Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

X-linked ocular albinism can be an unsuspected cause of congenital nystagmus in blacks. In this study, eight of ten black ocular albinos from two kindreds had nonalbinotic, moderately pigmented fundi and no transillumination of the iris. We refer to this paradoxical condition as "ocular albinism cum pigmento." The only constant ophthalmoscopic feature was a foveal hypoplasia. Biopsy of clinically normal skin to demonstrate giant pigment granules is the most accurate means of diagnosis.
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PMID:X-linked ocular albinism in Blacks. Ocular albinism cum pigmento. 66 26

A new form of ocular albinism, autosomal recessively inherited ocular albinism (AROA), was studied in seven females and two males from five unrelated Caucasian kindreds. Affected patients have the impaired vision, translucent irides, congenital nystagmus, photophobia, albinotic fundi with hypoplasia of the fovea, and strabismus that are also found in X-linked ocular albinism (XOA). Unlike XOA, however, this form of ocular albinism is inherited as an autosomal recessive trait, with females affected as severely as males. Obligate heterozygotes of AROA lack the ocular abnormalities that are present in females heterozygous for XOA. Also, skin and hairbulb biopsy specimens do not reveal any abnormalities in patients with AROA, whereas giant pigment granules are found in patients heterozygous and hemizygous for XOA. The recognition of this disorder is imperative for proper diagnosis and responsible genetic counseling.
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PMID:Autosomal recessively inherited ocular albinism. A new form of ocular albinism affecting females as severely as males. 68 4

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.
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PMID:Dyschromatosis universalis with X-linked ocular albinism. 180 18

A family with Nettleship Falls X-linked ocular albinism (NFXOA) was reported. The funduscopic examination revealed that both the male proband case and his maternal male cousin with nystagmus and amblyopia had macular hypoplasia and slightly less pigmented fundus than normal Japanese, and the carrier female (proband's mother) had the characteristic pigmentary mosaicism of the fundus. The slitlamp biomicroscopic examination revealed that the proband case's iris was less pigmented and the carrier female had the normal coloured iris. Translucency was not found in the iris of either the proband case or the carrier female. Hypopigmented maculas were found on the skin of the proband case. Histopathological findings of the cutaneous tissue of both the proband case and the carrier female showed macromelanosomes in the epidermis. The diagnosis of NFXOA is considered to be difficult by ocular clinical signs in the case of Japanese male patients without both characteristic albinotic fundus and the mother's pigmentary mosaicism of the fundus. Macromelanosomes recognized by skin biopsy are helpful for diagnosis.
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PMID:[A Japanese family of Nettleship Falls X-linked ocular albinism]. 208 39

Electrophysiological studies showed that a patient with Aland eye disease had no misrouting of the optic pathways which is always found in all forms of albinism as a consequence of the retino-geniculate anomaly. Also the spontaneous and optokinetic nystagmus did not resemble that of the large majority of human albinos. The marked asymmetry found in this patient seems to be typical for humans with a defective development of foveal binocular vision. These findings are in agreement with clinical, nystagmographic and EM findings that Aland eye disease is distinct from the Nettleship-Falls type of X-linked ocular albinism. Furthermore, Aland eye disease is different from X-chromosomal congenital stationary night blindness with myopia by the fact that the scotopic functions are only moderately affected and there is no restriction of the peripheral photopic visual fields. In addition, there is latent nystagmus of extraocular type that appears also in female carriers. There is no ophthalmoplegia, there is a progression of the myopia and the dyschromatopsia is of secondary type.
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PMID:Aland eye disease: no albino misrouting. 407 63

Thirty-one members of a family affected with X-linked ocular albinism (OA1) were studied to characterize the clinical phenotype and identify the disease-causing mutation. The family members were examined with ophthalmoscopy, electroretinography, and Goldmann perimetry. Linkage analysis was performed with markers from the OA1 locus. Exons 2 and 8 of the OA1 gene were assayed with the polymerase chain reaction (PCR). The six affected males had visual acuities ranging from 20/40 to 20/200. All had nystagmus, iris transillumination, and foveal hypoplasia. The eldest affected male had 20/40 vision and was asymptomatic. The level of the visual acuity of the affected males was not related to the degree of retinal pigmentation. All seven female carriers had normal visual function but were found to have iris transillumination defects and variable retinal pigmentary appearance ranging from minimal pigmentary disturbance, patchy and diffuse hypopigmentation, to classic 'mud-splattered' appearance. Linkage analysis was consistent with a disease-causing mutation at the OA1 locus. PCR analysis revealed a deletion which includes at least the portion of the OA1 gene between exons 2 and 8. Affected males with X-linked ocular albinism can have a visual disability that ranges from almost none to legal blindness, and the female carriers can have variable retinal pigmentary appearance. Mutation screening of the OA1 gene can be used to confirm the diagnosis in isolated males of some families, and genetic linkage analysis can be used to accurately identify carriers even when the specific mutation cannot be identified.
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PMID:Clinical and molecular characterization of a family affected with X-linked ocular albinism (OA1) 945 48

X-linked ocular albinism (OA1), Nettleship-Falls type, is characterized by decreased ocular pigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity. Affected males usually demonstrate melanin macroglobules on skin biopsy. We now report results of deletion and mutation screening of the full-length OA1 gene in 29 unrelated North American and Australian X-linked ocular albinism (OA) probands, including five with additional, nonocular phenotypic abnormalities (Schnur et al. 1994). We detected 13 intragenic gene deletions, including 3 of exon 1, 2 of exon 2, 2 of exon 4, and 6 others, which span exons 2-8. Eight new missense mutations were identified, which cluster within exons 1, 2, 3, and 6 in conserved and/or putative transmembrane domains of the protein. There was also a splice acceptor-site mutation, a nonsense mutation, a single base deletion, and a previously reported 17-bp exon 1 deletion. All patients with nonocular phenotypic abnormalities had detectable mutations. In summary, 26 (approximately 90%) of 29 probands had detectable alterations of OA1, thus confirming that OA1 is the major locus for X-linked OA.
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PMID:OA1 mutations and deletions in X-linked ocular albinism. 952 34

Albinism, caused by a deficiency of melanin pigment in the skin, hair, and eye (oculocutaneous albinism [OCA]), or primarily in the eye (ocular albinism [OA]), results from mutations in genes involved in the biosynthesis of melanin pigment. The lack of melanin pigment in the developing eye leads to fovea hypoplasia and abnormal routing of the optic nerves. These changes are responsible for the nystagmus, strabismus, and reduced visual acuity common to all types of albinism. Mutations in six genes have been reported to be responsible for different types of oculocutaneous and ocular albinism, including the tyrosinase gene (TYR) and OCA1 (MIM# 203100), the OCA2 gene and OCA2 (MIM# 203200), the tyrosinase-related protein-1 gene (TYRP1) and OCA3 (MIM# 203290), the HPS gene and Hermansky-Pudlak syndrome (MIM# 203300), the CHS gene (CHS1), and Chediak-Higashi syndrome (MIM# 214500), and the X-linked ocular albinism gene and OA1 (MIM#300500). The function of only two of the gene products is known tyrosinase and tyrosinase-related protein-1 both of which are enzymes in the melanin biosynthetic pathway. Continued mutational analysis coupled with function/structure studies should aid our understanding of the function of the remaining genes and their role in albinism. Mutation and polymorphism data on these genes are available from the International Albinism Center Albinism Database web site (http://www.cbc.umn.edu/tad).
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PMID:Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. 1009 67

A 39-year-old man with foveal hypoplasia, nystagmus, and decreased visual acuity was found to have multiple, cutaneous, hypopigmented macules. Macromelanosomes were demonstrated in normal skin on histopathologic examination. The patient's constellation of findings along with a strong X-linked inheritance pattern in family members led to the diagnosis of X-linked ocular albinism, which is an uncommon condition that is characterized by congenital nystagmus, iris translucency, hypopigmentation of the ocular fundus, strabismus, foveal hypoplasia, photophobia, and impaired vision.
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PMID:X-Linked ocular albinism; Nettleship-Falls ocular albinism. 1862 40

X-linked ocular albinism type 1 (OA1) is caused by mutations in G protein-coupled receptor 143 (GPR143) gene, which encodes a membrane glycoprotein localized to melanosomes. GPR143 mainly affects pigment production in the eye, resulting in optic changes associated with albinism, including hypopigmentation of the retina, nystagmus, strabismus, foveal hypoplasia, abnormal crossing of the optic fibers, and reduced visual acuity. We report the mutational analysis of the GPR143 gene on two unrelated families with OA1 using direct sequencing and real-time quantitative polymerase chain reaction. We identified the c.564_565delCT, a 2-bp deletion in family 1, and we mapped the breakpoints at nucleotide level of the novel intragenic deletion g.5360_6371del1012, encompassing exon 2, in family 2. Our results confirm that GPR143 is the major locus for OA1 and that exon 2 is a region of high susceptibility to deletions. Finally, we emphasize the quantitative polymerase chain reaction as a valid tool for diagnosis of deletions in the GPR143 gene.
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PMID:GPR143 mutational analysis in two Italian families with X-linked ocular albinism. 1960 13


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