Presentation of Complex Homozygous Allele in ABCA4 Gene in a Patient with Retinitis Pigmentosa
نویسندگان
چکیده
Retinitis pigmentosa is a degenerative retinal disease characterized by progressive photoreceptor damage, which causes loss of peripheral and night vision and the development of tunnel vision and may result in loss of central vision. This study describes a patient with retinitis pigmentosa caused by a mutation in the ABCA4 gene with complex allele c.1622T>C, p.L541P; c.3113C>T, p.A1038V in homozygous state.
منابع مشابه
Identification of a novel mutation in the ABCA4 gene in a Chinese family with retinitis pigmentosa using exome sequencing
Retinitis pigmentosa (RP) is a group of hereditary, degenerative retinal disorders characterized by progressive retinal dysfunction, outer retina cell loss, and retinal tissue atrophy. It eventually leads to tunnel vision and legal, or total blindness. Here we aimed to reveal the causal gene and mutation contributing to the development of autosomal recessive RP (arRP) in a consanguineous family...
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PURPOSE Stargardt disease (STGD), characterized by central visual impairment, is the most common juvenile macular dystrophy. All recessively inherited cases are thought to be due to mutations in the ABCA4 gene. Early-onset autosomal recessive retinitis pigmentosa (arRP) is a severe retinal degeneration that presents before the patient is ten years old. It has been associated with mutations in d...
متن کاملABCA4 gene mutations in Japanese patients with Stargardt disease and retinitis pigmentosa.
PURPOSE To evaluate photoreceptor cell-specific adenosine triphosphate (ATP)-binding cassette transporter (ABCA4) gene mutations in Japanese patients with Stargardt disease (STGD) and the correlation of these mutations to clinical phenotypes. METHODS Serum was obtained from 10 unrelated Japanese patients with STGD and 96 unrelated Japanese patients with autosomal recessive retinitis pigmentos...
متن کاملNull missense ABCR (ABCA4) mutations in a family with stargardt disease and retinitis pigmentosa.
PURPOSE To determine the type of ABCR mutations that segregate in a family that manifests both Stargardt disease (STGD) and retinitis pigmentosa (RP), and the functional consequences of the underlying mutations. METHODS Direct sequencing of all 50 exons and flanking intronic regions of ABCR was performed for the STGD- and RP-affected relatives. RNA hybridization, Western blot analysis, and az...
متن کاملشب کوری، هتروکرومیا و یووئیت در یک فرد از سلسله بیماران شب‌کور
The classical clinical triad of retinitis pigmentosa is arteriolar attenuation , retinal bone-spicule pigmentation and waxy disc pallor. A 33 year old female patient is introduced here. She had unilateral posterior subcapsular cataract, heterochromic iris, and uveitis.The patient also suffered night blindness , had a family history of low vision ,and reduced visual acuity in her right e...
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ورودعنوان ژورنال:
دوره 2015 شماره
صفحات -
تاریخ انتشار 2015