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Pigment loss, birth mark loss

Natsuko Mano, Tatsuma Mitsutsuji, Yamato Yoshikawa, Makiko Miyamoto, Hiroko Watanabe, Kazuhiro Shimizu, Michiko Miki, Masashi Mimura, Mari Ueki, Tsunehiko Ikeda
PURPOSE: Walker-Warburg syndrome (WWS) is a type of congenital muscular dystrophy (CMD) characterised by severe brain malformation, lissencephaly, and congenital eye abnormalities. Despite the coexistence of various eye abnormalities, results from optical coherence tomography (OCT) in WWS have not previously been reported. We herein report specific OCT findings in an infant with WWS. PATIENTS AND METHODS: The patient was a 14-day-old boy delivered by caesarean section at 38 weeks and 4 days of gestation and with a birth weight of 2,543 g...
May 2015: Case Reports in Ophthalmology
Mei Hong Tan, Donna S Mackay, Jill Cowing, Hoai Viet Tran, Alexander J Smith, Genevieve A Wright, Arundhati Dev-Borman, Robert H Henderson, Phillip Moradi, Isabelle Russell-Eggitt, Robert E MacLaren, Anthony G Robson, Michael E Cheetham, Dorothy A Thompson, Andrew R Webster, Michel Michaelides, Robin R Ali, Anthony T Moore
Leber Congenital Amaurosis (LCA) and Early Childhood Onset Severe Retinal Dystrophy are clinically and genetically heterogeneous retinal disorders characterised by visual impairment and nystagmus from birth or early infancy. We investigated the prevalence of sequence variants in AIPL1 in a large cohort of such patients (nā€Š=ā€Š392) and probed the likelihood of disease-causation of the identified variants, subsequently undertaking a detailed assessment of the phenotype of patients with disease-causing mutations...
2012: PloS One
S R Dharmaraj, E R Silva, A L Pina, Y Y Li, J M Yang, C R Carter, M K Loyer, H K El-Hilali, E K Traboulsi, O K Sundin, D K Zhu, R K Koenekoop, I H Maumenee
UNLABELLED: Leber congenital amaurosis (LCA, MIM 204001) is a clinically and genetically heterogeneous retinal disorder characterized by severe visual loss from birth, nystagmus, poor pupillary reflexes, retinal pigmentary or atrophic changes, and a markedly diminished electroretinogram (ERG). PURPOSE: To examine 100 consecutive patients with LCA in order to assess the relative burden of the three known genes involved in LCA, namely retinal guanylyl cyclase (GUCY2D), retinal pigment epithelium protein ( RPE65), and the cone-rod homeobox (CRX), and to define their clinical correlates...
September 2000: Ophthalmic Genetics
S Sanyal, A De Ruiter, R K Hawkins
Changes during the development and degeneration of the retina in 020/A mice, which are homozygous for the newly reported rds (retinal degeneration slow), gene were studied by histological and enzyme-histochemical methods with Balb/c mice carrying the normal allele as control. During normal development the total thickness of the retina grows from the time of birth till the age of 21 days and thereafter gradually diminishes, while the thicknesses of the component layers show a characteristic and differential change in course of their histogenesis...
November 1, 1980: Journal of Comparative Neurology
R T Robertson, R P Fogolin, A A Tijerina, J Yu
Geniculo-recipient layers of visual cortical area 17 in the laboratory rat display a transient pattern of acetylcholinesterase (AChE) activity during the second and third postnatal weeks of life. The appearance of the AChE histochemical reaction product and its distribution in thalamic recipient layers of cortical area 17 suggest that this transient AChE serves as a marker for the region of geniculocortical axon terminals. In the present study, infant rats were enucleated monocularly or binocularly on the day of birth...
June 1987: Brain Research
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