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2.
Bull Soc Pathol Exot ; 103(4): 238-42, 2010 Oct.
Article in French | MEDLINE | ID: mdl-20596809

ABSTRACT

Demodicidosis is an ectoparasitosis, common to humans and many mammals. It is caused by the proliferation of a mite Demodex sp in the pilosebaceous follicles. Its pathogenic role remains controversial. The aim of our study was to report epidemiological and clinical particularities of cases of demodicidosis diagnosed in our region. Over a period of nine years (January 2000 to December 2008), 427 cases of demodicidosis were diagnosed. 73.2% of cases were blepharitis and 26.8% of cases were facial dermatosis. The mean age was 44 years. Women were slightly more affected (56%) than men. Among 787 chronic blepharitis, 243 cases were due to Demodex sp (30.9%). They were treated with yellow oxide of mercury (Ophtergine® 1%). In the face, this mite has been isolated from erythematous and pruritic papulopustular lesions, and their distribution was as follows: cheeks (22.1%), forehead (13.4%), and nose (11.5%). The diagnosis was confirmed by parasitological examination of scales showing more than 5 Demodex sp/cm(2) and response to treatment with metronidazole (Flagyl®) for three months. Currently, there were a large number of arguments for the incrimination of Demodex sp in pathogenesis of dermatosis and blepharitis. Dermatologists and ophthalmologists must therefore think to this mite. The density of Demodex sp found by parasitological exam is a determining factor in establishing an anti-Demodex treatment whose effectiveness is a further argument for the diagnosis.


Subject(s)
Mite Infestations/diagnosis , Adolescent , Adult , Aged , Animals , Antiprotozoal Agents/therapeutic use , Blepharitis/parasitology , Child , Ear/parasitology , Female , Forehead/parasitology , Humans , Male , Metronidazole/therapeutic use , Middle Aged , Mite Infestations/drug therapy , Mites , Nose/parasitology , Tunisia
3.
J Fr Ophtalmol ; 32(2): 98-103, 2009 Feb.
Article in French | MEDLINE | ID: mdl-19515322

ABSTRACT

INTRODUCTION: Vitreous hemorrhage is a frequent complication of proliferated diabetic retinopathy. Vitrectomy has vastly improved its prognosis. The purpose of this study was to evaluate the use of silicone oil in vitreal surgery in this indication. METHODS: We present a retrospective study of 15 eyes that underwent vitrectomy and silicone oil injection for vitreal hemorrhage complicating proliferative diabetic retinopathy. For each patient, we noted the clinical and echographic features, the surgical procedure, and the postoperative outcome after a mean period of 20 months. RESULTS: The indications for silicone injection were recurrent vitreal hemorrhage (seven eyes), aggressive fibrovascular proliferations (five eyes), and iatrogenic retinal breaks (three eyes). Anatomic success was noted in ten cases. Four patients had a hemorrhage reoccurrence after silicone oil removal and one patient developed neovascular glaucoma. Silicone cataract (seven eyes) and emulsification of silicone (one eye) were noted. DISCUSSION: The use of silicone oil in vitreal surgery for complicated proliferated diabetic retinopathy contributes a hemostatic and plugging effect, but it still has a number of disadvantages such as the need to remove it and its own side effects. It can be beneficial in cases of rubeosis or recurrent hemorrhage. However, it is essentially indicated in recurrent hemorrhage in monophthalmos patients.


Subject(s)
Diabetic Retinopathy/complications , Hemostatic Techniques , Silicone Oils/administration & dosage , Vitreous Hemorrhage/etiology , Vitreous Hemorrhage/therapy , Adult , Female , Humans , Male , Middle Aged , Retrospective Studies
4.
Rev Med Interne ; 30(6): 486-91, 2009 Jun.
Article in French | MEDLINE | ID: mdl-19375828

ABSTRACT

INTRODUCTION: The objective of this study was to analyse the incidence and the main characteristics of optic neuropathy in Behçet's disease. METHODS: A retrospective review of a well-documented population of 376 Tunisian patients with Behçet's disease was performed. All patients fulfilled three or more criteria defined by the International Study Group for Behçet's Disease. The diagnosis of optic neuropathy was based on the clinical examination, visual field, visual evoked potentials and retinal angiography. RESULTS: Eighteen patients (4.7 %) presented an optic nerve involvement. The mean age at presentation of these patients (10 men and nine women) was 39.11+/-12.9 years (range 17 to 73). The mean vision at presentation was 4.2/10+/-2.9, the vision was less than 1/10 in 34.5 % of eyes. The optic neuropathy was anterior in 89 % cases (26 eyes, 90 %), posterior in one case (2 eyes, 7 %); one patient (1 eye, 3 %) presented an optic atrophy. The optic neuropathy was associated with other ocular lesions in 13 cases (72.2 %). It was an inflammatory neuropathy in four cases (22.3 %) and a stasis papilledema complicating a benign intracranial hypertension in five cases (27.8 %). Corticosteroids were administrated in 17 cases (94.4 %), cyclophosphamide in six cases (33.3 %) and anticoagulant therapy in one patient (5.6 %). After a mean duration of 79 months (range: three months to 12 years), a third of the patients (8 eyes, 27.5 %) have a visual loss. CONCLUSION: Optic neuropathy is a rare ocular involvement in Behçet's disease. It can be related to an inflammatory neuropathy, a stasis papilledema complicating a benign intracranial hypertension or an ischemic neuropathy. The association of optic neuropathy with other ocular lesions could be responsible for a diagnostic delay. Its treatment relies on systemic corticosteroids and immunosuppressive drugs. The prognosis remained poor, with a third of the patients having lost their sight.


Subject(s)
Behcet Syndrome/complications , Optic Neuropathy, Ischemic/etiology , Adolescent , Adrenal Cortex Hormones/therapeutic use , Adult , Aged , Behcet Syndrome/drug therapy , Blindness/etiology , Female , Humans , Immunosuppressive Agents/therapeutic use , Male , Middle Aged , Optic Neuropathy, Ischemic/drug therapy , Retrospective Studies , Young Adult
5.
Transplant Proc ; 39(8): 2609-11, 2007 Oct.
Article in English | MEDLINE | ID: mdl-17954190

ABSTRACT

OBJECTIVE: The aim of this study was to evaluate the frequency and main risk factors for corneal graft rejection. PATIENTS AND METHODS: This retrospective study included 285 eyes in 256 patients who underwent a penetrating keratoplasty (KPT) from January 1995 to December 2004. The minimum follow-up was 12 months to evaluate graft evolution. Except for complications, the follow-up was weekly, then monthly for 6 months, and ultimately quarterly during the first year. Thereafter the follow-up was performed semi-annually. Patients were informed about the functional signs for which they have to urgently consult. RESULTS: Immunologic rejection of the corneal graft occurred in 128 KPT in 112 patients (rejection frequency = 41%). The identified main risk factors were new vascularization of the recipient cornea over 2 or more quadrants, corneal opacity due to an infectious origin, posttraumatic corneal opacity or congenital glaucoma, graft diameter >8 mm, and therapeutic KPT. CONCLUSIONS: Rejection of the corneal graft is the primary cause of KPT failure. One out of 2 graft failures was due to rejection. Two criteria are unanimously recognized as risk factors for rejection: neovascularization of recipient cornea and antecedents of corneal rejection. The rejection must be treated early to not endanger graft success, which imposes a close follow-up for grafted patients.


Subject(s)
Corneal Transplantation/immunology , Graft Rejection/epidemiology , Adolescent , Adult , Aged, 80 and over , Child , Child, Preschool , Female , Humans , Infant , Keratoplasty, Penetrating , Male , Middle Aged , Retrospective Studies , Risk Factors
6.
Bull Soc Pathol Exot ; 100(1): 41-2, 2007 Feb.
Article in French | MEDLINE | ID: mdl-17402694

ABSTRACT

Acanthamoeba keratitis is a rare but severe corneal infection which, despite improvements in diagnosis and treatment, still culminates in prolonged morbidity and significant loss of visual acuity. We present the case report of the first identification of Acanthamoeba as a causative agent of keratitis in Tunisia. Case no 1: A 20-year-old girl, nearsighted corrected with soft contact lenses, suffering from a deep corneal inflammation and poor visual acuity The ophthalmological examination showed bilateral dendritiform epithelial keratitis. The illness did not respond to topical and general antibiotic treatment and developed bilateral corneal abscess. Microscopic examination and culture of samples from cornea scraping revealed the presence of trophozoit and cysts of Acanthamoeba associated with Fusarium oxysporum. As the treatment with local Ketoconazol and antibiotherapy didn't show any result, two transfixiant keratoplasty were carried out and treatment by Désomédine, PHMB (polyhexamethylene biguanide) and Voriconazol was started. After two months, the patient felt better, vision was also improved (2/10) and infiltrates became smaller Case no 2: A 19-year-old girl, nearsighted with soft contact lenses consulted for a bilateral corneal ulceration and poor vision (1/20). Trophozoit and cysts of Acanthamoeba were found in the contact lens solution. She was treated quickly with Désomédine. Visual acuity improved to 7/10 but the corneal ulceration left a residual opacity


Subject(s)
Acanthamoeba Keratitis/pathology , Acanthamoeba/isolation & purification , Eye Infections, Fungal/pathology , Fusarium/isolation & purification , Acanthamoeba Keratitis/complications , Acanthamoeba Keratitis/drug therapy , Acanthamoeba Keratitis/epidemiology , Acanthamoeba Keratitis/surgery , Adult , Amebicides/supply & distribution , Animals , Antifungal Agents/therapeutic use , Benzamidines/therapeutic use , Biguanides/therapeutic use , Contact Lenses, Hydrophilic , Drug Therapy, Combination , Eye Infections, Fungal/complications , Eye Infections, Fungal/drug therapy , Eye Infections, Fungal/epidemiology , Eye Infections, Fungal/surgery , Female , Humans , Keratoplasty, Penetrating , Ketoconazole/therapeutic use , Pyrimidines/therapeutic use , Triazoles/therapeutic use , Tunisia/epidemiology , Voriconazole
7.
J Fr Ophtalmol ; 29(3): 302-6, 2006 Mar.
Article in French | MEDLINE | ID: mdl-16557175

ABSTRACT

AIM: To report two cases of Vogt-Koyanagi-Harada syndrome (VKH) complicated by subretinal neovascularization. CASE REPORTS: The first patient was a 12-year-old girl in whom choroidal neovascularization occurred after VKH had evolved for 9 months. Fundus examination of the left eye revealed a macular extrafoveolar superior serous retinal detachment (SRD) centered by a grey-white pseudo-tumoral zone. A crown of exudates lined the SRD. Pigment epithelium impairment was substantial. Fluorescein angiography showed an early intensive and diffuse staining in the left eye corresponding to a neovascular membrane associated with a late impregnation of the SRD. Green monochromatic laser photocoagulation was considered but refused by the parents. The second patient was an 18-year-old girl followed up for VKH for 2 years. Ophthalmoscopy showed a serous retinal detachment with hemorrhage and hard exudates in the right eye. Fluorescein angiography showed early staining in the juxtapapillary region corresponding to a juxtapapillary neovascular membrane. High-dose systemic corticotherapy was instituted. Photocoagulation was not indicated because of the juxtapapillary topography of the neovascular membrane. CONCLUSION: VKH is a bilateral panuveitis that can be complicated by subretinal neovascularization in 2.5%-10% of cases. This complication must be diagnosed early. We discuss angiogenic factors and therapeutic modalities.


Subject(s)
Retinal Neovascularization/etiology , Uveomeningoencephalitic Syndrome/complications , Adolescent , Child , Female , Humans
8.
J Fr Ophtalmol ; 28(7): 765-8, 2005 Sep.
Article in French | MEDLINE | ID: mdl-16208228

ABSTRACT

INTRODUCTION: Phtiriasis palperarum is an unusual cause of blepharitis. This ectoparasitic infestation of the lashes is more frequent in adult; a pubic attack is usually associated. It is however rare in children. The goal of our study is to bring back four observations of infantile phtiriasis palpebrarum. PATIENTS AND METHODS: Four children presented themselves for palpebral itching and ocular redness. Slit lamp examination revealed evidence of small parasites attached to the proximal extreme of the eyelashes. A survey within the family was carried out and parasitological examination was realized. RESULTS: Parasitological examination had identified adult forms and nits of phtirus pubis. The bed linen was the way of contamination. Mechanical extraction of the parasite was tried but was very painful. Two patients were treated with a regimen of 1% yellow oxide of mercury ointment four times daily for 14 days, the two others was treated by Vaseline pomade because of a very important palpebral irritation. Evolution was favorable among all patients. DISCUSSION: We discuss in this work the ways of contamination of phtiriasis palpebrarum in children. In fact, eyelashes contamination in children is secondary to a contact with an adult carrier of a pubic phtiriasis. The transmission can be done following sexual maltreatments or by the means of infected clothing or bed linen. The diagnosis of phtiriasis palpebrarum is clinical confirmed by parasitological examination. Different therapeutic were proposed, the mechanical treatment must be carried out but it is seldom sufficient and it is often necessary to associate a chemical treatment (malathion to 1%, mercury oxide with 1%, fluorescein with 20%...) or physical treatment (cryotherapy, laser argon). CONCLUSION: Diagnosis of phtiriasis palpebrarum is easy and requires the detection of the source of contamination in order to prevent reinfestations.


Subject(s)
Blepharitis/parasitology , Eyelashes , Lice Infestations/diagnosis , Lice Infestations/drug therapy , Phthirus , Animals , Child , Child, Preschool , Female , Humans , Male
9.
J Fr Ophtalmol ; 27(4): 353-6, 2004 Apr.
Article in French | MEDLINE | ID: mdl-15173641

ABSTRACT

PURPOSE: Analysis of the epidemiological, clinical and therapeutic characteristics of retinal detachment after ocular blunt trauma. MATERIAL AND METHODS: We retrospectively reviewed 48 patients with isolated retinal detachment after ocular blunt trauma, studying their epidemiological characteristics (age, sex and trauma circumstances), their clinic details and the surgical techniques used. RESULTS: The average age of our patients was 39.3 Years; most were male (75%). Assault and home accidents were the most common cause of ocular trauma (83.2%). Total retinal detachment was noted in 47.9%. Of the retinal breaks found, dialysis at the ora serrata was observed in 22%, atrophic holes in 33.9%, retinal breaks in 40.6% and giant tears in 4.2%. Most of the breaks were situated at the lower temporal quadrant. Forty one out of the 48 patients were operated on, with surgical treatment consisting in episcleral surgery in 38 cases and vitreoretinal surgery in three cases. Complete anatomical success was achieved in 92.7%. CONCLUSION: This survey shows that the prognosis of retinal detachment after ocular blunt trauma remains favorable given the young age and the absence of advanced vitreoretinal proliferation, but this should not affect the importance of prevention.


Subject(s)
Retinal Detachment/epidemiology , Accidents, Home , Adult , Eye Injuries/complications , Female , Humans , Male , Retinal Detachment/etiology , Retinal Detachment/surgery , Retinal Detachment/therapy , Retrospective Studies
10.
J Fr Ophtalmol ; 25(1): 52-5, 2002 Jan.
Article in French | MEDLINE | ID: mdl-11965119

ABSTRACT

Purtscher-like retinopathy is a retinopathy with vascular manifestations resembling Purtscher's retinopathy associated with autoimmune disorders such as lupus erythematosus. We report two cases of blurred vision associated with multiple whitish patches scattered over the macular and peripapillary areas. In the absence of trauma, these symptoms led us to systemic lupus erythematosus. The diagnosis was confirmed by the immunological and biological examinations. A steroid treatment was given with poor visual response. Purtscher-like retinopathy is a rare complication of systemic lupus erythematosus and there is some controversy about its pathogenesis and its treatment.


Subject(s)
Lupus Erythematosus, Systemic/complications , Retinal Artery Occlusion/etiology , Retinal Hemorrhage/etiology , Adult , Female , Humans
11.
Tunis Med ; 79(3): 157-60, 2001 Mar.
Article in French | MEDLINE | ID: mdl-11471444

ABSTRACT

UNLABELLED: To demonstrate advantages of using subconjunctival injections of clindamycin in the treatment of toxoplasmic retinchoroiditis. METHODS: A prospective study was conducted in 13 patients with unilateral toxoplasmic retinochoroiditis. All cases were treated with subconjunctival injections of clindamycin in association with general corticosteroïds. Mean follow-up was 7.6 months. RESULTS: Subjective improvement of the visual acuity was obtained in 67% during the first week. Cicatrization was obtained in 1.4 months on average. Recurrences were developed in 15% of cases. Clindamycin did not produce any general side effects, however a conjunctival inflammation and keratitis were observed in one case caused by an error in concentration of clindamycin. Subconjunctival injections of clindamycin provide an interesting alternative in the choice of antitoxoplasmic ocular therapy.


Subject(s)
Chorioretinitis/drug therapy , Chorioretinitis/etiology , Clindamycin/administration & dosage , Clindamycin/pharmacology , Toxoplasmosis, Ocular/complications , Toxoplasmosis, Ocular/drug therapy , Adolescent , Adult , Cicatrix , Conjunctiva , Female , Humans , Inflammation , Keratitis/etiology , Male , Middle Aged , Prospective Studies , Recurrence , Treatment Outcome
12.
Bull Soc Pathol Exot ; 94(1): 11-3, 2001 Mar.
Article in French | MEDLINE | ID: mdl-11346972

ABSTRACT

Parasitical and fungal ophthalmic infections are polymorphic and variably severe. They are rarely reported in publications. The aim of our study has been to specify the parasitic and fungal agents isolated from the ocular samples in our district (Sfax-Tunisia). We surveyed retrospectively the different ocular parasitosis and mycosis diagnosed in our laboratory (Sfax hospital) over a 4 year-period (1996-1999). Fungal ophthalmic infections were dominated by corneal localisations: 20 cases of keratomycosis secondary to: Fusarium solani (8 cases), Aspergillus fumigatus (3 cases); Aspergillus flavus (2 cases); Alternaria sp (2 cases), Candida albicans (2 cases); Fusarium dimerium (1 case); Fusarium oxysporum (1 case) and Scedosporium sp (1 case). A prolonged treatment by ketoconazole had a successful resolution in 70% of cases; 1 case of ciliar tinea caused by Trichophyton violaceum. Parasitic agents were dominated by Demodex folliculorum (32 cases), Phthirius inguinalis (6 cases) and Oestrus ovis (2 cases). Two cases of orbital hydatidosis and 2 cases of palpebral cutaneous leishmania were noted; 21 cases of ocular toxoplasmosis were treated by clindamycine. Our survey concerned not only cosmopolite parasitosis and fungi, but also some affections endemic to our district (hydatidosis and leishmaniasis) with manifestations in isolated ophthalmic localisation. Our research has underscored the need to specify types of infection by way of adequate sampling so as to treat early and then improve prognosis.


Subject(s)
Eye Infections, Fungal/diagnosis , Eye Infections, Parasitic/diagnosis , Adolescent , Adult , Alternaria/isolation & purification , Animals , Aspergillus/isolation & purification , Candida albicans/isolation & purification , Eye Infections, Fungal/drug therapy , Eye Infections, Fungal/epidemiology , Eye Infections, Parasitic/drug therapy , Eye Infections, Parasitic/epidemiology , Female , Fusarium/isolation & purification , Hospitals, University , Humans , Ketoconazole/therapeutic use , Leishmania major , Male , Middle Aged , Tinea/diagnosis , Tinea/epidemiology , Toxoplasmosis, Ocular/diagnosis , Toxoplasmosis, Ocular/epidemiology , Trichophyton , Tunisia/epidemiology
13.
Tunis Med ; 78(10): 580-3, 2000 Oct.
Article in French | MEDLINE | ID: mdl-11190742

ABSTRACT

Ocular traumatisms represent an important cause of morbidity in children. They expose to a major risk of amblyopia. This retrospective study is about 136 children aged of 1 to 15 years, admitted to the hospital of HABIB BOURGUIBA SFAX between 1992 and 1998 for ocular traumatism. Sex ratio was 2.77. The domestic accident represented the most frequent circumstance(45.59%). Ocular traumatism are primarily caused in our cases by projection of stones (33.09%). Perforation was twice more frequent than contusions. Anterior segment lesions were dominated by corneoscleral wounds(61.03%). Vitreous hemorrhage was the most frequent lesion of the posterior segment (9.56%) We found palpebral wound without lesion of lacrimal tract in four cases. The recourse to surgery treatment was imperative in 2/3 of cases. A healing was noted in 20.59% of cases, but the prognostic was always bad because 55.88% of children had a visual acuity less than 1/10 and 10% had a phtisis of the ocular globe. The functional consequences and the esthetic prejudice emphasize the importance of the prevention.


Subject(s)
Eye Injuries/epidemiology , Eye Injuries/etiology , Adolescent , Age Distribution , Amblyopia/etiology , Child , Child, Preschool , Eye Injuries/therapy , Humans , Infant , Morbidity , Prognosis , Retrospective Studies , Risk Factors , Sex Distribution , Treatment Outcome , Tunisia/epidemiology , Visual Acuity
14.
J Fr Ophtalmol ; 22(5): 566-70, 1999 May.
Article in French | MEDLINE | ID: mdl-10417918

ABSTRACT

BACKGROUND: We report a case of non-Hodgkin's malignant lymphoma of the cervicofacial region revealed by unilateral exophthalmos and blindness, an unusual mode of expression. CASE REPORT: A 40-year-old man with a 4-month history of diabetes mellitus had suffered from exophthalmos and blindness of the right eye for 20 years. Physical examination showed a homolateral hemifacial tumefaction and ophthalmoplegia. The right ocular fundus showed papillar edema and non-proliferative diabetic retinopathy. The left eye was normal. The otolaryngology explorations revealed a voluminous tumor in the anterior nasal cavity and in the cavum. Two biopsies were performed. Histology reported non-Hodgkin's T-cell lymphoma. Orbitocerebral and cervicofacial computed tomography visualized the aggressive ethmoidomaxillary extension with intraorbital and intracranial involvement. Chemotherapy (CHOP) combined with radiotherapy led to tumor regression and involution of the exophthalmos. Diagnostic difficulties, management and prognosis are discussed.


Subject(s)
Blindness/etiology , Ethmoid Sinus/pathology , Exophthalmos/etiology , Lymphoma, T-Cell/complications , Maxillary Sinus Neoplasms/pathology , Paranasal Sinus Neoplasms/complications , Adult , Antibiotics, Antineoplastic/administration & dosage , Antineoplastic Agents, Alkylating/administration & dosage , Antineoplastic Agents, Hormonal/administration & dosage , Antineoplastic Agents, Phytogenic/administration & dosage , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Cyclophosphamide/administration & dosage , Cyclophosphamide/therapeutic use , Diabetic Retinopathy/complications , Doxorubicin/administration & dosage , Doxorubicin/therapeutic use , Humans , Male , Neoplasm Invasiveness , Nose Neoplasms/complications , Orbital Neoplasms/complications , Prednisone/administration & dosage , Prednisone/therapeutic use , Vincristine/administration & dosage , Vincristine/therapeutic use
15.
J Fr Ophtalmol ; 22(3): 329-34, 1999 Apr.
Article in French | MEDLINE | ID: mdl-10337589

ABSTRACT

Orbital hydatidosis is uncommon, accounting for 1 to 2% of all localizations. It is caused by Echinococcus granulosis, a dog parasite tapeworm. We report an intra-orbital hydatid cyst observed in a five-year-old boy, presenting the main features of this unusual localization. Hydatid cyst should be evoked in case of tumorous exophthalmia in young patients, especially in children having lived in endemic zones. The preoperative diagnosis is based on clinical findings and ultrasonographic, computed tomographic and magnetic resonance imaging findings. The fronto-orbital approach is most commonly used for treatment. Infectious and functional prognosis depends on early surgery.


Subject(s)
Echinococcosis/diagnostic imaging , Eye Infections, Parasitic/diagnostic imaging , Orbital Diseases/diagnostic imaging , Animals , Child, Preschool , Dogs , Echinococcosis/parasitology , Echinococcosis/surgery , Exophthalmos/parasitology , Eye Infections, Parasitic/parasitology , Eye Infections, Parasitic/surgery , Humans , Magnetic Resonance Imaging , Male , Orbital Diseases/surgery , Prognosis , Tomography, X-Ray Computed , Tunisia
16.
Eur J Hum Genet ; 7(3): 363-7, 1999 Apr.
Article in English | MEDLINE | ID: mdl-10234513

ABSTRACT

Usher type II syndrome is defined by the association of retinitis pigmentosa, appearing in the late second to early third decade of life, with congenital moderate to severe non-progressive hearing loss. This double sensory impairment is not accompanied by vestibular dysfunction. To date, only one Usher type II locus, USH2A, at chromosome band 1q41, has been defined. Here, we demonstrate by linkage analysis, that the gene responsible for Usher type II syndrome in a Tunisian consanguineous family maps to chromosome 3 at position p23-24.2, thus providing definitive evidence for the genetic heterogeneity of the syndrome. A maximum lod score of 4.3 was obtained with the polymorphic microsatellite markers corresponding to loci D3S1578, D3S3647 and D3S3658. This maps the gene underlying USH2B to a chromosomal region which overlaps the interval defined for the non-syndromic sensorineural recessive deafness DFNB6, raising the possibility that a single gene underlies both defects. However, the audiometric features in the patients affected by USH2B and DFNB6 are very different.


Subject(s)
Abnormalities, Multiple/genetics , Chromosomes, Human, Pair 3 , Hearing Loss, Sensorineural/genetics , Retinitis Pigmentosa/genetics , Chromosome Mapping , Female , Genetic Linkage , Hearing Loss, Sensorineural/congenital , Hearing Loss, Sensorineural/physiopathology , Humans , Male , Pedigree , Retinitis Pigmentosa/physiopathology
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