Showing papers by "Bart P. Leroy published in 2014"
TL;DR: The approach uncovered unusual molecular findings and unmasked syndromic retinal dystrophies, guiding future medical management and emphasized that identity-by-descent–guided mutation analysis and/or whole-exome sequencing are powerful tools for the molecular diagnosis of Retinal dystrophy.
60 citations
TL;DR: This study shows for the first time that abnormal afferent system development is associated with FRMD7 mutations and could be an important etiological factor in the development of nystagmus.
Abstract: Idiopathic infantile nystagmus (IIN) is a genetically heterogeneous disorder, often associated with FRMD7 mutations. As the appearance of the retina is reported to be normal based on conventional fundus photography, IIN is postulated to arise from abnormal cortical development. To determine whether the afferent visual system is involved in FRMD7 mutations, we performed in situ hybridization studies in human embryonic and fetal stages (35 days post-ovulation to 9 weeks post-conception). We show a dynamic retinal expression pattern of FRMD7 during development. We observe expression within the outer neuroblastic layer, then in the inner neuroblastic layer and at 9 weeks post-conception a bilaminar expression pattern. Expression was also noted within the developing optic stalk and optic disk. We identified a large cohort of IIN patients (n = 100), and performed sequence analysis which revealed 45 patients with FRMD7 mutations. Patients with FRMD7 mutations underwent detailed retinal imaging studies using ultrahigh-resolution optical coherence tomography. The tomograms were compared with a control cohort (n = 60). The foveal pit was significantly shallower in FRMD7 patients (P < 0.0001). The optic nerve head morphology was abnormal with significantly decreased optic disk area, retinal nerve fiber layer thickness, cup area and cup depth in FRMD7 patients (P < 0.0001). This study shows for the first time that abnormal afferent system development is associated with FRMD7 mutations and could be an important etiological factor in the development of nystagmus.
53 citations
TL;DR: Cite this article as: Fanny Morice-Picard, Eulalie Lasseaux, Stéphane François, Delphine Simon, Caroline Rooryck, Eric Bieth, Estelle Colin, Dominique Bonneau, Hubert Journel, Sophie Walraedt, SLC24A5 Mutations are Associated with NonSyndromic Oculocutaneous Albinism.
39 citations
TL;DR: Analysis of two representative mutations that occur in CSNB2 patients revealed fundamental differences in the underlying defect, which may explain subtle variations in the clinical manifestation and must be taken into account, if channel function is to be restored by pharmacochaperones or related approaches.
25 citations
01 Jan 2014
TL;DR: The condition represents a clinically and genetically heterogeneous group of disorders, with little or no retinal sensitivity at birth or shortly thereafter, and is thought to be responsible for up to 18 % of blindness in children.
Abstract: Leber congenital amaurosis (LCA) is a retinal dystrophy of congenital onset first described by Theodor Leber in 1869 [1]. The condition is part of a spectrum of early retinal blindness and is continuous in age of onset with early-onset retinal dystrophy (EORD), which generally presents in the first few years of life, rather than at, or immediately after birth. With an incidence of around 1/80.000 [2], LCA is thought to be responsible for up to 18 % of blindness in children [3]. The condition represents a clinically and genetically heterogeneous group of disorders, with little or no retinal sensitivity at birth or shortly thereafter [4–6].
4 citations
01 Jan 2014
TL;DR: This report underlined that this condition is different from retinitis pigmentosa (RP), and both choroideraemia and RP patients suffer from initial night blindness and subsequent progressive concentric constriction of visual fields.
Abstract: Choroideraemia is an X-linked progressive degeneration of the retina and the choroid [1–3]. The primary site of the disease is the retinal pigment epithelium (RPE), outer retina and choroid [2, 4]. The specific features of affected males and female carriers were first described by C and RJP McCullough, in their 1948 report on a large Canadian family in which choroideraemia segregated [3]. This report also underlined that this condition is different from retinitis pigmentosa (RP) [3]. Nevertheless, both choroideraemia and RP patients suffer from initial night blindness and subsequent progressive concentric constriction of visual fields. An exact incidence is unknown, although the condition is certainly not as frequent as the different subtypes of RP taken together.
1 citations
01 Jan 2014
TL;DR: Adult Refsum disease is an inborn error of lipid metabolism that results in high levels of plasma phytanic acid and is associated with a combination of retinitis pigmentosa, peripheral polyneuropathy and cerebellar ataxia.
Abstract: Adult Refsum disease (ARD) was first described in 1946 as heredopathia atactica polyneuritiformis. The disorder was later shown to be an inborn error of lipid metabolism, peroxisomal in origin, that results in high levels of plasma phytanic acid (PhyAc) and is associated with a combination of retinitis pigmentosa (RP), peripheral polyneuropathy and cerebellar ataxia. There are characteristic CSF changes.