Autosomal Recessively Inherited Ocular Albinism

Yuan

Molecular Medicine Reports

et al. 2017

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 and adjacent introns of GPR143. The variation detected was analyzed by bidirectional DNA sequencing and further evaluated in 96 controls using heteroduplex-single strand conformational polymorphism analysis. Additionally, slit lamp photography of anterior segment, fundus photography and optical coherence tomography (OCT) were performed to identify the clinical features of OA1. In five patients with OA1, 5 GPR143 gene mutations were identified and four of them there were novel mutations. The screening rate is 62.5%, including c.333G>A (p.W111X), c.353G>A (p.G118E) (known mutation), C.658+2T>G (splice mutation), c.215_216insCGCTGC (p.71-72insAA) and c.17T>C (p. L6P). These mutations were absent in the 96 normal controls. Only one patient with OA1 in the present study was female. Patients with OA1 often have congenital nystagmus, refractive error, severe decline of visual acuity (from 0.1 to 0.4) and foveal hypoplasia. Different degrees of pigment loss were evident in the patients' iris and retina, whereas macular structure was not identified in the OCT examination. The findings of the present study expanded the gene mutation spectrum of GPR143 and investigated the clinical phenotype of patients with OA1 in the Chinese population. Additional evidence for clinical diagnosis was provided along with differential diagnosis and genetic counseling.

Section: Introductionmentioning

confidence: 99%

GPR143 mutations in Chinese patients with ocular albinism type 1

Yuan

Molecular Medicine Reports

et al. 2017

“…This is compatible with the fact that this type of OCA is the most common type of oculocutaneous albinism in Puerto Rico. 6 There was only one patient with the mutation leading to HPS Type 3. As reported by Anikster and coworkers, 10 this type of OCA is less prevalent in Puerto Rico.…”

Section: Discussionmentioning

confidence: 41%

“…6 A previous study done by Witkop and coworkers identified 693 patients with OCA in Puerto Rico. 7 Approximately five out of every six Puerto Rican patients with OCA have Hermansky-Pudlak syndrome (HPS).…”

mentioning

confidence: 43%

Foveal Thickness and Macular Volume in Patients With Oculocutaneous Albinism

Izquierdo

Emanuelli²,

Izquierdo³

et al. 2007

Retina

Results of this study suggest that patients with OCA (all types included) and patients with HPS-1 have thicker foveas than the general population. This may be due to the absence of foveal pit as part of foveal hypoplasia associated with OCA. Conversely, participants have lower macular volumes than the general population. This finding is compatible with loss of retinal nuclear layers in patients with OCA.

“…These studies prove that the Forsius-Eriksson syndrome is distinct from Nettleship-Falls X-linked ocular albinism. Previous studies of the Nettleship-Falls type of Xlinked ocular albinism have demonstrated macromelanosomes in comparably-sized skin biopsies, stained with hematoxylin and eosin, in all affected men and carrier women (O'Donnell et al 1976(O'Donnell et al , 1978b. Affected men typically have at least one macromelanosme in each section, but carrier women sometimes require as many as 20 sections to demonstrate a single macromelanosome.…”

Section: Discussionmentioning

confidence: 98%

Forsius‐Eriksson syndrome: Its relation to the Nettleship‐Falls X‐linked ocular albinism

et al. 1980

On the basis of clinical data, it had previously been proposed that the Forsius‐Eriksson syndrome is identical to Nettleship‐Falls X‐linked ocular albinism. We performed biopsies of clinically‐normal skin in patients with the Forsius‐Eriksson syndrome to look for the abnormal melanosomes characteristic of Nettleship‐Falls X‐linked ocular albinism. There were no abnormalities in the melanosomes of patients with Forsius‐Eriksson syndrome. Thus, this syndrome is distinct from the Nettleship‐Falls disorder.