ArticleBMC ophthalmology2022
The possible pathogenesis of macular caldera in patients with North Carolina macular dystrophy.
Article in BMC ophthalmology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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1 citing paper in PubMed, 1 citations in OpenAlex.
- Hidden in the Genome: The First Italian Family with North Carolina Macular Dystrophy Carrying a NovelBiomedicines · 2025Article
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6 authors at 1 institution in 1 country.
Funding
Abstract
backgroundThis study provides a detailed description of a Chinese family with North Carolina macular dystrophy (NCMD) and explores its possible pathogenesis.
methodsFive individuals from a three-generation family underwent general ophthalmic examination, multi-imaging examinations and visual electrophysiology examinations when possible. Genetic characterization was carried out by target region sequencing and high-throughput sequencing in affected patients.
resultsDespite severe fundus changes, patients had relatively good visual acuity. Genetic analysis showed that affected patients had PRDM13 gene duplication and heterozygous mutations of the ABCA4 gene. Optical coherence tomography (OCT) showed an abnormal retinal pigment epithelium (RPE) layer in patients with grade 2 lesions, while the neurosensory retina was relatively normal. In grade 3 patients, RPE and choroid atrophy were greater than that of the neurosensory retina, showing concentric atrophy.
conclusionsRPE and choroidal atrophy were found to play an important role in the development of macular caldera.
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