Homozygosity for a NovelABCA4Founder Splicing Mutation Is Associated with Progressive and Severe Stargardt-like Disease

Abstract

These results expand the genotype-phenotype correlation of ABCA4, showing that homozygosity for the novel c.4254-15del23 splicing mutation is associated with a severe progressive form of disease.

A Homozygous Frameshift Mutation inBEST1Causes the Classical Form of Best Disease in an Autosomal Recessive Mode

“…In regular protocol, dark adaptation is performed for at least 30 -40 minutes before recording of dark-adapted followed by light-adapted responses. 18 with other genes modulate disease type and severity. The present study, along with two additional recent reports, 16,17 confirms that BEST1 can also cause AR Best disease.…”

“…Clinical evaluation included a detailed family history, a full ophthalmologic examination, EOG, FFERG, color vision testing using the Panel D-15 test, OCT, color and infrared fundus photos, autofluorescence (AF) imaging, and fluorescein angiography (FA), performed as previously described. 18 Briefly, FFERGs were recorded using monopolar corneal electrodes (Henkes-type, Medical Workshop B.V., Groningen, the Netherlands) and a computerized system (UTAS 3000; LKC, Gaithersburg, MD). In the dark-adapted state, a rod response to a dim blue flash and a mixed cone-rod response to a white flash were acquired.…”

Exome Sequencing Identifies a Founder Frameshift Mutation in an Alternative Exon of USH1C as the Cause of Autosomal Recessive Retinitis Pigmentosa with Late-Onset Hearing Loss

“…Ocular evaluation included a full ophthalmologic exam, Goldmann perimetry, electroretinography (ERG), color vision testing using the Ishihara 38-panel and Farnsworth-Munsell D-15 tests, color and infrared fundus photos, optical coherence tomography (OCT), and fundus autofluorescence (FAF) imaging performed as previously described [12].…”

Insight and Advancement in Hereditary Retinal Degenerations

“…44 The angiogram. [46][47][48] The angiographic finding is related to diffuse blockage by excess RPE lipofuscin accumulation. 46 Visual field testing is often normal early in the disease course but progresses to central scotoma.…”

“…46 Visual field testing is often normal early in the disease course but progresses to central scotoma. 47 ERG is typically normal early in the disease but may progress to prolonged implicit times or generalised depression of amplitude late in the disease course. 48 Histopathological studies support the notion that the underlying genetic defect leads to the accumulation of lipofuscin, 49 a metabolic waste product and subsequent retinal and RPE dysfunction as a result of photoreceptor cell loss.…”