case_images: PMC3398502_01
case_images: Pedigree of the large consanguineous Moroccan OPA7 family with haplotypes at the 11q13.5-q14.2 region. The parents are half-first cousins with one common ancestor. The arrow indicates the proband. Black symbols represent affected subjects, and the gray symbol represents the brother with Uhthoff's phenomenon. The homozygosity region is boxed. The distance between D11S1321 and D11S896 is 11.9 cM. The TMEM126A position is indicated.
case_images: mv-v18-1849-f1.jpg
case_images: PMC3398502_01_mv-v18-1849-f1.jpg
case_images: f1
case_images: The proband, II:1, a 36-year-old man, was the first child of consanguineous, half-first cousin parents of Moroccan origin (Figure 1). The consanguinity of the asymptomatic parents (half-first cousins with one common ancestor; Figure 1), the absence of symptoms in previous generations and the fact that two males and one female were affected strongly suggested autosomal recessive inheritance.
case_images: Eye fundi. The right eye (A) and left eye (B) fundi of II:1 show pale optic discs on both eyes. The right eye (C) and left eye (D) fundi of II:3 show temporal pallor of both dics.
case_images: mv-v18-1849-f2.jpg
case_images: PMC3398502_01_mv-v18-1849-f2.jpg
case_images: f2
case_images: His visual acuity was <20/400 bilaterally (at age 16), the optic discs showed bilateral pallor (Figure 2), the patient had an absolute central scotoma bilaterally (Figure 3A) and severe dyschromatopsia, the standard electroretinogram was normal, and OCT showed thinning of all RNFL bundles (Figure 4A).
case_images: Visual fields. The right and left eye visual fields (Goldmann perimeter are represented for II:1 (A), II:3 (B), and II:7 (C).
case_images: mv-v18-1849-f3.jpg
case_images: PMC3398502_01_mv-v18-1849-f3.jpg
case_images: f3
case_images: His visual acuity was <20/400 bilaterally (at age 16), the optic discs showed bilateral pallor (Figure 2), the patient had an absolute central scotoma bilaterally (Figure 3A) and severe dyschromatopsia, the standard electroretinogram was normal, and OCT showed thinning of all RNFL bundles (Figure 4A).
case_images: Optical coherence tomography (OCT) of the retinal nerve fiber layers (RNFLs). A: The right eye (upper) and left eye (lower) OCT of RNFLs for II:1 show global thinning of all RNFLs. B: The right eye (upper) and left eye (lower) OCT of RNFLs for II:3 show temporal thinning of RNFLs in both eyes.
case_images: mv-v18-1849-f4.jpg
case_images: PMC3398502_01_mv-v18-1849-f4.jpg
case_images: f4
case_images: His visual acuity was <20/400 bilaterally (at age 16), the optic discs showed bilateral pallor (Figure 2), the patient had an absolute central scotoma bilaterally (Figure 3A) and severe dyschromatopsia, the standard electroretinogram was normal, and OCT showed thinning of all RNFL bundles (Figure 4A). II:3 showed temporal thinning of RNFL bilaterally (Figure 4B). In contrast with the proband, II:1, for which the disease occurred abruptly and the visual loss was severe and did not progress, the disease progressed slowly in the two siblings.