Papers by Sabine Defoort-dhellemmes
Journal Francais D Ophtalmologie, 2009
The authors report the ophthalmological characteristics and the postoperative results of patients... more The authors report the ophthalmological characteristics and the postoperative results of patients presenting with spheno-orbital meningioma. A retrospective study of 23 charts of patients, presenting with spheno-orbital meningioma between 1994 and 2007, was performed. The data of preoperative and postoperative ophthalmologic examinations, perimetry and visual evoked potentials were collected. All the 23 patients were female. Diagnostic elements were proptosis (n=18), filling of the temporal pit (n=12) and visual impairment (n=11). Diagnosis was confirmed by orbital imaging. Perimetry and visual evoked potentials enabled to detect asymptomatic impairment of visual function, perimetry being the more sensitive method. Neurosurgery was the gold standard treatment, completed with radiotherapy in some cases of incomplete surgery or recurrence. Meningioma without optic nerve compression in the optic canal had better postoperative results with stabilization or improvement of the visual acuity compared with more unpredictable results obtained in cases with preoperative compression in the optical canal. Long term follow up of these patients is necessary because of the risk of relapse (n=3).
Journal Francais D Ophtalmologie, Mar 1, 2019
PubMed, Feb 1, 2019
Child photophobia. Photophobia is abnormal intolerance of light. It is a commonest complaint and ... more Child photophobia. Photophobia is abnormal intolerance of light. It is a commonest complaint and a reason for ophthalmological assessment in adults. Child photophobia is less frequent and must be explored. First of all, life-threatening pathology (meningitis) should be ruled off. Then, thorough ocular examination will establish a right diagnosis. Ocular surface alterations are prominent cause of photophobia. Retinal and optic pathway diseases could also lead to light aversion. This article is a systematic review of conditions linked with photophobia in children. It also offers a panorama of clinical imaging in typical cases.
Journal of Neuro-ophthalmology, Dec 1, 2020
L eber hereditary optic neuropathy (LHON) is typically characterized by a subacute painless seque... more L eber hereditary optic neuropathy (LHON) is typically characterized by a subacute painless sequential visual loss in young or middle-aged men. Most cases are associated with 3 primary mitochondrial DNA (mtDNA) point mutations, that is, m.11778G.A, m.14484T.C, and m.3460G.A, involving different subunits of the mitochondrial respiratory chain complex 1. Here, we describe a family harboring the rare m.13051G.A mutation with variable clinical presentation of the mitochondrial disease among the affected subjects.
PubMed, Feb 1, 1989
The parallelism between ophthalmoscopy and angiography in the different grade classifications of ... more The parallelism between ophthalmoscopy and angiography in the different grade classifications of idiopathic epiretinal membranes is not compulsory: spotty and irregular fluorescein leakage is apparent in many cases, even early. This leakage, who might bring biochemical factors stimulating cellular migration and proliferation could therefore be usually associated with more progression of the membrane.
Acta Ophthalmologica, Aug 6, 2012
Purpose This study presents a new technique for recording visual pursuit and its evaluation. In i... more Purpose This study presents a new technique for recording visual pursuit and its evaluation. In infants, visual acuity is usually estimated using behavioral methods. Nowadays, an objective response can be recorded using eye trackers based on the corneal reflex and pupil positions. However, these systems have limitations, such as large eye eccentricity and parasite reflections on tears or eyeglasses. To avoid these constraints, a new technique has been developed and evaluated.
Springer eBooks, Aug 29, 2017
![Research paper thumbnail of [Management of congenital microphthalmos and anophthalmos]](https://attachments.academia-assets.com/111961017/thumbnails/1.jpg)
PubMed, 1997
Purpose: To better characterize congenital anophthalmos and microphthalmos in order to distinguis... more Purpose: To better characterize congenital anophthalmos and microphthalmos in order to distinguish which patients need surgical treatment. Materials and methods: A retrospective study of 42 cases with congenital anophthalmos and microphthalmos over a 16 years period was performed. Seven anophthalmos, 20 microphthalmic globes with no associated colobomatous orbital cyst and 15 microphthalmic globes associated with colobomatous orbital cyst were observed. Complete history, pediatrical and ophthalmological examination, electrophysiological feature, oculo-cerebral imagery and karyotype on each of the patients were reviewed. Results: Among all patients, lack of development of the lids was observed in 45% of cases. In our group of anophthalmos, 100% had micro-orbit. In our group of microphthalmic globes with no associated colobomatous orbital cyst, 30% had micro-orbit and in our group of microphthalmic globes associated with colobomatous orbital cyst, 6% had micro-orbit. 75% of patients had ocular anomalies and 39% had systemic anomalies, mostly on the face. Aetiology were found in 36% of cases. Visual evoked potentials and retinal electric feature were useful to better determine visual function. Conclusion: Expandable orbital prosthesis would appear to be the most effective therapy for certain cases of anophthalmos and microphthalmos with micro-orbit.
M S-medecine Sciences, Oct 1, 2013
Ophthalmic Genetics, Sep 3, 2019
Journal Francais D Ophtalmologie, Sep 1, 2021
Journal Francais D Ophtalmologie, Dec 1, 2012
Acta Ophthalmologica, Aug 6, 2012
Purpose The OPA1 gene, encoding a dynamin‐like mitochondrial GTPase, is responsible for autosomal... more Purpose The OPA1 gene, encoding a dynamin‐like mitochondrial GTPase, is responsible for autosomal dominant optic atrophy (ADOA, OMIM #165500), which can be associated with extra‐ocular abnormalities including sensorineural deafness.The purpose of this study is to determine, in a large series of patients carrying OPA1 mutations, the prevalence of the R445H mutation and of rarer OPA1 mutations in patients with ADOD and to describe the phenotype associated with these rarer mutations.Methods We retrospectively reviewed the files of all the OPA 1 patients with documented deafness diagnosed in our laboratory between 2003 and 2011.Results In our series, deafness occurred in 6.4% of OPA1 patients. Hearing loss occurred as the first sign of the disease in one third of the patients, prior to visual loss. In addition to the most common mutation responsible for ADOA and deafness (R445H), we report 6 additional mutations responsible for this association.Conclusion Deafness can be associated with dominant optic atrophy, due to OPA1 mutations, other than the classical R445H mutation. Unexplained sensorineuronal hearing loss can even be the first event and its association to optic atrophy and should prompt molecular genetic analysis, which can lead to an appropriate diagnosis.
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Papers by Sabine Defoort-dhellemmes