Cases reported "Albinism, Ocular"

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1/21. 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. ( info)

2/21. 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. ( info)

3/21. 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. ( info)

4/21. 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. ( info)

5/21. waardenburg syndrome in Japanese patients. case reports and literature review.

    A 3-year-old girl (case 1) had a blue iris and albinotic fundus in the right eye and bilateral deafness. Her 6-month-old sister (case 2) had hypopigmented irides and fundi in both eyes and bilateral deafness. We found that the ratios of interinner canthal distance to interpupillary distance were less than 0.65 in normal Japanese controls. In our patients, these ratios were within the normal range, indicating the absence of dystopia canthorum. After reviewing the recent Japanese literature, we found that the hypopigmented iris and deafness seen in our patients are common in Japanese patients with waardenburg syndrome. ( info)

6/21. Congenital grouped albinotic spots: a rare anomaly of the retinal pigment epithelium.

    We describe the fundus findings of a 6-year-old girl with congenital grouped albinotic retinal pigment epithelial spots distributed over the fundus including the macular area. Apart from the fundus changes functional and electrophysiologic findings were normal, and the family history was uneventful. At follow-up 3 years later, no progression was noted. ( info)

7/21. 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. ( info)

8/21. indocyanine green angiography pattern of congenital grouped albinotic retinal pigment epithelial spots.

    Congenital grouped albinotic retinal pigment epithelial spots (CGARPES) is a rare retinal pigment epithelium disease with multiple, white spots, generally involving the peripheral retina, with variable angiographic pattern. A 46-year-old male affected by CGARPES underwent fluorescein angiography and indocyanine green videoangiography. fluorescein angiography demonstrated an early hyperfluorescence of the spots. A peculiar pattern was revealed by indocyanine green videoangiography. Indeed, during the early phases the spots were either not detectable on the choroidal background, or presented slightly hypofluorescent, whereas during the intermediate and the late phases some spots became progressively hyperfluorecent. The angiographic behavior on indocyanine green may be explained considering a gradual staining of the lesions, with a progressive binding between the indocyanine green molecule and the abnormal retinal pigment epithelium material. ( info)

9/21. 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. ( info)

10/21. 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. ( info)
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