Optical Coherence Tomographic Findings in Berlin’s Edema

Purpose: To describe optical coherence tomography (OCT) findings in a patient with Berlin′s edema following blunt ocular trauma. Case Report: A 26-year-old man presented with acute loss of vision in his left eye following blunt trauma. He underwent a complete ophthalmologic examination and OCT. Fundus examination revealed abnormal yellow discoloration in the macula. OCT disclosed thickening of outer retinal structures and increased reflectivity in the area of photoreceptor outer segments with preservation of inner retinal architecture. Re-examination was conducted one month later at the time which OCT changes resolved leading to a surprisingly normal appearance. Conclusion: OCT can be a useful tool in the diagnosis and follow-up of eyes with Berlin′s edema and may reveal ultrastructural macular changes

Clinical Polymorphism of Stargardt Disease in a Large Consanguineous Tunisian Family; Implications for Nosology

Purpose: To describe the polymorphic expression of Stargardt disease in a large Tunisian family with clinical intra- and interfamilial variation of the condition. Methods: Twelve subjects from two related families with autosomal recessive Stargardt disease were enrolled. A detailed clinical examination including visual acuity and visual field measurement, fundus photography, fluorescein angiography, electroretinography (ERG) and color vision testing was performed for all subjects. Results: The youngest child from family A manifested typical Stargardt disease while her two brothers presented with Stargardt disease-fundus flavimaculatus (STGD-FFM) and her two sisters demonstrated a peculiar phenotype overlapping Stargardt disease and cone-rod dystrophy; their phenotypic manifestation corresponded well with ERG groups I, II and III, respectively. This uncommon occurrence of an age-related decline in ERG amplitude and worsening of fundus changes is suggestive of a grading pattern in Stargardt disease. Their two cousins in family B, displayed the STGD-FFM phenotype. Despite clinically similar STGD-FFM patterns in both families, age of onset and progression of the phenotype in family B differed from family A. Conclusion: This is the first report on phenotypic variation of Stargardt disease in a large Tunisian family. Regarding phenotype and severity of visual symptoms, family A demonstrated Stargardt disease at various stages of progression. In addition, STGDFFM appeared to be an independent clinical entity in family B. These findings imply that further parameters are required to classify Stargardt′s disease

Identification of a Novel Mutation in FOXL2 Gene That Leads to Blepharophimosis Ptosis Epicanthus Inversus and Telecanthus Syndrome in a Tunisian Consanguineous Family

International audienceMutations in FOXL2 gene are responsible for blepharophimosis ptosis epicanthus inversus and telecanthus syndrome (BPES). The BPES syndrome is a rare autosomal dominant genetic disease characterized by eyelid malformations associated with premature ovarian failure (BPES type I) or not (BPES type II). The human FOXL2 protein (376 aa) contains a 100 amino-acid DNA-binding forkhead domain (residues 52-152) and a polyalanine tract (residues 221-234). In the present study, we report the molecular investigation of four affected members with BPES syndrome in a Tunisian consanguineous family. To identify the causative mutation, we performed a direct sequencing of the FOXL2 gene. The sequence analysis of the coding exon revealed a novel frameshift mutation g.1113 dup C, c.876 dup C, p.P292 Fs. The mutation is located downstream of the polyalanine tract and causes the protein extension to 532 aa. This study reports for the first time a novel frameshift mutation in two-generation consanguineous Tunisian family with BPES. Our results expand the spectrum of FOXL2 mutations

Choroidal metastasis from breast cancer in a male patient treated successfully with systemic chemotherapy

ABSTRACT Introduction: To present a case of chemotherapeutic regression of metastasis of breast carcinoma to the choroid in a male patient. Case Report: A 63yearold male, with a past medical history of breast cancer, presented with blurred vision and progressive loss of visual acuity. Fundoscopy of the right eye revealed a choroidal mass in the upper temporal arcade associated with pigment epithelium impairment. Optic disc was normal and macular edema was not present. The patient was treated with systemic chemotherapy (epirubicin, cyclophosphamide, 5fluorouracil), every three weeks, for six cycles. Five months into treatment, the patient reported a partial improvement in visual symptoms. A complete regression of the choroidal mass was noted with both magnetic resonance imaging and fundoscopy. Conclusion: In male as in female patients, breast carcinoma may metastasize to the choroid. Such metastasis must be suspected whenever a patient with a past history of breast cancer suffers from impaired vision. A

Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients.

Usher syndrome (USH) is an autosomal recessive disorder characterized by combined deafness-blindness. It accounts for about 50% of all hereditary deafness blindness cases. Three clinical subtypes (USH1, USH2, and USH3) are described, of which USH1 is the most severe form, characterized by congenital profound deafness, constant vestibular dysfunction, and a prepubertal onset of retinitis pigmentosa. We performed whole exome sequencing in four unrelated Tunisian patients affected by apparently isolated, congenital profound deafness, with reportedly normal ocular fundus examination. Four biallelic mutations were identified in two USH1 genes: a splice acceptor site mutation, c.2283-1G>T, and a novel missense mutation, c.5434G>A (p.Glu1812Lys), in MYO7A, and two previously unreported mutations in USH1G, i.e. a frameshift mutation, c.1195_1196delAG (p.Leu399Alafs*24), and a nonsense mutation, c.52A>T (p.Lys18*). Another ophthalmological examination including optical coherence tomography actually showed the presence of retinitis pigmentosa in all the patients. Our findings provide evidence that USH is under-diagnosed in Tunisian deaf patients. Yet, early diagnosis of USH is of utmost importance because these patients should undergo cochlear implant surgery in early childhood, in anticipation of the visual loss

Pedigrees of the four Tunisian patients analyzed by whole exome sequencing.

<p>Squares and circles denote males and females, respectively. Filled symbols indicate deaf individuals. Arrows indicate the individuals analyzed by WES.</p

Retinal phenotypes of patients with mutations in Usher genes.

<p><b>A</b>, Composite color fundus photograph of the left eye of a four-year-old girl (DF103-III-2) showing diffuse narrowing of the retinal arteries and hyperpigmentation in a bone-spicule configuration in the midperipheral retina. <b>B</b>, B-scan OCT imaging of the same eye showing a mild foveal atrophy (central macular thickness = 160 micrometers). <b>C</b>, Color fundus photograph of the posterior pole of the right eye of a six-year-old boy (DF103-III-1) with early stage retinitis pigmentosa shows no obvious abnormalities which may explain the misdiagnosis of the disease in some cases. <b>D</b>, Color fundus photograph of the peripheral retina showing a “salt and pepper" appearance without the classical bone-spicule pigmentation. <b>E</b>, The fovea has a normal thickness on optical coherence tomography (180 micrometers).</p