An unusual retinal vascular morphology in connection with a novel AIPL1 mutation in Leber's congenital amaurosis
نویسندگان
چکیده
منابع مشابه
An unusual retinal vascular morphology in connection with a novel AIPL1 mutation in Leber's congenital amaurosis.
AIMS To report a case of an unusual retinal vascular morphology in connection with a novel AIPL1 mutation in a patient with Leber's congenital amaurosis (LCA). METHODS A patient with LCA and no light perception from birth had both eyes enucleated at the age of 22 years because of excruciating pain. Mutation analysis was performed on known LCA genes. The eyes were processed for casts of the va...
متن کاملDifferential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis.
PURPOSE To evaluate genotypic and macular morphologic correlations in patients with RPE65-, CEP290-, GUCY2D-, or AIPL1-related Leber congenital amaurosis (LCA) using spectral-domain optical coherence tomography (SD-OCT). METHODS SD-OCT macular scans were performed in 21 patients, including 10 with RPE65, 7 with CEP290, 3 with GUCY2D, and 1 with AIPL1 mutations. An image processing software wa...
متن کاملA Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene. The main feature of this disorder is muscle membrane hyperexcitability. Here, we report a 59-year male patient suffering from congenital myotonia. He had transient generalized myotonia, which...
متن کاملRetinal astrocytic hamartoma in a patient with Leber's congenital amaurosis.
To cite: Ambiya V, Kuppermann BD, Narayanan R. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2014208374 DESCRIPTION Retinal astrocytic hamartomas are rare benign tumours that can arise from any location in the retina or from the optic nerve head. Multifocal and bilateral lesions are likely to be associated with tuberous sclerosis and neurofibromatosis 2 but are ...
متن کاملNovel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.
PURPOSE To report a large, consanguineous Algerian family affected with Leber congenital amaurosis (LCA) or early-onset retinal degeneration (EORD). METHODS All accessible family members underwent a complete ophthalmic examination, and blood was obtained for DNA extraction. Homozygosity mapping was performed with markers flanking 12 loci associated with LCA. The 15 exons of TULP1 were sequenc...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 2003
ISSN: 0007-1161
DOI: 10.1136/bjo.87.8.980