmic Paediatrics and Genetics, 1983
An autosomal dominant inherited macular coloboma, not combined with other dysmorphies, is reported. Because of a 'sporadic'unilateral macular coloboma in a distant relative, penetrance may be reduced and expression varying. In one patient the coloboma was complicated by bilateral retinal detachment.
F. M. H. Pasman, A. Pinckers
openaire +1 more source
An autosomal dominant inherited macular coloboma, not combined with other dysmorphies, is reported. Because of a 'sporadic'unilateral macular coloboma in a distant relative, penetrance may be reduced and expression varying. In one patient the coloboma was complicated by bilateral retinal detachment.
F. M. H. Pasman, A. Pinckers
openaire +1 more source
Macular Colobomas in Leber's Congenital Amaurosis
American Journal of Ophthalmology, 1977Two siblings with Leber's congenital amaurosis had the unusual association of bilateral macular colobomas. In addition to the colobomas, the patients also had deafmutism, severe myopia, large corneas, and an unusual discrete area of peripapillary tapetoretinal sheen.
S, Margolis, B M, Scher, R E, Carr
openaire +2 more sources
MANAGEMENT OF MACULAR HOLE WITH CHOROIDAL COLOBOMA
RETINAL Cases & Brief Reports, 2010Choroidal colobomas represent failure of closure of the fetal fissure during embryogenesis. Eyes with colobomas can develop complex retinal detachments. We present a case of a patient presenting with a macular hole in her only useful eye with an extramacular choroidal coloboma.A 56-year-old woman was referred with a 3-month history of central ...
Nadeem, Ahmad, Richard M, Sheard
openaire +2 more sources
Bilateral macular colobomas in Leber's congenital amaurosis
Documenta Ophthalmologica, 1989Two siblings with Leber's congenital amaurosis had bilateral macular colobomas, nystagmus, extinguished ERGs, and degenerative salt and pepper like changes in the fundus. They had non-recordable or non-meaningful visually evoked cortical potentials in response to both flash and pattern stimuli.
K, Murayama, E, Adachi-Usami
openaire +2 more sources
Retinal aplasia in association with macular coloboma, keratoconus and cataract
Clinical Genetics, 1973Two families are described in which macular autosomal recessive retinal aplasia was confirmed by electroretinography. In one family macular coloboma, not previously reported in retinal aplasia. was associated with near complete blindness. In another family there were two affected siblings and their parents were firat zuuains. In a malc sibling, retinal
D A, Leighton, R, Harris
openaire +2 more sources
Congenital macular colobomas and short‐limb skeletal dysplasia
American Journal of Medical Genetics, 1980AbstractWe report a previously undescribed association of severe short‐limbed dwarfism and macular colobomas with histological changes of cartilage resembling to some extent those of diastrophic dysplasia.Chance occurrence of two rare disorders due to different causes is considered unlikely and the patient is presumed to have a syndrome of, as yet ...
Richard D. Smith +7 more
openaire +2 more sources
Journal of the American Optometric Association, 1990
Macular coloboma is a congenital retinochoroidal defect of the macular region. It is a bilateral, nonprogressive condition that is associated with decreased visual acuity and nystagmus. A case of a 14-year-old boy with an unusual presentation of extensive macular colobomata is described.
openaire +1 more source
Macular coloboma is a congenital retinochoroidal defect of the macular region. It is a bilateral, nonprogressive condition that is associated with decreased visual acuity and nystagmus. A case of a 14-year-old boy with an unusual presentation of extensive macular colobomata is described.
openaire +1 more source