Biomedical subjects

François-Xavier Borruat

Publications and source records attributed to François-Xavier Borruat.

11 recordsLinked to original sources

PubMed2006

Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness.

Mutations in genes encoding either components of the phototransduction cascade or proteins presumably involved in signaling from photoreceptors to adjacent second-order neurons have been shown to cause congenital stationary night blindness (CSNB). Sequence alterations in CACNA1F lead to the incomplete type of CSNB (CSNB2), which can be distinguished by standard electroretinography (ERG). CSNB2 is associated with a reduced rod b-wave, a substantially reduced cone a-wave, and a reduced 30-Hz flicker ERG response. CACNA1F encodes the alpha 1-subunit of an L-type Ca2+ channel (Cav1.4 alpha ), which is specific to photoreceptors and is present at high density in the synaptic terminals. Ten of our patients with CSNB2 showed no mutation in CACNA1F. To identify the disease-causing mutations, we used a candidate-gene approach. CABP4, a member of the calcium-binding protein (CABP) family, is located in photoreceptor synaptic terminals and is directly associated with the C-terminal domain of the Cav1.4 alpha . Mice lacking either Cabp4 or Cav1.4 alpha display a CSNB2-like phenotype. Here, we report for the first time that mutations in CABP4 lead to autosomal recessive CSNB. Our studies revealed homozygous and compound heterozygous mutations in two families. We also show that these mutations reduce the transcript levels to 30%-40% of those in controls. This suggests that the reduced amount of CABP4 is the reason for the signaling defect in these patients.

Adolescent↗

PubMed2006

Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene.

PURPOSE: To identify the genetic defect, and to phenotype, three consanguineous Tunisian families presenting with early-onset retinal degeneration (EORD). METHODS: All accessible family members were included. They underwent blood sampling and ophthalmological examination including, when possible, full-field ERG and pupillometry. A genome-wide linkage analysis was initiated. Mutation analysis of the RPE65 gene within the linked interval was performed by bi-directional sequencing. RESULTS: Eleven out of 53 examined members were clinically affected with an EORD. Linkage analysis revealed a maximal lod score of 4.02 (theta=0.1) for the marker D1S207 on 1p31. Mutational screening of the RPE65 gene identified a homozygous R91W mutation co-segregating with the disease in all affected individuals. Eleven homozygotes had nystagmus and acuities ranging from CF to NLP. Two retinal patterns were identified: pattern 1 presented mid-peripheral deep white dot deposits and virtually no clumped pigmentation, whereas pattern 2 showed mid-peripheral pigmented clumps without any white deposits. Homozygotes had no detectable full-field ERG and an abnormal pupillary light reflex. Eleven heterozygotes had normal visual function. CONCLUSION: We identified and characterised an endemic form of early onset rod-cone dystrophy in a consanguineous population from northeastern Tunisia, due to the prevalence of a single RPE65 mutation. Two funduscopic patterns were identified: white dot deposits in earlier stages and clumped pigment in later stages.

Adult↗

PubMed2006

Photophobia associated with a demyelinating lesion of the retrochiasmal visual pathway.

PURPOSE: To present two patients in whom photophobia was a predominant presenting symptom of retrochiasmal demyelination. DESIGN: Observational case report. METHODS: Two women who experienced an acute onset of photophobia underwent neuroophthalmic examination and investigations at a single institution. RESULTS: Examination revealed a homonymous visual field defect in both patients. Magnetic resonance imaging (MRI) demonstrated a hyperintense lesion in the area of the right posterior thalamus in one patient and enhancing lesions in the deep white matter of the temporal lobes bilaterally with contrast enhancement of the right optic tract in the second patient. Additional investigations, including lesion biopsy in the first patient, revealed demyelination as the most likely etiology. Improvement of photophobia, visual field defect, and radiographic abnormalities was documented over the next three to four months without accompanying treatment in both patients. CONCLUSIONS: Central pathology, including demyelination of the retrochiasmal visual pathway, should be considered in patients who experience acute photophobia.

Adult↗

PubMed2004

Non-functioning pituitary carcinoma.

Null-cell carcinomas of the pituitary are extremely rare. We describe a 41-year-old woman with a large adenohypophyseal neoplasm presenting as a primary nonfunctioning tumor without pituitary insufficiency. Signs of mass effect with progressive unilateral ocular motility disorders and anterior pituitary failure developed rapidly. Histopathological examination of the trans-sphenoidally removed tumor showed a primary pituitary null cell tumor with high mitotic index. Pituitary carcinoma was suspected because of rapid relapse of ocular motility disorders and of intra-sellar tumor growth after surgery. Radiotherapy of the sellar and parasellar area with a total dose of 59.4 Gy was performed, achieving marked tumor reduction and a significant improvement of ocular motility disorders. However, 6.5 months after presentation the patient rapidly declined and died of carcinomatous meningitis. Less than 100 pituitary carcinomas have been published so far, most of them as single-case reports, and endocrine, immunohistochemical, and ultrastructural data have not been described in the majority of cases. At presentation, there are no specific symptoms that allow to distinguish benign from malignant tumor. Prognosis is poor, since no curative treatment has been established, but aggressive surgery and radiotherapy has been recommended. Our case highlights the poor prognosis of nonfunctioning pituitary carcinomas.

Adult↗

PubMed2004

Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients.

PURPOSE: CFEOM type 1 refers to a group of congenital eye movement disorders that is characterized by nonprogressive ophthalmoplegia affecting all the extraocular muscles. Individuals with the classic form of CFEOM are born with bilateral ptosis, infraducted eyes, and impossibility to raise their eyes above midline. This phenotype is often inherited as an autosomal dominant trait. CFEOM1 maps to the FEOM1 locus on chromosome 12 and is the consequence of mutations in the KIF21A gene. We analyzed three families and one sporadic case for potential genetic heterogeneity. METHODS: Blood samples were collected from members of three families (Swiss, Turkish, and French origin) and one sporadic case (Iranian origin). In families, haplotype was tested for linkage to the autosomal dominant CFEOM1 locus on chromosome 12. Linkage studies were conducted using 2 polymorphic DNA microsatellite markers, D12S331 and D12S1048. Mutation analysis was performed by PCR amplification and bidirectional direct sequencing. RESULTS: Haplotype analysis was compatible with linkage to the CFEOM1 locus in all affected members. Mutation analysis revealed the classical mutation R954W in all affected cases, including the sporadic case, regardless of their ethnic origin. The c.2860C>T base change was not observed in 100 individuals from various ethnic origins. CONCLUSIONS: As reported, the classical c.2860C>T mutation represents a hotspot for mutation in various ethnic groups, including Swiss, Turkish, French, and Iranian patients. Sporadic cases are often due to neo-mutations as in our case. Mutation analysis is important, especially in sporadic cases, to correctly evaluate recurrence and transmission risks.

Chromosomes, Human, Pair 12↗

PubMed2003

An unusual presentation of herpes zoster ophthalmicus: orbital myositis preceding vesicular eruption.

PURPOSE: To present a case of orbital myositis associated with herpes zoster ophthalmicus. DESIGN: Observational case report. METHODS: A 47-year-old woman with acute retrobulbar eye pain and diplopia preceding the vesicular rash of herpes zoster ophthalmicus was evaluated and treated. RESULTS: Magnetic resonance imaging showed enlargement and enhancement of extraocular muscles consistent with an inflammatory myopathy. Following acyclovir and prednisone treatment, all symptoms resolved, and neuralgia did not develop. CONCLUSIONS: Herpes zoster may cause symptoms and signs of orbital myositis before eruption of cutaneous skin lesions and thus should be considered in the differential diagnosis of an acute orbital myositis.

Acyclovir↗

PubMed2003

Traumatic dysfunction of the optic chiasm.

BACKGROUND: Trauma of the optic chiasm has been reported but its incidence is low. PATIENTS AND METHODS: Retrospective review of patients diagnosed with traumatic optic neuropathy between 1992 and 2002. RESULTS: Among 91 patients with a diagnosis of traumatic optic neuropathy, 10 showed evidence of optic chiasm involvement. All were males, the average age was 32 years (range 22-43). Injuries resulted from a rapid deceleration in 8 cases (car or motorcycle accident or fall from a minimum height of 5 meters). Coma was present in 6 cases and neurologic disorders in 8 cases. Optic neuropathy was present in 8/10 cases. Visual improvement was noted in two patients who suffered from milder head trauma. CONCLUSIONS: Optic chiasm dysfunction following head trauma is not that rare, as 11 % of our traumatic optic neuropathy group presented such a dysfunction. In some cases the visual field defect was obvious, but in some others it was more subtle. Visual prognosis was generally poor, probably related to the the severity of the impact.

Adult↗

PubMed2003

Bilateral optic neuropathy as the presenting sign of systemic non-Hodgkin lymphoma.

BACKGROUND: Neuro-ophthalmological complications of lymphoma are numerous and occur mostly in the setting of a known lymphoma or as the sign of a recurrence. We report the case of a woman who presented a simultaneous bilateral optic neuropathy as the initial clinical manifestation of a non-Hodgkin malignant lymphoma. HISTORY AND SIGNS: An 87-year-old patient presented simultaneous bilateral visual acuity loss, dyschromatopsia, visual field defects and frontal headaches. Pallid disc swelling was present in both eyes with peripapillary hemorrhages. Bilateral anterior ischemic optic neuropathy was diagnosed, and giant cell arteritis was suspected. Temporal artery biopsy was negative. Marked visual improvement occurred after 24 hours of intraveinous methylprednisolone therapy, and vision completely recovered within a week. THERAPY AND OUTCOME: Four months later, vision deteriorated again with bilateral pallid disc swelling. Blood studies revealed hyperleucocytosis (56 G/L) with 94 % lymphocytes. General investigations revealed a low-grade non-Hodgkin disseminated lymphoma. CONCLUSIONS: Bilateral steroid-responsive anterior optic neuropathy can be the initial manifestation of systemic lymphoma, but this case illustrates the diagnostic dilemma of some anterior optic neuropathies.

Aged↗

PubMed2003

Persisting visual hallucinations and illusions in previously drug-addicted patients.

BACKGROUND: Tetrahydrocannabinol (cannabis) and lysergic acid diethylamide (LSD) are psychomimetic agents that induce impairment of sensory perception. Illusions and hallucinations are mostly visual. Most frequently the visual phenomena occur in conjunction with drug abuse. PATIENTS AND METHODS: Three previously drug-addicted patients were examined for either persisting or spontaneously recurrent visual phenomena. Two patients complained of persisting visual illusions (vibrations, dyskinetopsia and impaired depth perception) during more than 12 months after an excessive use of cannabis. The third patient was a multiple drug abuser (LSD for 6 years) and complained of visual hallucinations and palinopsia following heavy ethanol intake, 20 years after stopping the use of any drug. RESULTS: Results from neuro-ophthalmic and neurological examinations were normal for the first two patients. The third patient presented abnormal visual fields with preserved visual acuity; electroencephalography was abnormal, suggesting an underlying toxic encephalopathy. CONCLUSIONS: Persistent visual illusions or hallucinations can occur during several months after an intake of cannabis. Flash-back phenomena are frequent amongst LSD abusers. They rarely occur at long times after the last intake (20 years in the present case); when they do so, precipitating factors are often present (ethanol, medication, anesthesia). Such phenomena reflect the cortical dysfunctions that can be induced by illegal substances.

Adolescent↗

PubMed2002

[New finding: transitory horizontal pendular nystagmus secondary to neonatal abstinence syndrome].

UNLABELLED: New finding: transient horizontal pendular nystagmus as a sequella to post-natal withdrawal syndrome. BACKGROUND: Children born of mothers who abused illegal substances during pregnancy can present with signs and symptoms of a withdrawal syndrome, including irritability, jitteriness, diarrhoea. Usually these symptoms appear from a few hours up to a few days after birth. It is frequently followed by a post-withdrawal period of several weeks duration with crying, excitability, sleep irregularities and feeding difficulties. The purpose is to report the presence of nystagmus in infants born from drug-addicted mothers. METHODS: Five children born from drug-addicted mothers were examined. RESULTS: Three children (case 1 - 3) presented with congenital horizontal pendular nystagmus. Two other children (case 4 - 5) presented with a peculiar transient horizontal nystagmus, lasting 6 months and 7 months respectively. CONCLUSIONS: To our knowledge, transient horizontal pendular nystagmus has never been reported in the literature. It was detected in two children who suffered from a post-natal withdrawal syndrome necessitating substitution therapy, including morphine. This may represent a form of morphine midbrain toxicity.

Child, Preschool↗

PubMedDate not supplied

Indocyanine green angiography anomalies in ocular syphilis.

OBJECTIVE: To report indocyanine green (ICG) angiography anomalies in ocular syphilis. DESIGN: A noncomparative, interventional case series. PARTICIPANTS: Eight patients (16 eyes) affected by ocular syphilis. METHODS: All patients presenting with a diagnosis of active ocular syphilis between January 1994 and December 2001 were evaluated by a standard fluorescein and ICG angiography protocol. ICG angiography was repeated after completion of systemic antitreponemal and antiinflammatory treatment. RESULTS: ICG angiography anomalies were detected in 12 (75%) of 16 eyes. Two types of anomalies were observed: late-phase scattered hyperfluorescent spots (11 eyes) and persistent staining of retinal vessels (1 eye). Of these 12 eyes, 4 had no alteration by concomitant fluorescein angiography. When ICG angiography was repeated (5 +/- 1 weeks after the beginning of treatment), ICG angiography anomalies disappeared. CONCLUSIONS: ICG angiography may be a valuable tool in the assessment of patients with active ocular syphilis. Retinal and choroidal vascular anomalies can be determined that would otherwise go undetected by funduscopy and/or fluorescein angiography. It can also be useful in monitoring antitreponemal therapy.

Anti-Bacterial Agents↗