نتایج جستجو برای: oca1a albinism
تعداد نتایج: 7091 فیلتر نتایج به سال:
BACKGROUND Albinism causes significant eye morbidity and amblyopia in children. The aim of this study was to determine the refractive state in patients with complete oculocutaneous albinism who were treated at the Gynaeco-Obstetric and Paediatric Hospital, Yaoundé, Cameroon and evaluate its effect on vision. METHODS We carried out this retrospective study at the ophthalmology unit of our hosp...
Novel Heterogenous CHS1 Mutations Identified in Five Japanese Patients with Chediak-Higashi Syndrome
Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by oculocutaneous albinism, recurrent bacterial infections and progressive neurological dysfunction. We demonstrate novel heterogenous mutations of CHS1, the responsive gene of CHS, identified in five Japanese patients with CHS. Patients 1, 2, and 3 were siblings, and they had albinism of the skin and hair. The...
The changes of dermal ridges in albinism patients were studied. The results obtained from subjects with albinism were compared with healthy subjects. A number of 30 patients were finally selected as our sample sizes. To gain a better understanding the results, a case-control study with the similar number of cases and control was designed. The related statistical test, t-test and chi-square, wer...
We read with interest the letter from Alan D. Springer, and would like to thank him for his critique of our recent work. We would like to respond by highlighting valid points, as well as address some clear misunderstandings. First, regarding the reference to ‘‘albinos,’’ a more acceptable term is ‘‘patient/subject/individual/person with albinism.’’ This sensitivity in wording places the person ...
Three experiments were carried out to clarify the effect of thyroid hormones on the pigmentation of larval Japanese flounder Paralichthys olivaceus. The first two experiments were conducted to investigate the critical concentration of thyroxine (T4) which causes abnormal pigmentation, and the third was to determine the sensitive stage of larval development at which albinism is induced by exogen...
PURPOSE The purpose of this study was to identify the molecular basis of albinism in a large cohort of Italian patients showing typical ocular landmarks of the disease and to provide a full characterization of the clinical ophthalmic manifestations. METHODS DNA samples from 45 patients with ocular manifestations of albinism were analyzed by direct sequencing analysis of five genes responsible...
OBJECTIVE To determine if sweep visual evoked potential (VEP) acuity is predictive of recognition acuity in children with albinism. METHODS A retrospective review was performed in children with albinism who underwent sweep VEP testing from 1992 to 2003. All patients had a complete ophthalmologic examination with either binocular or monocular sweep VEP testing and at least 5 years of follow-up...
Albinism, the loss of melanin pigmentation, has evolved in a diverse variety of cave animals but the responsible evolutionary mechanisms are unknown. In Astyanax mexicanus, which has a pigmented surface dwelling form (surface fish) and several albino cave-dwelling forms (cavefish), albinism is caused by loss of function mutations in the oca2 gene, which operates during the first step of the mel...
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