Congenital stationary night blindness in a patient with mild learning disability due to a compound heterozygous microdeletion of 15q13 and a missense mutation in TRPM1.

The complete form of congenital stationary night blindness (cCSNB) represents a non-progressive retinal disorder characterized by night vision problems and often congenital nystagmus, reduced vision, high myopia, strabismus and normal fundus appearance. Clinically this form of CSNB can be diagnosed by full-field electroretinogram. The mode of inheritance can be X-linked and autosomal recessive with mutations in genes coding for proteins mainly present at the dendritic tips of ON-bipolar cells. Mutations in NYX, GRM6, GPR179, LRIT3 and TRPM1 lead to this condition. The latter gene defect represents the major form underlying cCSNBC. It codes for the melastatin-related transient receptor 1 expressed in the inner nuclear layer of the retina, with the protein localized in ON-bipolar cells. To date, various homozygous or compound heterozygous mutations in TRPM1 have been reported. Small chromosomal rearrangements are frequent cause of mental retardation. In rare cases deletions can overlap with a mutation on the remaining chromosome and lead to a recessive disorder. Here, we describe a patient with mild neurological deficiencies and cCSNB caused by a microdeletion on 15q32 overlapping with a TRPM1 variant.

[Recent eye surgery]. / Nouveautés en chirurgie oculaire.

The evolution of eye surgery has been truly extraordinary since the last decades, with the development of machines and techniques more and more accurate and effective. In this article will be detailed the novelties in terms of cataract surgery and refractive surgery.

L'évolution de la chirurgie oculaire a été vraiment extraordinaire depuis les dernières décennies, avec le développement de machines et techniques de plus en plus précises et efficaces. Dans cet article seront détaillées les nouveautés en termes de chirurgie de cataracte et chirurgie réfractive.

Treating diabetes with islet transplantation: lessons from the past decade in Lille.

Type 1 diabetes (T1D) is due to the loss of both beta-cell insulin secretion and glucose sensing, leading to glucose variability and a lack of predictability, a daily issue for patients. Guidelines for the treatment of T1D have become stricter as results from the Diabetes Control and Complications Trial (DCCT) demonstrated the close relationship between microangiopathy and HbA1c levels. In this regard, glucometers, ambulatory continuous glucose monitoring, and subcutaneous and intraperitoneal pumps have been major developments in the management of glucose imbalance. Besides this technological approach, islet transplantation (IT) has emerged as an acceptable safe procedure with results that continue to improve. Research in the last decade of the 20th century focused on the feasibility of islet isolation and transplantation and, since 2000, the success and reproducibility of the Edmonton protocol have been proven, and the mid-term (5-year) benefit-risk ratio evaluated. Currently, a 5-year 50% rate of insulin independence can be expected, with stabilization of microangiopathy and macroangiopathy, but the possible side-effects of immunosuppressants, limited availability of islets and still limited duration of insulin independence restrict the procedure to cases of brittle diabetes in patients who are not overweight or have no associated insulin resistance. However, various prognostic factors have been identified that may extend islet graft survival and reduce the number of islet injections required; these include graft quality, autoimmunity, immunosuppressant regimen and non-specific inflammatory reactions. Finally, alternative injection sites and unlimited sources of islets are likely to make IT a routine procedure in the future.

[Diagnosis of a sudden loss of vision (without redness nor eye pain)]. / Le diagnostic d'une perte de vue brutale (sans rougeur ni douleur oculaire).

Sudden loss of vision without redness nor eye pain may come from numerous causes of varying severity. It presents a major source of anxiety for the patient who will seek for urgent consultation. The diagnostic approach is based on history and eye examination, eventually completed by a neurological examination. The purpose of this article is to provide general practitioners simple clues allowing them to quickly orientate the diagnosis. Following simple guidelines, they will be able to treat the condition correctly or refer to an adequate specialist when needed. True emergencies are retinal detachment, central retinal artery occlusion, intracranial hypertension, Horton giant cells arteritis, transient ischemic attack, stroke, pituitary apoplexy and cortical visual loss.

Giant cell arteritis: the internist should not be a lone rider in this potentially blinding condition.

We report the case of a 66-year-old woman with visual loss due to anterior ischaemic optic neuropathy. The diagnosis of giant cell arteritis was made on the basis of classic clinical characteristics and haematological abnormalities. Despite corticosteroid treatment, involvement of the other eye occured, resulting in a bilateral and permanent loss of vision. The follow-up was marked by two relapses within the 6 months after the first episode. In order to prevent blindness, ophthalmologists should be familiar with this disorder and should actively participate in the treatment, not leaving the internist deciding alone about tapering corticotherapy.

A proof-of-concept study of the effectiveness of a removable device for offloading in patients with neuropathic ulceration of the foot: the Ransart boot.

AIM: To undertake a proof-of-concept study to determine whether a removable offloading device (the Ransart boot) for the management of diabetic foot ulcers (DFU) was as effective as reports of non-removable devices. RESEARCH DESIGN AND METHODS: This observational study used the Ransart boot for patients with DFU, in seven specialist centres. If a patient had two or more ulcers, one was selected as the index ulcer. Ulcers were classified by the University of Texas (UT) system. RESULTS: There were 135 patients (mean age 60.3 +/- 11.4 years); 96 (71.1%) male. Median ulcer duration at presentation was 90 [interquartile range (IQR) 30-1825] days. Seven were lost to follow-up, seven developed other major illnesses and four died; outcomes were documented in the remaining 117. Eighty-two (70.1% of 117) healed, after a median (IQR) 60 (43-99) days, while 22 (18.8%) ulcers were resolved by amputation (one major). The remaining 13 (11.1%) patients were judged non-compliant. There was a close correlation between ulcer classification at baseline and both time to healing (P < 0.001 chi(2)-test) and amputation (P < 0.001; Spearman's rank correlation coefficient). There was a positive correlation between ulcer duration at presentation and time to healing (P < 0.02), UT class (P < 0.01), glycated haemoglobin (P < 0.02) and amputation (P < 0.04). CONCLUSIONS: Time to healing and incidence of amputation were comparable with those previously reported for non-removable devices. Given that a removable device is much more acceptable to the patient, the effectiveness, cost and acceptability of the removable devices, such as the Ransart boot, need to be compared with a non-removable device in a randomized trial. Diabet. Med. 26, 778-782 (2009).

Fundus autofluorescence in a case of occult macular dystrophy.

PURPOSE: To document for the first time intrinsic retinal pigment epithelium (RPE) fluorescence in occult macular dystrophy (OMD). This entity is characterized by a central cone dysfunction leading to a decline of visual acuity without visible fundus and fluorescein angiography abnormalities. A great variability in clinical findings and in the pattern of inheritance have been reported suggesting probably several etiologies of which some are well known but seen too early to detect significant changes. METHODS: Fundus autofluorescence imaging is a recent method to detect early retinal pigment epithelial alterations. It may visualise disease specific abnormalities in the retinal pigment epithelium often not yet visible on ophthalmoscopy such as Stargardt disease, rod-cone dystrophy. This method was applied in a member of a family with OMD. RESULTS: The normal fundus autofluorescence observed in our patient allowed the distinction between well-known maculopathies not yet visible on ophthalmoscopy but showing abnormal autofluorescence, and genuine occult macular dystrophy. CONCLUSION: Fundus autofluorescence imaging in our case of dominant autosomal OMD suggests a healthy and functional RPE. This examination of RPE should therefore be added to the work-up of suspected OMD.

[Classification and profile of adverse drug effects]. / Classification et profils des effetS secondaires médicamenteux.

It is necessary to classify adverse drug reactions by grading the certainty of causal relationship between the drug administration and the adverse reaction. The most widely used classification is the one of the World Health Organization (WHO).

[Visual cortes--is it a concern?]. / Le cortex visuel est-il concerné?

The visual cortex may be involved in adverse drug reactions, leading to three different clinical presentations: cortical blindness, visual hallucinations and visual aura without headache. The drugs with potential visual cortex toxicity are described.

[Toxicity of recent and less recent drugs on the optic nerve. Does Viagra cause blindness?]. / Toxicité des médicaments récents et moins récents sur le nerf optique. Le Viagra rend-il aveugle?

The optic nerve is quite vulnerable to the toxic effect of drugs. Since the last thirty years new drugs have appeared that are potentially harmful to the optic nerve. They are described.

[Comparative study of cyclopentolate drops versus spray in cycloplegia in children]. / Etude comparative de la cycloplégie par cyclopentolate en gouttes et en spray chez des enfants.

INTRODUCTION: Instillation of cyclopentolate drops with their irritant effect is difficult for children to bear. The purpose of this study was to compare the tolerance and efficacy of cyclopentolate spray versus drops. MATERIAL AND METHODS: The cycloplegic effect of cyclopentolate spray prepared and conditioned in the hospital was compared with drops in 62 eyes of 32 children consulting in our department. The nonparametric Wilcoxon test for paired data was used to assume there was no significant difference between the refractive measurements with spray or drops. RESULTS: The mean age of our patients was 6.3 years (SD, 3.4 years). The refractive values ranged from -17.3 diopters to +8 spheric diopters and -4 to 0 cylindric diopters. The nonparametric Wilcoxon test for paired data showed no significant difference between cycloplegic measurements with drops or spray. CONCLUSION: Cyclopentolate spray is a good alternative to traditional drops, leading to equal cycloplegic efficacy but greater tolerance in children and easier administration by the nursing staff.

Screening for amblyogenic factors in preschool children with the retinomax hand-held refractor: do positive children have amblyopia and is treatment efficacious?

PURPOSE: To determine the visual acuity (VA) in a group of preschool children who were true positives for refractive screening (positive group) in order to compare it with the VA of a sample of children without any refractive anomaly (control group); also, to investigate if true-positive treated children can achieve the VA of the control group within what delay. METHODS: Fifty seven children without any refractive anomaly were tested with the VA child chart if the Nidek SCP 670 projector; 47 children presenting with the refractive anomalies were tested with the same chart. A Kruskal Wallis exact test for singly ordered tables were used to compare VA between those groups and a non-parametric Wilcoxon test for paired samples was used to compare pre- and post-treatment VA in 27 children of the positive group. The mean time necessary to achieve the post-treatment VA was calculated. RESULTS: Median VA: 20/20 in the control group, 20/33 in the positive group. The VA difference between the two pre- and post-treatment VA are highly significant. Among the 27 treated children, pre-treatment median VA was 20/50, post-treatment 20/20. The differences between the pre- and post-treatment VA was 9 months. CONCLUSION: The positive group had a significantly lower VA than the control group. In the treated group, treatment initiated at a mean age of 4 years resulted in an increase in VA to that of the control group after an average time of 9 months, encouraging early screening and treatment before VA is measureable in order to shorten this delay.

Comparison between two hand-held autorefractors: the Sure-Sight and the Retinomax.

PURPOSE: To compare the results of manifest refraction obtained with two different hand-held autorefractors (Sure-Sight, Welch Allyn Co. and Retinomax 1, Nikon Inc.) and with the Topcon RMA 6000 on-table autorefractor in order to estimate any potential bias between these refractometers and to compare the diagnostic performances of these two hand-held autorefractors as screening devices. METHODS: Ninety-eight children were refracted under manifest conditions with the three above-mentioned refractometers and under cycloplegic conditions with the Topcon on-table autorefractor, or by means of retinoscopy. The agreement between the manifest measurements obtained with the three different autorefractors was studied using the method of Bland and Altman. The validity of several thresholds of manifest refractive anomalies as measured with the Sure-Sight and with the Retinomax was estimated by receiver operating characteristic (ROC) curves using cycloplegic measures as reference. results There is a spherical positive bias of 1 D between the Sure-Sight and the Retinomax and better agreement between the Topcon and the Retinomax. The surface area indexes of the ROC curves and the diagnostic performances in term of sensitivity and specificity are better with the Retinomax in cases of hyperopia, astigmatism and anisometropia. For myopia, the Sure-Sight has better performance. CONCLUSIONS: The results suggest that either device may be sufficient for assessing refractive errors in children in a screening setting. However, because of a bias between both refractometers in measuring the sphere, distinctive referral criteria must be chosen for the detection of hyperopia and myopia. The diagnostic performance is slightly in favor of the Retinomax.

[Abnormal eyelid positions in Brown syndrome]. / Les malpositions palpébrales dans le syndrome de Brown.

PURPOSE: To describe the possible abnormal upper eyelid positions in congenital Brown syndrome (BS) and discuss physiopathology. CONTEXT: A typical symptom of BS, the incapacity to raise the eye in adduction, is usually accompanied by a retraction of the upper eyelid. However, as the abnormal position of the eye often refers to a patient looking straight ahead into the distance, abnormal eyelid positions are possible but are on the whole unknown. PATIENTS AND METHODS: The study investigated 82 patients with unilateral congenital BS, who consulted between 1989 and 2001. The primary position of the upper eyelid concerned was carefully measured, each side separately. The patients were then classified into three groups according to the type of difficulty encountered when raising the upper eyelid: group 1--those with a raising deficiency in adduction (42 cases), group 2--those with a raising deficiency in adduction and in primary position (26 cases), group 3--those with a global raising deficiency with predominance in adduction (14 cases). Fifty patients were operated on for strabismus, after which the position of the upper eyelid was remeasured. RESULTS: An abnormal position of the upper eyelid was noted in 23 patients (28%) and the distribution between the different groups was as follows: group 1, 14%; group 2, 30%; group 3, 63%. The following malpositions were found: pseudoptosis with hypotropia, eight cases; ptosis, six cases; pseudoretraction with vertical oculomotor disorder, five cases; real upper eyelid retraction, four cases. Ptosis and pseudoptosis were observed more often when BS involved the nondominant eye; retraction or pseudoretraction was observed more often when BS involved the dominant eye. After surgery for vertical strabismus, the abnormal position of the upper eyelid had remarkably decreased and only three cases required specific surgery for ptosis. CONCLUSION: The abnormal position of the upper eyelid in primary position was found in nearly one-third (28%) of the patients with BS, therefore a quite frequent occurrence. It sometimes involved associated congenital ptosis. However, the most frequent symptom was a deficiency of the eyelid that was caused either by the patient being incapable of preventing the eyelid from falling (ptosis and pseudoptosis) or the patient making a compensatory effort to raise the eyelid (retraction and pseudoretraction).

[Detection of ocular disorders in children in the context of school medicine and general practice]. / Détection des affections oculaires chez l'enfant dans le cadre de la médecine scolaire et du médecin généraliste.

After brief anatomical and terminological considerations, several steps of the child's visual development are mentioned as well as the ocular diseases important to diagnose and how to track them down with what sort of materials and tests. Several aspects of amblyopia and its risk's factors are then emphasized together with the arguments to justify amblyopia screening.

[Superior oblique myokymia secondary to neurovascular compression]. / Myokymies du grand oblique secondaires à une compression neuro-vasculaire.

In a patient with superior oblique myokymia, a contact is visualised between the right trochlear nerve and a vascular structure by high resolution thin slices magnetic resonance images coupled to angio-MR. A similar contact is not visualised on the left side. This suggests that the neuro-vascular contact is the cause of this superior oblique myokymia and offers the possibility of neuro-surgical decompression if necessary.