1/17. Non-bullous congenital ichthyosiform erythroderma, with ocular albinism and noonan syndrome.A 21-year-old woman presented with non-bullous congenital ichthyosiform erythroderma; she was born a collodion baby. Associated features were ocular albinism, anterior segment dysgenesis of both eyes and noonan syndrome. X-linked ichthyosis (steroid sulphatase deficiency) and X-linked ocular albinism have been mapped to the Xp22.3 region and cases have been reported with both conditions due to a partial short-arm deletion of the x chromosome. The ichthyosis and ocular albinism in the present case, however, are likely to be of the autosomal recessive type - a very rare association - and the combination with noonan syndrome has not been reported previously.- - - - - - - - - - ranking = 1keywords = ocular (Clic here for more details about this article) |
2/17. Clinical findings in Japanese patients with waardenburg syndrome type 2.PURPOSE: To determine the visual characteristics of Japanese subjects with the waardenburg syndrome type 2. methods: The visual functions of 11 albino patients who were identified from the screening of 240 children attending a school for children with a hearing deficit were studied. The ophthalmological examinations included eye position, visual acuity, biomicroscopy, ophthalmoscopy, visual field by confrontation or Goldmann's perimetry, stereoacuity by the Titmus test, and color vision by the Ishihara pseudoisochromatic plates. RESULTS: A combination of congenital sensory deafness and partial ocular albinism without lateral displacement of the lacrimal puncta was observed in 11 (4.6%) of the students with hearing deficit. All these children had sectorial heterochromia irides with local retinal hypopigmentation. Lid deformities were not present. The retinal vasculature was normal, and macular hypoplasty was not found. Other than 1 eye with hyperopic amblyopia, no serious visual disturbance was found in these patients. CONCLUSIONS: The 11 students were classified as having waardenburg syndrome type 2. None had a critical visual deficit, and all had partial heterochromia irides and retinal hypopigmentation.- - - - - - - - - - ranking = 0.14285714285714keywords = ocular (Clic here for more details about this article) |
3/17. chediak-higashi syndrome with progressive visual loss.BACKGROUND: The change of visual function in chediak-higashi syndrome has not been well described.CASES: The visual function of a 12-year-old Japanese girl with ocular albinism due to chediak-higashi syndrome was followed by periodic ophthalmological examinations.OBSERVATIONS: A lack of pigmentation in the iris and ocular fundus, and pigmentary degeneration of the peripheral retina were observed. The visual loss and the constriction of visual field progressed with increasing age. The electroretinogram was extinguished at 12 years of age.CONCLUSIONS: The constriction of the visual field may be due to the pigmentary degeneration of the ocular fundus. Ophthalmologists should be aware that progressive visual loss and the constriction of visual field can occur in patients with chediak-higashi syndrome as they grow older.- - - - - - - - - - ranking = 0.42857142857143keywords = ocular (Clic here for more details about this article) |
4/17. dyskeratosis congenita associated with elevated fetal hemoglobin, X-linked ocular albinism, and juvenile-onset diabetes mellitus.An 11-year-old boy had dyskeratosis congenita, elevated fetal hemoglobin level, X-linked ocular albinism, and juvenile-onset diabetes mellitus. A review of the international literature revealed that elevated fetal hemoglobin has been noted in 15 reported cases of dyskeratosis congenita. It is a previously unrecognized, commonly associated finding in dyskeratosis congenita that may provide insight into the location and function of the gene for dyskeratosis congenita.- - - - - - - - - - ranking = 0.71428571428571keywords = ocular (Clic here for more details about this article) |
5/17. New method for detecting misrouted retinofugal fibers in humans with albinism by magnetoencephalography.In humans with albinism, a large percentage of the ganglion cell axons from the temporal retina decussate abnormally in the chiasm and synapse in the contralateral LGN. The aim of this study was to determine whether the misrouting of the optic fibers can be detected by magnetoencephalography (MEG). Visually evoked magnetic fields (VEFs) were recorded from three patients with albinism. After monocular stimulation, the isofield contour maps of the VEFs showed a single current dipole pattern over the contralateral hemisphere in patients with albinism. These results clearly illustrated the reduced uncrossed retinofugal pathway of patients with albinism.- - - - - - - - - - ranking = 0.14285714285714keywords = ocular (Clic here for more details about this article) |
6/17. Ocular albinism in a male with del (6)(q13-q15): candidate region for autosomal recessive ocular albinism?We describe a boy with an interstitial deletion of 6(q13-q15) and include "coarse" facial features, upslanting palpebral fissures, thin vermilion border of the upper lip, elongated philtrum, developmental delay, and profound hypotonia. The child's eye findings, pedigree, paucity of maternal ocular changes, and lack of melanin macroglobules in the skin suggest that this individual's phenotype is clinically similar to that of autosomal recessive ocular albinism. Though it is possible that this deletion and his ophthalmic disorder are coincidental, we postulate that the ocular albinism may be due to hemizygosity for a paternally derived ocular albinism gene located on chromosome 6 in the region q13-q15. This patient's deletion is secondary to a recombination of a maternal intrachromosomal inverted insertion of this region. Of the 7 reported 6q1 deletions, this is the only case that is due to a familial chromosome rearrangement.- - - - - - - - - - ranking = 1.1428571428571keywords = ocular (Clic here for more details about this article) |
7/17. Dyschromatosis universalis with X-linked ocular albinism.A 10-year-old Chinese boy with the characteristic skin manifestations of dyschromatosis universalis is described. In addition, the patient had congenital nystagmus with poor visual acuity, and ophthalmological examination revealed foveal hypoplasia and albino-like fundi. Histopathology showed giant pigment granules in the skin. Based upon the finding of giant pigment granules in clinically normal skin of the patient's mother, the patient was diagnosed as a case of dyschromatosis universalis with X-linked ocular albinism. To the best of our knowledge, this is the first documented case of this combination.- - - - - - - - - - ranking = 0.71428571428571keywords = ocular (Clic here for more details about this article) |
8/17. X-linked ocular albinism. Characteristic pattern of affection in female carriers.The authors report on a family with X-linked ocular albinism. Examined were one of three affected males and eight females. Six women were carriers and showed iris retroillumination and typical abnormalities of the fundus. The patchy or striated hypopigmentation of the retinal pigment epithelium is thought to be due to random inactivation of the paternal or maternal X-chromosome respectively. The pattern of affection however represents a nonrandom embryological developmental pattern of the retinal pigment epithelium.- - - - - - - - - - ranking = 0.71428571428571keywords = ocular (Clic here for more details about this article) |
9/17. Hypoplastic corpus callosum in ocular albinism: indication of a global disturbance of neuronal migration.Ocular albinism is distinguished from the more common oculocutaneous albinism by the presence of normal pigmentation of skin and hair in the former condition. Recent studies of ocular albinism have shown that the hypopigmentation of the optic fundus is associated with a number of anomalies of neuronal wiring involving the visual system. We present a patient with ocular albinism who also has a hypoplastic corpus callosum as determined by analysis of midsagittal magnetic resonance imaging scans. Previous studies of the hypoplastic corpus callosum indicate that this anomaly is a defect in neuronal migration as well. The finding of a hypoplastic corpus callosum in a patient with ocular albinism suggests a more generalized defect in neuronal migration not limited to the visual system.- - - - - - - - - - ranking = 1keywords = ocular (Clic here for more details about this article) |
10/17. Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism.Autosomal recessive ocular albinism (AROA) is a disorder characterized by reduced pigmentation of the retina and iris, hypoplastic fovea, variably reduced visual acuity and nystagmus. Pigmentation of the skin and hair is normal, but is usually slightly lighter than in unaffected sibs. We analysed 12 unrelated patients with AROA, and found that two had abnormalities of the tyrosinase (TYR) gene. These two patients were each a compound heterozygote for a different pathologic mutant allele and an allele containing a 'normal' polymorphism, Arg402Gln, which results in a tyrosinase polypeptide with reduced thermal stability. In these patients, AROA thus appears to represent a clinically mild form of OCA1, with a fixed visual deficit resulting from low tyrosinase activity during fetal development but with normal pigmentation of the skin and hair postnatally.- - - - - - - - - - ranking = 0.71428571428571keywords = ocular (Clic here for more details about this article) |
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