Ocular Albinism and Hypopigmentation Defects in Slc24a5—I— Mice
نویسندگان
چکیده
منابع مشابه
X linked ocular albinism in Japanese patients.
Thirteen affected Japanese male patients and 13 female carriers with X linked ocular albinism from seven families were examined to assess their clinical findings and to compare them with those of white and black patients. Affected Japanese patients had poor visual acuity, horizontal nystagmus, macular hypoplasia, and loss of stereopsis. Some affected patients had non-albinotic fundus with moder...
متن کاملOcular albinism with changes typical of carriers.
OCULAR albinism is a form of incomplete albinism in which the lack of pigment is chiefly confined to the eyes. The condition is relatively rare, but since it was described for the first time by Nettleship (1909), it has occasionally been demonstrated in various families. Nettleship was aware that the disease-producing gene was sex-linked, but assumed it to be recessive; recent investigations ha...
متن کاملGPR143 mutations in Chinese patients with ocular albinism type 1
The aim of the present study was to evaluate mutations of the G protein-coupled receptor 143 (GPR143) gene for ocular albinism type 1 (OA1) in Chinese patients. For the current study, 8 patients with OA1 were selected from the database of ocular genetic diseases. Genomic DNA of OA1 was prepared from venous leukocytes collected from the patients. Cycle sequencing was used to analyze the exons an...
متن کاملOcular albinism with unilateral sectorial pigmentation in the fundus.
retinal detachment were also found in one case by Cleary et al.4 Review of the current literature failed to identify any cases where retinal vasculitis predominated or where choroidal infarction occurred. Optic disc swelling is a recognised feature of posterior scleritis. In this case with such extensive vascular involvement it is possible that direct infarction of the optic nerve head could ha...
متن کاملTransillumination of iris and subnormal visual acuity--ocular albinism?
BACKGROUND A common clinical sign in children with subnormal visual acuity or slow visual development was iris transillumination. This was used as the inclusion criterion in a study of children shown to have a subnormal visual acuity in a general health examination at age 4 years. METHODS Refraction values, stereopsis, fundus photography, macular and nerve head appearance, and visual evoked r...
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ژورنال
عنوان ژورنال: Veterinary Pathology
سال: 2008
ISSN: 0300-9858,1544-2217
DOI: 10.1354/vp.45-2-264