Vitelliform macular dystrophy

Definition:

Vitelliform macular dystrophy is characterized by autosomal dominant inheritance and autofluorescent deposits within and beneath the retinal pigment epithelium. The onset of Juvenile vitelliform macular dystrophy (VMD2) is less than 30 years of age in most cases, whereas the onset of Adult-onset vitelliform macular dystrophy (AVMD) is between 30 and 50 years accompanied by slowly progressive visual loss.

References:

[1]. Gaël Manes, et al. Mutations in IMPG1 cause vitelliform macular dystrophies. Am J Hum Genet. 2013 Sep 5;93(3):571-8. [Content Brief]

[2]. Isabelle Meunier, et al. Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes. Ophthalmology. 2014 Dec;121(12):2406-14. [Content Brief]

[3]. J Wells, et al. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat Genet. 1993 Mar;3(3):213-8. [Content Brief]

[4]. K Petrukhin, et al. Identification of the gene responsible for Best macular dystrophy. Nat Genet. 1998 Jul;19(3):241-7. [Content Brief]

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