Phenotypical Aspects of a Familial Syndromic Retinitis Pigmentosa  

作　　者：Irma Eneida Dos Santos Joseph Matar Mass Ndiaye Mariama Diambone Badji Alioune Abdoulaye Ndongo Gerauld Akpo Jean Pierre Diagne Gabriel Karold Mendy Mouhamed Attye Aboubacry Sadikh Sow Elhadji Amadou Ba Paule Aida Ndoye Roth Irma Eneida Dos Santos;Joseph Matar Mass Ndiaye;Mariama Diambone Badji;Alioune Abdoulaye Ndongo;Gerauld Akpo;Jean Pierre Diagne;Gabriel Karold Mendy;Mouhamed Attye;Aboubacry Sadikh Sow;Elhadji Amadou Ba;Paule Aida Ndoye Roth(Ophthalmology Department of Aristide Le Dantec Hospital, Dakar, Senegal;Pediatric Department of Aristide Le Dantec Hospital, Dakar, Senegal;Radiological Imaging Department of Aristide Le Dantec Hospital, Dakar, Senegal;Ophthalmology Department of Abass Ndao Hospital, Dakar, Senegal)

机构地区：[1]Ophthalmology Department of Aristide Le Dantec Hospital, Dakar, Senegal [2]Pediatric Department of Aristide Le Dantec Hospital, Dakar, Senegal [3]Radiological Imaging Department of Aristide Le Dantec Hospital, Dakar, Senegal [4]Ophthalmology Department of Abass Ndao Hospital, Dakar, Senegal

出　　处：《Open Journal of Ophthalmology》2024年第2期168-173,共6页眼科学期刊（英文）

摘　　要：Aim: To report a familial case of syndromic retinitis pigmentosa identified at Aristide Le Dantec Hospital in Dakar and to describe their clinical characteristics ophthalmic. Observation: We report a sibling group of nine children, four died at a young age from unknown causes. Three children were affected by retinitis pigmentosa, two cases were syndromic. A history of nyctalopia was found in all three affected children. The mean age of onset of decreased visual acuity was 6.6 years. Patient 1 affected by syndromic retinitis pigmentosa had an extraocular sign of cystic dilation of the main bile duct. Patient 2 had myoclonic epilepsy, psychomotor retardation, and the molar tooth sign on cerebral MRI (highly suggestive of Joubert syndrome). The third child had isolated retinitis pigmentosa. Ophthalmological examinations (fundus examination, electroretinogram, and visual evoked potentials) and pediatric examinations in the remaining two children were normal. Discussion and Conclusion: Retinitis pigmentosa is a rare degenerative disease that can be associated with several other malformations, highlighting the importance of screening for associated conditions. It presents a grim functional prognosis and a life prognosis dependent on extraocular manifestations. Molecular biology (karyotyping, next-generation sequencing) could have identified the implicated genes and allowed for a formal diagnosis and genetic counseling.Aim: To report a familial case of syndromic retinitis pigmentosa identified at Aristide Le Dantec Hospital in Dakar and to describe their clinical characteristics ophthalmic. Observation: We report a sibling group of nine children, four died at a young age from unknown causes. Three children were affected by retinitis pigmentosa, two cases were syndromic. A history of nyctalopia was found in all three affected children. The mean age of onset of decreased visual acuity was 6.6 years. Patient 1 affected by syndromic retinitis pigmentosa had an extraocular sign of cystic dilation of the main bile duct. Patient 2 had myoclonic epilepsy, psychomotor retardation, and the molar tooth sign on cerebral MRI (highly suggestive of Joubert syndrome). The third child had isolated retinitis pigmentosa. Ophthalmological examinations (fundus examination, electroretinogram, and visual evoked potentials) and pediatric examinations in the remaining two children were normal. Discussion and Conclusion: Retinitis pigmentosa is a rare degenerative disease that can be associated with several other malformations, highlighting the importance of screening for associated conditions. It presents a grim functional prognosis and a life prognosis dependent on extraocular manifestations. Molecular biology (karyotyping, next-generation sequencing) could have identified the implicated genes and allowed for a formal diagnosis and genetic counseling.

关 键 词：Retinitis Pigmentosa SYNDROMIC HEREDITY CILIOPATHY 

分 类 号：R73[医药卫生—肿瘤]