Prevalence of Glu323Lys Mutation of the TIGR/MYOC Gene and Risk Factors amongst Primary Open-angle Glaucoma Patients in Ouagadougou, Burkina Faso.

Aim: Glaucoma is a group of degenerative diseases of the optic nerve whose predisposing factors may be genetic. The objective of this study was to estimate the frequency of the Glu323Lys mutation as a genetic risk factor for glaucoma. Materials and methods: A cross-sectional study over 6 months from October 2020 to March 2021 in Ouagadougou, Burkina Faso. A total of 89 samples of patients with primary open-angle glaucoma (POAG) were collected. The frequency of the Glu323Lys mutation of the myocilin, trabecular meshwork inducible glucocorticoid response (TIGR/MYOC) gene by polymerase chain reaction (PCR)-restriction fragment length polymorphism. Results: In glaucoma patients, only homozygous nonmutated guanine-guanine (GG) and heterozygous mutated adenine-guanine (AG) genotypes were found in 96.63 and 3.37% of cases, respectively. Around 69.66% of patients had a family history of glaucoma, 28.09% had a history of hypertension, and 7.86% had a history of diabetes. Conclusion: The frequency of the Glu323Lys mutation of the TIGR/MYOC gene was 3.37% in the glaucoma population in Ouagadougou. A case-control study is necessary to know the contribution of the Glu323Lys mutation as a genetic risk factor for glaucoma in our study population. Clinical significance: This study constituted the beginning of genetic investigations of glaucoma in our context and showed a low Glu323Lys mutation. How to cite this article: Traoré L, Sanou J, Bakyono BS, et al. Prevalence of Glu323Lys Mutation of the TIGR/MYOC Gene and Risk Factors amongst Primary Open-angle Glaucoma Patients in Ouagadougou, Burkina Faso. J Curr Glaucoma Pract 2023;17(2):79-84.

Prenatal Exophthalmia Revealing a Postnatal Orbital Teratoma.

PURPOSE: Teratomas are congenital tumors of stem cells derived from the three germ layers. They are frequently located in the sacrococcygeal region. Orbital teratoma is rare with less than 70 cases reported until 2016. We report the case of prenatal exophthalmia discovered by ultrasound exam which turned out to be a teratoma postnatally. The newborn in our case was female, just as described in the literature. Treatment consisted of total removal of the teratoma and the eyeball. Reconstructive surgery remains a big challenge since our medical technology is limited. CONCLUSION: A prenatal exophthalmia on fetal ultrasound should make us think of a teratoma, even if it is very rare. Fetal orbital teratoma may be associated with fetal survival. The infant will benefit from a reconstructive surgery of the orbit.

[Epidemio-clinical features of retinoblastoma at the Yalgado Ouedraogo University Hospital Center in Burkina Faso: about 32 cases]. / Caractéristiques épidémio-cliniques du rétino blastome au Centre Hospitalier Universitaire Yalgado Ouedraogo du Burkina Faso: à propos de 32 cas.

Retinoblastoma is the most common intraocular cancer of childhood. Its estimated incidence is 1 case per 15 000 to 18 000 births. The purpose of this study is to highlight the epidemiological and clinical features of this disease as well as its management in Burkina Faso. We conducted a retrospective study over a period of 5 years at the Yalgado Ouedraogo University Hospital Center. The average age of patients was 33 months, with predominance of male sex (68.75%). Exophthalmia was the most frequent reason for consultation (59.37%). The predominant pattern was unilateral (75%) associated with eye protrusion (59.38%). Chemotherapy associated with surgery was the treatment of choice, with a 5-year survival rate of 34.37%. Retinoblastoma is one of the most common cancers in children younger than 5 years. In our low-income country this disease is diagnosed late. Patients´ management is complex and is commonly associated with poor prognosis. Mortality and morbidity from this disease are disproportionate in our country facing a shortage of technical equipment. In our low-income country, patient´s management should be based on early detection of the disease as well as on adequate treatment.

Neurofibrome plexiforme orbito-palpebral dans la maladie de recklinghausen: à propos de 8 cas

Introduction : La localisation orbito-palpéral du neurofibrome plexiforme dans la maladie de Von Recklinghausen est rare. Nous en rapportons 8 cas. Patients et Méthode : Il s'agissait d'une étude rétrospective descriptive portant sur les dossiers de patients chez qui un diagnostic clinique et paraclinique de neurofibrome plexiforme palpébro-orbitaire était posé et pris en charge dans les services de Dermatologie-Vénérologie, d'Ophtalmologie et de Neurochirurgie du Centre Hospitalier Universitaire Yalgado Ouédraogo de 2005 à 2018. Résultats : Caracté-ristiques épidémiologiques : huit dossiers étaient colligés. Cinq patients étaient de sexe féminin et 3 de sexe masculin. Leur âge moyen était de 15,8 ans. Caractéristiques cliniques : Les atteintes cutanées de la maladie de Von Recklinghausen étaient des taches café au lait, des neurofibromes dermiques, le neurofibrome plexiforme orbito-palpébral unilatéral. L'examenophtalmologique retrouvait une gêne oculaire chez tous les patients, un ptosis, et une exophtalmie chez 2 patients. Un patient présentait un glaucome congénital. Trois patients présen-taient des nodules de Lisch, et un, une périsclérite. Une kérato-uvéite était retrouvée chez deux autres patients. Caractéristiques paracliniques : La tomodensitométrie montrait une atteinte osseuse (sphénoïdal et ou eth-moïdal, et ou du sinus maxillaire) chez tous les patients. L'IRM objectivait la tumeur plexiforme non encapsulé, infiltrant le tissu adipeux intra et extra conal, sans lésion du parenchyme cérébral. L'étude histologique confirmait le diagnostic de névrome plexiforme. Caractéristiques thérapeutiques et évolutives : La prise en charge était multidisciplinaire avec une exérèse chirurgicale à but fonctionnel et esthétique. L'évolution était favorable à court terme chez tous les patients. Une récidive chez un patient a nécessité une reprise chirurgicale qui s'est soldée par une rétraction de la fente palpé-brale, un ptérigion, un symblépharon, une kérato-uvéite et une chéloïde de l'angle extern

Malignant melanoma of the nasal septum, a rare tumor, occurring in a 54-year-old patient after hereditary retinoblastoma treatment.

The authors report a case of a malignant melanoma of the nasal cavity that is a rare tumor and very aggressive, constituting 1% of all melanomas. It appeared in a patient 54 years after he was treated for a hereditary retinoblastoma. Its symptoms are nonspecific, and often marked by epistaxis. Its diagnosis is histological, supported by immunohistochemistry. Its prognosis is often unfavorable, and characterized by the occurrence of metastases and recurrences. Because of the risk of secondary cancer that exists in any survivor of hereditary retinoblastoma, we must think of possible mucosal melanoma of the nasal sinus in these patients in cases of chronic epistaxis. The prognosis of this tumor depends on its early diagnosis and surgical treatment.