ArticleOman journal of ophthalmology
Rod-cone dystrophy with myriad systemic manifestations.
Article in Oman journal of ophthalmology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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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Authors and funding
4 authors.
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Abstract
Rod-cone dystrophy (RCD) is an inherited retinal disorder primarily affecting rod photoreceptors, followed by cone degeneration. We present the case of a 26-year-old male with RCD and multiple systemic abnormalities (atrial septal defect, hypogonadism, liver disease with gastric varices, hypertriglyceredemia, hypothyroidism, adrenal insufficiency, and delayed epiphyseal closure) in the same individual. Ophthalmic evaluation revealed retinal pigment epithelial atrophy, bone spicule pigmentation, a macular hole in the right eye, and an epiretinal membrane in the left. Genetic testing identified a heterozygous ABCA4 c.3113C>T (p.Ala1038Val) mutation, previously associated with retinal dystrophies. We postulate that this case represents a unique blended phenotype, i.e., retinal disease due to ABCA4 and multiple systemic issues due to an unidentified syndrome.
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