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E I Traboulsi

Publications and source records attributed to E I Traboulsi.

At least 19 recordsLinked to original sources
PubMed2006

Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28.

We have defined a new genetic locus for an X linked form of retinitis pigmentosa (RP) on chromosome Xq28. We examined 15 members of a family in which RP appeared to be transmitted in an X linked manner. Ocular examinations were performed, and fundus photographs and electroretinograms were obtained for selected patients. Blood samples were obtained from all patients and an additional seven family members who were not given examinations. Visual acuity in four affected individuals ranged from 20/40 to 20/80+. Patients described the onset of night blindness and colour vision defects in the second decade of life, with the earliest at 13 years of age. Examined affected individuals had constricted visual fields and retinal findings compatible with RP. Based on full field electroretinography, cone function was more severely reduced than rod function. Female carriers had no ocular signs or symptoms and slightly reduced cone electroretinographic responses. Affected and non-affected family members were genotyped for 20 polymorphic markers on the X-chromosome spaced at 10 cM intervals. Genotyping data were analysed using GeneMapper software. Genotyping and linkage analyses identified significant linkage to markers DXS8061, DXS1073, and DXS1108 with two point LOD scores of 2.06, 2.17, and 2.20, respectively. Haplotype analysis revealed segregation of the disease phenotype with markers at Xq28.

Adolescent↗
PubMed2006

Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3.

BACKGROUND: Horizontal gaze palsy with progressive scoliosis (HGPPS) is an autosomal recessive disorder characterised by congenital absence of horizontal gaze, progressive scoliosis, and failure of the corticospinal and somatosensory axon tracts to decussate in the medulla. We previously reported that HGPPS patients from consanguineous pedigrees harbour homozygous mutations in the axon guidance molecule ROBO3. METHODS: We now report two sporadic HGPPS children of non-consanguineous parents who harbour compound heterozygous mutations in ROBO3. The mother of one of the children also had scoliosis DNA was extracted from a blood sample from each participant using a standard protocol, and the coding exons of ROBO3 were amplified and sequenced as previously described. RESULTS: Each patient harboured two unique heterozygous mutations in ROBO3, having inherited one mutation from each parent. CONCLUSIONS: HGPPS can result from compound heterozygous mutations. More comprehensive examinations of parents and siblings of HGPPS patients are required to determine if the incidence of scoliosis in individuals harbouring heterozygous ROBO3 mutations is greater than in the general population.

Child↗
PubMed2005

Ocular pathology in congenital heart disease.

PURPOSE: To describe the ocular findings in subjects with congenital heart disease (CHD). METHODS: In a prospective study, the same observer examined 240 consecutive patients with CHD admitted to the medical centre. Two independent geneticists performed identification of syndromes. RESULTS: The commonest anatomic cardiac anomalies were ventricular or atrial septal defects (62), tetralogy of Fallot (39), pulmonary stenosis (25), and transposition of the great arteries (24). The heart lesions were divided physiologically into volume overload (90), cyanotic (87), and obstructive (63). In all, 105 syndromic subjects included the velocardiofacial syndrome (18), Down's syndrome (17), CHARGE association (6), DiGeorge syndrome (5), Williams syndrome (3), Edwards syndrome (3), Noonan syndrome (3), VACTERL association (2), and Patau syndrome (trisomy 13) (2). The paediatric team recognized 51 patients as syndromic. Two independent geneticists recognized additional 54 patients as syndromic. Positive eye findings were present in 55% (132) and included retinal vascular tortuosity (46), optic disc hypoplasia (30), trichomegaly (15), congenital ptosis (12), strabismus (11), retinal haemorrhages (8), prominent eyes (7), and congenital cataract (6). There was a strong correlation between the retinal vascular tortuosity and both a low haematocrit (P=0.000) and a low arterial oxygen saturation (P=0.002). CONCLUSIONS: Patients with CHD are at a high risk for ocular pathology and need screening for various ocular abnormalities.

Child, Preschool↗
PubMed2003

Bilateral microphthalmia with cyst, facial clefts, and limb anomalies: a new syndrome with features of Waardenburg syndrome, cerebro-oculo-nasal syndrome, and craniotelencephalic dysplasia.

We report a patient with bilateral microphthalmia with cyst, limb anomalies, and multiple facial malformations. This patient has clinical features similar to Waardenburg ophthalmo-acromelic syndrome, cerebro-oculo-nasal syndrome, and craniotelencephalic dysplasia. Although all of these syndromes are characterized by microphthalmia, the presently reported patient does not have the complete pattern of any of these syndromes, It is possible that he has a previously undescribed syndrome, most closely related to the cerebro-oculo-nasal syndrome with malformations outside the craniofacial region. More case reports are needed to further delineate this possibly new syndrome.

Abnormalities, Multiple↗
PubMed2001

Confirmation of the autosomal recessive syndrome of ectopia lentis and distinctive craniofacial appearance.

We report four members of a Lebanese Druze family with the syndrome of lens dislocation, spontaneous filtering blebs, anterior segment abnormalities, and a distinctive facial appearance. The constellation of clinical abnormalities in these patients is not suggestive of the Marfan syndrome or other connective tissue disorders associated with ectopia lentis. We previously described this syndrome in another presumably unrelated and highly inbred Druze family from the mountains of Lebanon. We postulated autosomal recessive inheritance in a pseudo-dominant pedigree. A few isolated reports of similar cases are scattered in the world literature. We now confirm that this is a distinct autosomal recessive syndrome whose gene mutation is enriched in the Lebanese Druze community.

Ectopia Lentis↗
PubMed2001

Dominant radial drusen and Arg345Trp EFEMP1 mutation.

PURPOSE: To report a new North American family with dominant radial drusen and Arg345Trp mutation in the EFEMP1 gene. METHODS: Clinical and molecular genetic family study. RESULTS: Four family members had macular drusen, and one had submacular fibrosis and visual loss. An Arg345Trp mutation of the EFEMP1 gene was detected in three affected family members, but not in three unaffected members. CONCLUSION: The Arg345Trp mutation remains the only cause of Doyne hereditary macular dystrophy, also known as Malattia Leventinese or radial dominant drusen.

Adult↗
PubMed2001

Anterior transposition of the inferior oblique muscle as the initial treatment of a snapped inferior rectus muscle.

Snapping or tearing of an extraocular muscle refers to its rupture across its width, usually at the junction between muscle and tendon several millimeters behind the insertion. Tearing occurs during strabismus or retinal reattachment surgery, or after trauma. If the proximal end of the muscle cannot be located, transposition procedures are necessary to achieve ocular realignment. These surgical procedures carry the risk of anterior segment ischemia, especially in the elderly. Anterior transposition of the inferior oblique muscle has been used for the treatment of inferior oblique overaction, especially in the presence of a dissociated vertical deviation, and in patients with fourth nerve palsy. We transposed the inferior oblique muscle insertion in a 73-year-old woman with a snapped inferior rectus muscle.

Aged↗
PubMed2001

Comparison of clinical characteristics of familial and sporadic acquired accommodative esotropia.

PURPOSE: To compare the clinical characteristics of patients with familial and nonfamilial acquired accommodative esotropia. METHODS: We recruited 48 patients from 33 families with acquired accommodative esotropia (an inward deviation of the eyes of 10 PD or more, a hypermetropia greater than or equal to +1.50 D, and an onset of esotropia at, or later than, 1 year of age). Our control group consisted of 20 patients with no known family history. Spherical error of refraction, stereoacuity, and need for strabismus surgery were determined and the 2 groups were compared. RESULTS: No statistically significant difference was found between the spherical equivalent error of refraction in familial cases (mean = +4.50 OD, +4.63 OS; range = +1.50 to +10.30 OD, +2.00 to +9.38 OS) versus those with nonfamilial disease (mean = +4.93 OD, +5.02 OS; range = +2.50 to +11.00 OD, +2.50 to +10.90 OS) (P =.47 OD; P =.47 OS). There also was no difference between the percentage of patients with familial disease who had some degree of stereoacuity (58%) and those without a family history (59%) (P > .99). Patients with familial acquired accommodative esotropia did not require more surgical interventions (26%) than those with nonfamilial acquired accommodative esotropia (30%) (P = .79). CONCLUSIONS: The general clinical characteristics of familial and nonfamilial acquired accommodative esotropia are very similar.

Accommodation, Ocular↗
PubMed2001

Update on the molecular genetics of retinitis pigmentosa.

Retinitis pigmentosa (RP) is a heterogeneous group of retinal dystrophies characterized by photoreceptor cell degeneration. RP causes night blindness, a gradual loss of peripheral visual fields, and eventual loss of central vision. Advances in molecular genetics have provided new insights into the genes responsible and the pathogenic mechanisms of RP. The genetics of RP is complex, and the disease can be inherited in autosomal dominant, recessive, X-linked, or digenic modes. Twenty-six causative genes have been identified or cloned for RP, and an additional fourteen genes have been mapped, but not yet identified. Eight autosomal dominant forms are due to mutations in RHO on chromosome 3q21-24, RDS on 6p21.1-cen, RP1 on 8p11-21, RGR on 10q23, ROM1 on 11q13, NRL on 14q11.1-11.2, CRX on 19q13.3, and PRKCG on 19q13.4. Autosomal recessive genes include RPE65 on chromosome 1p31, ABCA4 on 1p21-13, CRB1 on 1q31-32.1, USH2A on 1q41, MERTK on 2q14.1, SAG on 2q37.1, RHO on 3q21-24, PDE6B on 4p16.3, CNGA1 on 4p14-q13, PDE6A on 5q31.2-34, TULP1 on 6p21.3, RGR on 10q, NR2E3 on 15q23, and RLBP1 on 15q26. For X-linked RP, two genes, RP2 and RP3 (RPGR), have been cloned. Moreover, heterozygous mutations in ROM1 on 11q13, in combination with heterozygous mutations in RDS on 6p21.1-cen, cause digenic RP (the two-locus mechanism). These exciting molecular discoveries have defined the genetic pathways underlying the pathogenesis of retinitis pigmentosa, and have raised the hope of genetic testing for RP and the development of new avenues for therapy.

Chromosome Mapping↗
PubMed2000

Choroidal rupture associated with forceps delivery.

PURPOSE: To report a case of choroidal rupture associated with forceps delivery. METHOD: Case report. RESULTS: We examined a 4-year-old boy with a history of a retinal scar in the right eye. The child was delivered with forceps and had bitemporal ecchymoses at birth. There was no other history of trauma. Ophthalmoscopic examination of the right eye with a vision of counting fingers revealed linear scars from choroidal rupture in the posterior pole, including one through the macula. Anterior segment examination was normal. Examination of the left eye was completely normal. CONCLUSION: Ocular trauma associated with forceps delivery may rarely result in choroidal ruptures, even in the absence of external signs of injury, such as breaks in Descemet membrane.

Child, Preschool↗
PubMed2000

Clinical spectrum of chromosome 6-linked autosomal dominant drusen and macular degeneration.

PURPOSE: To describe the clinical phenotype and the intrafamilial variation in retinal findings in a North American family with an autosomal dominant drusen disorder that maps to chromosome 6q14. METHODS: Ophthalmic examinations were carried out on participating family members. Fundus photographs were obtained whenever possible. Electroretinography was performed on the proband and her father. Blood was drawn for DNA analysis. RESULTS: Twelve family members had drusen and/or atrophic macular degeneration. The disease in asymptomatic young adults is characterized by fine drusen that are most conspicuous in the macula. The proband presented at 3 years of age with atrophic maculopathy and drusen. Her cousin was found to have atrophic macular lesions and drusen in the first year of life. Two older affected individuals have reduced vision from cicatricial and atrophic macular changes. The gene for the disease was mapped to chromosome 6q14 and appears to be adjacent to but distinct from the locus for North Carolina macular dystrophy. CONCLUSIONS: There is extreme variability in the clinical expression of this dominant form of drusen and macular degeneration. Most young adults have fine macular drusen and good vision. Affected infants and children may have congenital atrophic maculopathy and drusen. There is historical evidence of progression of the disease in late adulthood with moderate visual loss.

Adolescent↗
PubMed2000

A new locus for dominant drusen and macular degeneration maps to chromosome 6q14.

PURPOSE: To report the localization of a gene causing drusen and macular degeneration in a previously undescribed North American family. METHODS: Genetic mapping studies were performed using linkage analysis in a single family with drusen and atrophic macular degeneration. RESULTS: The clinical manifestations in this family ranged from fine macular drusen in asymptomatic middle-aged individuals to atrophic macular lesions in two children and two elderly patients. We mapped the gene to chromosome 6q14 between markers D6S2258 and D6S1644. CONCLUSIONS: In a family with autosomal dominant drusen and atrophic macular degeneration, the gene maps to a 3.2-cM region on chromosome 6q14. This locus appears to be distinct from, but adjacent to, the loci for cone-rod dystrophy 7 (CORD7) and North Carolina macular dystrophy (MCDR1). Future identification of the gene responsible for the disease in this family will provide a better understanding of macular degeneration.

Adolescent↗
PubMed2000

Evidence of genetic heterogeneity in autosomal recessive congenital fibrosis of the extraocular muscles.

PURPOSE: Autosomal recessive congenital fibrosis of the extraocular muscles (CFEOM2) has been described in families from Saudi Arabia. Affected individuals have ptosis and exotropic ophthalmoplegia, and their disease has been mapped to chromosome 11q13. Here, we describe the phenotypic findings in a similarly affected Yemenite family and analyze the family for linkage to the CFEOM2 locus, as well as to the autosomal dominant CFEOM1 and CFEOM3 loci on chromosomes 12cen and 16q24, respectively. METHODS: The family was ascertained through two affected daughters. There are four unaffected siblings, and the parents are consanguineous. Each family member was examined, and linkage analysis was performed using markers from the CFEOM1, CFEOM2, and CFEOM3 loci. RESULTS: Both affected daughters have congenital bilateral ophthalmoplegia. The 15-month-old proband has restrictive exotropia. She fixates with either eye in abduction and with a compensatory head turn to the opposite side. Her 4-year-old sister has a small exotropia and severely limited eye movements. All other family members have normal ophthalmologic examinations. Genetic analysis excluded linkage of the family's disease to the CFEOM2 and CFEOM3 loci. A lod score of 2.0 (the maximum possible, given the family size and structure), was obtained at the CFEOM1 locus, and the alleles reduced to homozygosity in both affected daughters and none of the other children. CONCLUSIONS: These data establish that there is genetic heterogeneity in autosomal recessive CFEOM and suggest that this second recessive locus may be allelic to the autosomal dominant CFEOM1 locus at 12cen.

Blepharoptosis↗
PubMed2000

Screening relatives of patients with familial chronic open angle glaucoma.

PURPOSE: To describe the value and the results of screening of family members of individuals with familial chronic open-angle glaucoma (COAG) for the disease. DESIGN: Cross-sectional study of families with COAG. PARTICIPANTS: Eighty-six individuals from 15 families with COAG. TESTING: Complete ophthalmologic examinations, automated perimetry, and optic nerve photography. MAIN OUTCOME MEASURES: Disease status as glaucoma patient (at least two of three parameters abnormal: intraocular pressure, visual field, or disc appearance), glaucoma suspect (one of three parameters abnormal), or normal. RESULTS: Twenty-six relatives were diagnosed with COAG. The diagnosis was most frequently made on the basis of intraocular pressure readings and automated perimetry. Twenty-three relatives were classified as glaucoma suspects; automated perimetry was the most useful modality for the detection of abnormalities in these individuals. Siblings of COAG patients had the highest risk of COAG developing (64.7%) compared with children (13.2%) or other blood relatives (22.2%). CONCLUSIONS: When COAG is present in more than one family member, immediate and other relatives should be evaluated for glaucoma by means of clinical examination and automated perimetry.

Adult↗
PubMed2000

A patient with de Morsier and Duane syndromes.

de Morsier syndrome, or septo-optic dysplasia, is a developmental malformation complex characterized by optic nerve hypoplasia, dysgenesis of the septum pellucidum, and hypothalamic-pituitary dysfunction. (1,2) In Duane retraction syndrome, there is absence of the sixth nerve nucleus with congenital retraction of the globe and narrowing of the lid fissure in adduction, frequent abduction deficiency, and variable limitation to adduction of the affected eye. (3) The purpose of this report is to present a patient with the uncommon and previously unreported concurrence of both of these congenital malformation complexes, presumably because of a common disturbance of neuronal development.

Abnormalities, Multiple↗
PubMed2000

Oral erythromycin treatment for childhood blepharokeratitis.

Blepharokeratitis is a chronic external ocular and adnexal inflammatory condition marked by erythematous and edematous lid margins, lid margin crusting and scaling, meibomian gland inflammation and inspissation, and conjunctival hyperemia. The associated keratitis usually involves the inferior cornea and is characterized by punctate epithelial keratopathy and marginal stromal infiltrates. The inflammation sometimes leads to corneal thinning, scarring, and vascularization. The standard therapy for adult blepharokeratitis includes lid hygiene, topical cortico-steroid preparations, and topical antibiotics. Oral tetracycline and its analogues, doxycycline and minocycline, are used in adults to treat associated meibomian gland dysfunction. Whereas blepharitis is common in children, blepharokeratitis is rare and is often associated with severe ocular and psychosocial morbidity. Treatment of youths may be problematic because of poor compliance with lid hygiene and therapy that includes drops and ointment.(1) Furthermore, the use of tetracycline and its analogues is contraindicated in children aged less than 8 years because it may cause dental enamel abnormalities. Isolated case reports have suggested that erythromycin may be a reasonable alternative to tetracycline in childhood blepharokeratitis.(2,3) We report on the successful treatment of this condition with oral erythromycin in 5 children.

Administration, Oral↗