- ►nih.gov - Free from Publisher SA Kabanarou, GE Holder, FW Fitzke, AC … - British Journal of Ophthalmology, 2004 - bjo.bmj.com Results: Affected individuals reported night blindness from an early age. Visual
acuities were normal. Fundal appearances were normal apart from one older
patient showing areas of peripheral chorioretinal atrophy. Autofluorescence ... Cited by 16 - Related articles - BL Direct - All 8 versions
KG Noble, RE Carr, IM Siegel - American journal of ophthalmology, 1990 - ncbi.nlm.nih.gov We studied three members of three successive generations of a family with
autosomal dominant congenital stationary night blindness and normal fundi.
Psychophysical studies on two members showed normal final cone thresholds ... Cited by 20 - Related articles - All 2 versions
RG Weleber, N Gupta, KM Trzupek, MS … - Molecular Genetics and Metabolism, 2004 - Elsevier Infantile neuronal ceroid lipofuscinosis (INCL) is an autosomal recessive
disease that results from deficiency of palmitoyl-protein thioesterase-1 (PPT1).
INCL leads to retinal blindness, neurodegeneration, and early death. We ... Cited by 12 - Related articles - All 4 versions
M Hayakawa, Y Imai, M Wakita, K Kato, K … - Ophthalmic Genetics, 1992 - informahealthcare.com A Japanese pedigree of autosomal dominant congenital ... MUTSUKO HAYAKAWA',
YOSHIE IMAI l, MARIKO WAKITA', KAZUO KATO', KENJI YANASHIMA2, YOZO MIYAKE3 and
ATSUSHI KANAI' ... 'Department of Ophthalmology, Juntendo University ... Cited by 8 - Related articles - BL Direct - All 3 versions
SA Kabanarou, GE Holder, FW Fitzke, AC … - The British Journal of Ophthalmology, 2004 - ukpmc.ac.uk Results: Affected individuals reported night blindness from an early age. Visual
acuities were normal. Fundal appearances were normal apart from one older
patient showing areas of peripheral chorioretinal atrophy. Autofluorescence ... Related articles
MJ Abramowicz, P Ribai, M Cordonnier - American Journal of Medical Genetics Part A, 2005 - interscience.wiley.com Congenital stationary night blindness (CSNB) is a group of rare, non-progressive
conditions of the retina characterized by abnormal rod function causing impaired
night vision. Among them, the Schubert-Bornschein subgroup, itself divided ... Cited by 7 - Related articles - All 3 versions
M Hegde, RA Lewis, CS Richards - Genetic testing, 2002 - liebertonline.com Albinism is a group of inherited conditions in which affected individuals have
less than normal pigment in the eyes, skin, and hair compared to others of the
same race and ethnic background. The prevalence of all types of albinism in ... Cited by 8 - Related articles - BL Direct - All 4 versions
