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Late Congenital Leber's Amaurosis At sease Di s a e n y d E f D i o s l o a r d n r e u r s o J ISSN: 2684-1622 Journal of Eye Diseases and Disorders Case Report Late Congenital Leber’s Amaurosis at Lubumbashi in the Democratic Republic of Congo: Case Report Yogolelo Asani Bienvenu1*, Kasamba Ilunga Eric2, Luembe Kasongo Daudet1, Iye Ombamba Kayimba Bruno1, Omewatu Mungomba Jacques3, Alfani Binti Lungwe Marie-Ange4, Ngoy Kilangalanga Janvier5. 1Ophthalmology Department of University Clinics of Lubumbashi, Lubumbashi, Democratic Republic of the Congo 2Laboratory service of University Clinics of Lubumbashi, Lubumbashi, Democratic Republic of the Congo 3Anatomopathology Department of University Clinics of Lubumbashi, Lubumbashi, Democratic Republic of the Congo 4Department of English, Higher Pedagogical Institute, Lubumbashi, Democratic Republic of the Congo 5Ophthalmological Center Saint Joseph of Kinshasa, Lubumbashi, Democratic Republic of the Congo ABSTRACT The authors report a case of congenital Leber's amaurosis on convergent strabismus alternates lefteye fixatordiscoveredat a late stage in an 8-year-old male child at University Clinics of Lubumbashi. This observation draws the attention of clinical researchers to the need of good early clinical examination in the presence of retinal dystrophy in children. Keywords: Congenital Leber’s amaurosis, retinal disease, early onset, retinal dystrophy, DR Congo. INTRODUCTION shows a small congenital central cortical opacity in the right eye and in the left eye the anterior and posterior segment are Described in 1869 by Leber, the congenital Leber's amaurosis is without any particularity. On examination of the fundus of both the earliest and most severe form of all hereditary retinal eyes, we noticed a macula with fine whitish punctuations having dystrophies. It is an autosomal recessive disease [1]. Its the brilliant appearance of "snail slime", a dark red macula prevalence is between 1/33000 and 1/50000 live births [2]. It surrounded by greyish retina; papillary pallor and pigmentary accounts for 5% of retinal dystrophies and 20% of causes of deposits scattered in the peripheral retinal field and narrowing blindness among children of school age [3]. At the state stage, of the retinal vessels (Figures 1 and 2). the center of the macula is the site of xanthophyll pigmentation. In the late stage, the macula is the site of chorioretinal atrophy DISCUSSION and a significant remodeling that can be pigmented. It has never been described in the DRC, to our knowledge. Leber congenital amaurosis is a part of the spectrum of early- onset retinal dystrophy. It usually presents in the first few years of PATIENT AND OBSERVATION life, most often before the age of 1 year [4]. Leber congenital amaurosis encompasses a group of severe inherited retinal Results dystrophies responsible for early childhood blindness. There are Male patient, 8 years old, brought to a consultation by his currently 25 genes implicated in the pathogenesis of these mother for weak vision since the age of one year. The visual diseases, and identification of disease-causing variants will be acuity is of finger count to 4 m in the right eye and 5 m in the required for personalised therapies. Whole exome and whole left eye, not improvable by corrective lenses on convergent genome sequencing is informative for detecting novel disease- strabismus alternating left eye fixator. The slit lamp examination causing genes, whilst next-generation sequencing has excelled at *Corresponding author: Yogolelo Asani Bienvenu, Ophthalmology Department of University Clinics of Lubumbashi, Lubumbashi, Democratic Republic of the Congo, Tel: +243814095671; E-mail: [email protected] Received: June 20, 2019; Accepted: June 28, 2019; Published: July 05, 2019 Citation: Bienvenu YA (2019) Late Congenital Leber’s Amaurosis at Lubumbashi in the Democratic Republic of Congo: Case Report. J Eye Dis Disord 4:129 doi:10.35248/2684-1622.19.4.129 Copyright: © 2019 Bienvenu YA, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. J Eye Dis Disord, Vol.4 Iss.1 No:129 1 Bienvenu YA, et al. • Elisa IgG CMV: absence (reference value >35UI/L) • Elisa IgM CMV: absence (reference value < 10UI/L) • Elisa IgG Toxoplasma: 135 (reference value > 150UI/L) • Elisa IgM Toxoplasma: absence (reference value < 15UI/L) • Avidity: absence (reference value < 32UI/L) • Elisa Rubella IgG: absence (reference value < 20UI/L) CONCLUSION Congenital Leber's amaurosis is an inherited congenital retinal Figure 1: Right Eye Retinography dystrophy, which leads to low vision or blindness in the first year of life. It can be diagnosed at a late stage of the disease after a well-done clinical examination. In our study, we found that our patient had difficulty to recognise red color as well as green; this is the finding made by Mäntyjärvi and al, where the defect of the red color became stronger at the advanced stage of the disease. ETHICAL ASPECTS A patient’s parent offered a verbal informed consent to this publication and we preserved his anonymity. The Ethics Committee of the University of Lubumbashi endorsed this study. In a study done in Pakistan in 2008 by Shah and al, it shows that patients with Stargardt's disease respond well to magnification (magnifying glass). Thus, simple bifocal glasses can be used at the first stage of the disease, such is the Figure 2: Left Eye Retinography management that we proposed to our patient. detecting novel variants in known disease-causing genes.A global DECLARATION OF INTERESTS effort will be required to identify patient populations for early intervention[4]. Retinal blindness is an important cause of The authors declare that they have no conflict of interest in pediatric visual loss. Leber's congenital amaurosis is one of these relation to this article. causes, often wrongly included in the spectrum of retinitis pigmentosa. The disease has become the center of research after REFERENCES initial reports of success in management with gene therapy [5]. 1. Urvoy M, The Marec B. Ophtalmologie de l’enfant. Ed. DGDL, The examination at the slit lamp was normal. The ocular Paris, 1982. tension taken with the applanation tonometer was 17 mm Hg. 2. De LaageMeux P. Pediatric Ophthalmology. Masson, Paris, 2003. The color vision tested with the Ishihara Test showed a red- 3. Denis D, Bui Quoc E, Aziz-Alessi A. Pediatric Ophthalmology. green axis disorder. Fundus images taken with a retinograph Elsevier Masson, Paris, SFO Report 2017. show the appearance of themacula insnail slime with 4. Tsang, Sharma. Leber Congenital Amaurosis. Adv Exp Med Biol. pigmentary remodelling and the presence of flavimaculate spots 2018; 1085: 131-137 at the posterior pole of both eyes. Boys are the most affected 5. Thompson JA, De Roach JN, McLaren, Lamey TM. Leber (85% of cases) that is the case of our patient; Optic disc pallor Congenital Amaurosis: Identification of Disease-Causing Variants and peripheral pigment retinitis, macular dysplasia, punctate and Personalised Therapies. Adv Exp Med Biol. 2018; 1074: retinitis, arterial strictures, hyperopia and cataract can be 265-271. observed (our case), enophthalmos and keratoconus may be 6. Takkar B, Bansal P, Venkatesh P. Leber's Congenital Amaurosis associated. The discovery of the pathology at a late stage is rare in and Gene Therapy. Indian J Pediatr. 2018; 85(3): 237-242. the literature [7]. 7. Goddé Jolly D, Dufier JL. Pediatric Ophthalmology. Masson, Paris, 2003. 190-194. We excluded TORCHE syndrome through the laboratory tests below: J Eye Dis Disord, Vol.4 Iss.1 No:129 2.
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