Kaouther Derouiche

Faculté de médecine de Tunis

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L. El Matri

Tunis El Manar University

Sonia Abdelhak

Tunis El Manar University

Leila Largueche

Hopital Universitaire Hedi Chaker

A. Merdassi

Hôpital Militaire Moulay Ismail

Daniel F. Schorderet

École Polytechnique Fédérale de Lausanne

Francis L. Munier

Hôpital Ophtalmique Jules-Gonin

Farah Ouechtati

Institut de la Vision

Rim Bouraoui

Ibtissem Chouchene

Institute of Ophthalmology

Léonidas Zografos

University of Lausanne

Cooperative Institutions

Tunis University

Tunis El Manar University

Faculté de médecine de Tunis

Hopital Universitaire Hedi Chaker

Institute of Ophthalmology

Institut Pasteur de Tunis

University of Monastir

Institut Pasteur

Hôpital Charles-Nicolle

University of Lausanne

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725 Localisation orbitaire du lymphome de Burkitt dans sa forme sporadique

Journal Français d Ophtalmologie (2005)

Kaouther Derouiche K. Souissi S. Ben Sassi I. Allagui N. Khaldi

10.1016/s0181-5512(05)73842-0

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Case Report: Swept-source Optical Coherence Tomography and Angiography Findings in Lipemia Retinalis

Optometry and Vision Science (2021)

R. Bouraoui Khaled El Matri Kaouther Derouiche Yousra Falfoul C. Amrouche

SIGNIFICANCE Lipemia retinalis is a very rare ocular manifestation of severe hypertriglyceridemia. It is usually symptomatic and regresses after normalization of triglycerides levels. Early recognition is important to prevent ocular and life-threatening complications. PURPOSE This study aimed to report a case of marked lipemia retinalis secondary to type V hypertriglyceridemia assessed with swept-source optical coherence tomography (OCT) and OCT angiography (OCT-A), with follow-up after dietary lipid restriction. METHODS Observational case report of lipemia retinal findings on color fundus photography, swept-source OCT and OCT-A, initially and after triglycerides lowering. CASE REPORT A 32-year-old pregnant patient with gestational diabetes and a history of hypertriglyceridemia was referred for diabetic retinopathy screening. Fundus examination revealed bilateral milky-white discoloration of retinal vessels with a “salmon-colored” retina. Swept-source OCT and OCT-A revealed extremely hyperreflective and dilated retinal vessels and multiple high-flow retinal hyperreflective dots, corresponding to dilated retinal capillaries. Choroidal vessels were enlarged and engorged, and choriocapillaris layer appeared thickened and hyperreflective with dilated and tortuous capillaries. Serum triglycerides were very high (70.02 mmol/L). After 21 days of very-low-fat diet, it was lowered to 15 mmol/L. We noted a normalization of the clinical, structural, and vascular findings. However, peripheral retinal vessels remained hyperreflective, despite their clinical normalization. CONCLUSIONS Swept-source OCT and OCT-A were beneficial in assessing lipemia retinalis noninvasively and monitoring choroidal and retinal vascular changes. Lipemia retinalis signs regressed initially in the posterior pole, choroidal anomalies were first to resolve, and clinical normalization preceded tomographic resolution.

Fundus (uterus)

10.1097/opx.0000000000001830

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Citations (2)

Retinal dystrophy and congenital glaucoma as major causes of vision loss in students attending two institutions for the visually disabled in Tunis city, Tunisia

Journal Français d Ophtalmologie (2014)

Ibtissem Chouchene Kaouther Derouiche Nizar Ben Halim A. Merdassi R. Limaiem

Etiology

Congenital glaucoma

Eye examination

10.1016/j.jfo.2014.03.010

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Citations (3)

Phenotype in Two Consanguineous Tunisian Families With non Syndromic Autosomic Recessive Retinitis Pigmentosa Caused by an USH2A Mutation

Investigative Ophthalmology & Visual Science (2011)

A. Chebil Leila Largueche Fedra Kort Rim Bouraoui Kaouther Derouiche

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Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene

Journal of Human Genetics (2010)

Farah Ouechtati A. Merdassi Yosra Bouyacoub Leila Largueche Kaouther Derouiche

Achromatopsia

Nonsense mutation

Genetic linkage

Color Vision Defects

10.1038/jhg.2010.128

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Citations (18)

Phenotypic Variation in a Family With Stargardt Like Retinal Dystrophy and ABCA4 Mutation

Investigative Ophthalmology & Visual Science (2006)

L. El Matri A. Merdassi F. Mghaieth Rim Bouraoui Leila Largueche

ABCA4

Stargardt disease

Macular dystrophy

Variation (astronomy)

Dystrophy

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Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families

Human Genome Variation (2014)

Manèl Chograni Kaouther Derouiche Myriam Châabouni I. Lariani Habiba Chaabouni Bouhamed

The aim of this study was to identify the genetic defect that is responsible for aniridia and congenital cataracts in two Tunisian families. Sequencing of the PAX6 gene in family F1 detected a novel c.265C>T transition in exon 6. In family F2, the previously described c.718C>T mutation in PAX6 was detected in the four affected members. This study adds new mutation to those previously reported in PAX6, providing further evidence for the genetic and phenotypic heterogeneity in individuals with aniridia ocular malformations. Researchers in Tunisia have discovered a novel genetic mutation responsible for aniridia, the complete or partial absence of the iris. Aniridia is caused by coding faults in a gene called PAX6. Manèl Chograni and her colleagues from the Faculty of Medecine of Tunis's Laboratory of Human Genetics sequenced PAX6 in two unrelated Tunisian families with multiple members affected by aniridia and associated congenital cataracts. One family harbored a dominant mutation in a particular coding region that produced a shortened, defective protein. Independent research groups have documented this same mutation in people with aniridia from otherparts of the world. The second family carried a mutation in PAX6 that also yielded a shortenedprotein. However, this mutation was in a different coding region and had not been described previously in the scientific literature.

Aniridia

PAX6

Coding region

Indel

10.1038/hgv.2014.8

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Citations (7)

[Molecular exploration of the R91W (RPE65 gene) in Tunisian patients with early onset retinal dystrophy and early onset retinitis pigmentosa].

PubMed (2015)

Ibtissem Chouchene Leila Largueche Kaouther Derouiche Sameh Ben Mabrouk Sonia Abdelhak

Inherited retinal dystrophies are the major causes of blindness and visual impairment. Visual loss is due to neurosensory retinal and pigment epithelium cells degeneration. The most severe were Leber Congenital amaurosis (LCA), juvenile retinitis pigmentosa (RP) and early onset RP. The LCA and juvenile RP are called «Early Onset Retinal Dystrophy» (EORD).Molecular exploration of the R91W (RPE65 gene) in Tunisian patients with Early Onset Retinal Dystrophy and early onset RP.All patients underwent a complete ophthalmological and a general examinations. The R91W exploration was performed by direct sequencing of exon 4 of the RPE65 gene and enzyme digestion.Among 47 patients, 13 were from Nabeul. Twenty three had an EROD with a visual loss under the age of 2 years. Twenty four were with early onset RP and had these symptoms between the ages of 4 and 10 years. The best corrected visual acuity ranged from 2/10 to 1/60. Among the explored 94 chromosomes, the R91W (325C>T) allele was identified in heterozygous state in a sibling from Nabeul. The allele frequency was 2.12% (2/94).All our patients had severe forms of RP with a decrease in visual acuity and a wide advanced retinal degeneration. The R91W mutation (325C>T) was not the major cause of EORD and early onset RP among Tunisian patients.

RPE65

Dystrophy

Cis-trans-Isomerases

Compound heterozygosity

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