ArticleThe British journal of ophthalmology2003
An unusual retinal vascular morphology in connection with a novel AIPL1 mutation in Leber's congenital amaurosis.
Article in The British journal of ophthalmology, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 22 citations in OpenAlex.
- Restoring Sight: The Journey of AIPL1 from Discovery to Therapy.International journal of molecular sciences · 2025Review
- Article
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- Photoreceptor cells and RPE contribute to the development of diabetic retinopathy.Progress in retinal and eye research · 2021Review
- Optimization of fixative solution for retinal morphology: a comparison with Davidson's fixative and other fixation solutions.Japanese journal of ophthalmology · 2018Article
- Do photoreceptor cells cause the development of retinal vascular disease?Vision research · 2017Review
- Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2016Article
- Photoreceptor Cells Influence Retinal Vascular Degeneration in Mouse Models of Retinal Degeneration and Diabetes.Investigative ophthalmology & visual science · 2016Article
- Microscopic inner retinal hyper-reflective phenotypes in retinal and neurologic disease.Investigative ophthalmology & visual science · 2014Article
- Ectopic Pax2 expression in chick ventral optic cup phenocopies loss of Pax2 expression.Developmental biology · 2008Article
- The Leber congenital amaurosis protein AIPL1 functions as part of a chaperone heterocomplex.Investigative ophthalmology & visual science · 2008Article
- Identification of differentially regulated proteins in a patient with Leber's Congenital Amaurosis--a proteomic study.Proteome science · 2007Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimsTo 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).
methodsA 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 vascular tree, routine histopathology, and electron microscopy.
resultsA novel H82Y (244C-->T) mutation and a H90D (286G-->C) polymorphism were detected in exon 2 of the AIPL1 gene. Both the cast and the histopathological examination showed dilated retinal vessels, mainly venules, primarily localised in the posterior pole. In the mid-peripheral retina the density of capillaries on the arteriolar side of the microcirculatory units was significantly decreased. The vascular system was seen to gradually attenuate towards the retinal periphery, and to stop at a zone located approximately 4 mm from the ora serrata along the whole circumference. In this zone pigmented aggregates characteristic of retinitis pigmentosa were seen to ensheath the retinal vessels. The photoreceptors were almost totally absent and retinal gliosis was present. A decreased number of ganglion cells and an increased vacuolisation of the nerve fibre layer were observed. The retinal pigment cells and Bruch's membrane appeared normal in all regions.
conclusionAn unusual retinal vascular morphology in an LCA patient is presented and possible pathogenic mechanisms of the findings are discussed.
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