[Vision screening for children: Recommended practices from AFSOP]. / Le dépistage visuel chez l'enfant : les recommandations de l'Association Francophone de Strabologie et d'Ophtalmologie Pédiatrique (AFSOP).

In light of the international literature, a workgroup of experts from the AFSOP met in February 2019 to formulate updated recommendations for visual screening in children. An ophthalmologic examination during the first month of life is recommended for children at risk of developing infantile organic amblyopia. An ophthalmologic examination including cycloplegic refraction between 12 and 15 months of age is recommended for children at risk of developing functional amblyopia. At any age, a prompt ophthalmologic examination is recommended for a child suspected of functional or organic ocular pathology. In children without risk factors or warning signs, a systematic orthoptic screening examination is recommended during the third year of life, including a monocular visual acuity test, a cover-test and a refraction by photoscreener. The child is referred to the ophthalmologist only in the case of an abnormal screening result, according to the following criteria: visual acuity <5/10, or >1 difference between eyes, abnormal cover test, photodetection refraction values <-3D or>+2.5D for the sphere,>1.5D for astigmatism and>1D for anisometropia. Finally, we review normal childhood refractive errors as a function of age as well as the correct use of photo screening devices.

Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.

Mowat-Wilson syndrome (MWS) is a rare genetic syndrome characterized by a specific facial gestalt, intellectual deficiency, Hirschsprung disease and multiple congenital anomalies. Heterozygous mutations or deletions in the zinc finger E-box-binding homeobox2 gene (ZEB2) cause MWS. ZEB2 encodes for Smad-interacting protein 1, a transcriptional co-repressor involved in TGF-beta and BMP pathways and is strongly expressed in early stages of development in mice. Eye abnormalities have rarely been described in patients with this syndrome. Herein, we describe four patients (two males and two females; mean age 7 years) with MWS and eye malformations. Ocular anomalies included, iris/retinal colobomas, atrophy or absence of the optic nerve, hyphema, and deep refraction troubles, sometimes with severe visual consequences. All eye malformations were asymmetric and often unilateral and all eye segments were affected, similarly to the nine MWS cases with ophthalmological malformations previously reported (iris/chorioretinal/optic disc coloboma, optic nerve atrophy, retinal epithelium atrophy, cataract, and korectopia). In human embryo, ZEB2 is expressed in lens and neural retina. Using the present report and data from the literature, we set out to determine whether or not the presence of eye manifestations could be due to specific type or location of mutations. We concluded that the presence of eye malformations, although a rare feature in MWS, should be considered as a part of the clinical spectrum of the condition.

[Diagnosis and treatment of dysthyroid orbitopathy: a multidisciplinary disease]. / Prise en charge diagnostique et thérapeutique d'une orbitopathie dysthyroïdienne: une affection multidisciplinaire.

Graves' disease is a common autoimmune disorder that can be complicated, especially in smokers, by an orbitopathy which can sometimes jeopardize vision and result in functional sequelae affecting quality of life of these patients. Although the diagnosis of dysthyroid orbitopathy is usually obvious, clinical evaluation must specify the stage of progression (clinical activity score) and severity according to the European Group EUGOGO classification. At first, rapid restoration of the euthyroid state, smoking cessation and simple symptomatic ophthalmic treatment are suggested. In the case of severe or active orbitopathy, oral or intravenous corticosteroid therapy with or without orbital radiation therapy (and even emergency orbital surgery in the case of compressive optic neuropathy) should be implemented. Ultimately, orbital surgery (orbital decompression in cases of exophthalmos), oculomotor surgery (diplopia) or eyelid surgery (retraction) may be required depending on the severity of sequelae. A multidisciplinary approach involving ophthalmologist, endocrinologist and orbital surgeon should facilitate an overall diagnosis and treatment plan for these patients.

[Management of infantile cataracts: surgical technics and choices in lens implantation]. / Prise en charge des cataractes de l'enfant : techniques chirurgicales et choix de l'implant.

Management of congenital or infantile cataracts benefited from progresses realized in adult surgery. It stays however specific to children's eyes and is incorporated in a global therapeutic strategy. It must be guided by a pediatric ophthalmogical team used to this kind of treatment. We report here, function of the type of cataract, uni or bilateral, congenital or infantile, the choice of the timing of surgery, of the therapeutic strategy, parental information, and preoperative evaluation. The actual standard of surgery is bimanual phacoaspiration with posterior capsulorhexis and anterior vitrectomy. It is described step by step. Indication of lens implantation, choice of the type and power of IOL function of age of the child is described, be it for initial or secondary lens implantation.

[Botulinum injection in infantile strabismus. Results and incidence on secondary surgery in a long-term survey of 74 cases treated before 36 months of age]. / Injection de toxine botulique dans les strabismes précoces. Efficacité et incidence sur les indications chirurgicales ultérieures. A propos de 74 cas traités avant l'âge de 36 mois.

PURPOSE: To evaluate the long-term results of early treatment of infantile strabismus with botulinum toxin A injection and its incidence on secondary oculomotor surgery. PATIENTS AND METHODS: A cohort of 74 cases of children presenting infantile strabismus, aged 7-36 months (mean, 18 months), received no more than two injections of 5 IU of botulinum in both medial recti. Secondary surgery was performed when horizontal and/or vertical deviation persisted. RESULTS: The patients were examined 2-7 years after the last injection (mean, 3.5 years). Forty cases needed only one injection. We found 46 (62%) cases of microtropia (from -4 to +4 PD), 17 cases of esotropia less than 20 PD, eight cases of esotropia greater than 20 PD, and three cases of exotropia. Horizontal deviation was improved in 82.4% of the cases. The only predictive factor of failure was the presence of high adduction (p<0.05). DVD was found at the same frequency in all groups (50%). Twenty-seven cases (35%) had secondary surgery, 19 of which were associated with vertical surgery. The relaxant role of botulinum seems to be clearly proven given that we only found 22% of esodeviation persisting under general anesthesia with myoresolution during secondary surgery (approximately 70% in untreated cases). CONCLUSIONS: Early treatment of infantile strabismus with botulinum seems effective and safe, improving 82.4% of our cases. Medical treatment is, however, still mandatory. Only 35% of our cases needed secondary surgery versus 70% of patients in spontaneous progression. The amount of horizontal surgery seems reduced after botulinum treatment. Vertical factors, found in 70% of operated cases, seem a major factor of instability of the results.

[Unilateral congenital cataracts removed early: long-term refractive changes]. / Cataractes congénitales unilatérales opérées précocement: devenir réfractif à long terme.

PURPOSE: Predict long-term refractive changes after primary lens implantation for unilateral congenital cataract in order to know the intraocular lens power to use to obtain best functional results. METHODS: This retrospective study analyzed 53 children with unilateral congenital cataract operated on with primary intraocular lens implantation, with a mean follow-up of 6.8 years. The mean age at surgery was 2.98 years. RESULTS: The mean myopic shift per year was -0.83 D/year. Children operated on before the age of 2 years had a mean myopic shift of -9.15 D, and others presented -2.13 D. The variability of myopic shift decreased with age. The mean visual acuity was +0.25 logMAR. Four intraocular lenses were changed because of substantial anisometropia. CONCLUSION: Early surgery with primary implantation and intensive amblyopia treatment provide good long-term visual results. Long-term refractive changes of very young children operated on for unilateral congenital cataract is extremely variable. Changing the intraocular lens is conceivable when substantial anisometropia slows down amblyopia rehabilitation.

[Long-term functional results of unilateral congenital cataract treatment with early surgery: 20 case studies]. / Résultats fonctionnels à long terme du traitement des cataractes congénitales unilatérales opérées précocement. A propos de 20 cas.

PURPOSE: Evaluation of the long-term functional results of the treatment of unilateral congenital cataract (UCC) surgery before age 1. MATERIAL AND METHODS: Retrospective analysis of 20 consecutive cases of UCC operated on before age 1 and followed by the same medical team during the entire treatment period. Lens implantation adopted when surgically possible (15 cases) and medical treatment of amblyopia are described. Functional results are analyzed with a mean follow-up of 6 years (3.5-11 years) and compared with those of 31 similar cases operated on between 1 and 8 years of age. RESULTS: Four cases had less than 0.1 of final visual acuity, 8 cases remained between 0.1 and 0.4, and 8 cases obtained at least 0.5. Functional results with surgical, refractive, visual, oculomotor, and binocular data of all cases are described. Amblyograms are presented. DISCUSSION: Age at surgery, postoperative delay, type of cataract, and refractive progression were not found to be decisive in final results. We discuss the factors that seem important in the visual outcome and consequences on the sound eye of this heavy amblyopia treatment. In addition to early treatment, the absence of surgical complications and the continuity of patching, the quality of the initial organization of therapeutic strategy, and the continuity of the follow-up seem to be major factors for the success of long-term treatment. Treatment and follow-up should be centralized around a specialized team that will help the local team during the entire length of the treatment.

[INSERM-FNCLCC collective expertise. Recommendations for medical management of women with genetic risk of developing breast and/or ovarian cancer]. / Expertise collectice INSERM-FNCLCC. Recommandations portant sur la prise en charge des femmes ayant un risque d'origine génétique de développer un cancer du sein et/ou de l'ovaire.

BACKGROUND: Almost 10% of breast and ovarian cancer are inherited, and the majority are linked to BRCA1 and BRCA2 germline mutations. Despite the uncertainty in the management of women gene carriers, consensus guidelines were defined to assist practitioners', and patients' decisions about the health care decisions to be made. METHODOLOGY: The Ad Hoc Committee consisted of 14 experts designated by the French National Institute for Health and Medical Research. They all attended eleven workshops at which a systematic analytical review of more than 3500 articles was carried out. Five additional experts critically analysed the first version of the report. CRITERIA AND DECISION PROCESS: Two thresholds were defined on a probability scale giving the risk of developing breast or ovarian cancer, to serve as a means of deciding as whether an intervention is worthwhile. The first threshold is that above which an intervention can be envisaged or recommended; the second is that under which an intervention can be ruled out; between the two, the decision has to be made on a each by case basis. STRATEGIES ANALYZED: About breast cancer: 1) hormonal interventions; 2) primary prevention (diet, family planning and chemoprevention); 3) screening (breast self-examination, clinician breast examination, tumor markers, imaging); 4) prophylactic mastectomy. About ovarian cancer: 1) hormonal stimulation; 2) screening (clinical screening, ultrasound and tumor markers); 3) prophylactic oophorectomy. MAIN CONCLUSIONS: With each strategy the following points were dealt with; the information to be delivered to the Consultant, the procedure and the indications. In addition, the Committee's opinion about BRCA1 and BRCA2 mutation screening is that population-based or even large scale implementation are not justified. Although no scientific evidence is available, the Committee feels that specific management is indispensable and advocates the use of defined and evaluated procedures, and involvement in clinical trials.

[Inserm ad hoc committee: Recommendations for the management of women with a genetic risk for developing cancer of the breast and/or the ovary]. / Expertise collective Inserm-FNCLCC: recommandations portant sur la prise en charge des femmes ayant un risque d'origine génétique de développer un cancer du sein et/ou de l'ovaire.

BACKGROUND: Almost 10% of breast and ovarian cancer are inherited, and the majority are linked to BRCA1 and BRCA2 germline mutations. Despite the uncertainty, consensus guidelines were defined to assist practitioners', and patients' decisions about the health care decisions to be made. METHODOLOGY: The ad hoc committee consisted of 14 experts designated by the French National Institute for Health and Medical Research. They all attended eleven workshops at which a systematic analytical review of more than 3,500 articles was carried out. Five additional experts critically analyzed the first version of the report. PROCESS: Two thresholds were defined on a probability scale giving the risk of developing breast or ovarian cancer, to serve as a means of deciding as whether an intervention is worthwhile. The first threshold is that above which an intervention can be envisaged or recommended; the second is that under which an intervention can be ruled out; between the two, the decision has to be made on a each by case basis. SCREENING AND PREVENTIVE STRATEGIES ANALYZED: About breast cancer: 1) hormonal interventions; 2) primary prevention (diet, family planning and chemoprevention); 3) screening (breast self-examination, clinician breast examination, tumor markers, imaging); 4) prophylactic mastectomy. About ovarian cancer: 1) hormonal stimulation; 2) screening (clinical screening, ultrasound and tumor markers); 3) prophylactic oophorectomy. MAIN CONCLUSIONS: With each strategy the following points were dealt with: the information to be delivered to the consult and, the procedure and the indications. The committee's opinion about BRCA mutation screening is that population-based or even large scale implementation are not justified. The committee feels that specific management is indispensable and advocates the use of defined and evaluated procedures, and involvement in clinical trials.

Recommendations for medical management of hereditary breast and ovarian cancer: the French National Ad Hoc Committee.

BACKGROUND AND PURPOSE: Almost 10% of breast and ovarian cancers are familial, and the majority are linked to BRCA1 and BRCA2 germline mutations. Despite uncertainty about the management of female gene carriers, consensus guidelines have been established to assist practitioners and consultees in making health care decisions. METHODOLOGY: The Ad Hoc Committee was composed of 14 experts appointed by the French National Institute for Health and Medical Research, all of whom attended eleven workshops at which more than 3500 articles were systematically analyzed. Five additional experts critically analysed the first version of the report. CRITERIA AND DECISION PROCESS: On a probability scale of the risk of developing breast or ovarian cancers, two thresholds were defined for use in determining whether an intervention would be worthwhile. The first is the threshold above which an intervention can be envisaged or recommended, and the second is the one below which an intervention can be ruled out; between the two, the decision has to be made on a case-by-case basis. SCREENING AND PREVENTIVE STRATEGIES ANALYZED: With respect to breast cancer: 1) hormonal interventions; 2) primary prevention (diet, family planning and chemoprevention); 3) screening (breast self-examination, clinician breast examination, tumor markers, imaging); 4) prophylactic mastectomy. With respect to ovarian cancer: 1) hormonal stimulation; 2) screening (clinical screening, ultrasound and tumor markers); 3) prophylactic oophorectomy. MAIN CONCLUSIONS: For each strategy the following points were addressed: the information to be given to the consultee, the procedure and the indications. In addition, the committee's opinion about BRCA1 and BRCA2 mutation screening is that population-based, or even large-scale, implementation are not justified. Although no scientific evidence is available, the committee feels that specific management is indispensable and advocates the use of defined and evaluated procedures, and participation in clinical trials.

Visual outcome after paediatric cataract surgery: is age a major factor?

AIMS: To determine functional results after unilateral and bilateral cataract surgery in children with different aphakic optical correction. METHODS: In this retrospective study, we evaluated visual acuity and binocular vision in 107 children who underwent cataract surgery during the 10 year period from 1985 to 1995. Aphakia was corrected by an intracapsular intraocular lens (IOL), spectacles or contact lenses. RESULTS: Mean visual acuity was > 20/40 (< 0.3 log MAR) with normal binocular vision in 58 children over 7 months of age operated on for bilateral cataracts. Pseudophakic eyes regained visual acuity > 20/63 (< 0.5 log MAR) more often (90%) than aphakic eyes (46%) (p < 0.001). Binocular vision was also achieved more often after IOL implantation (p < 0.001). Visual outcome of early bilateral cataracts was less satisfactory in children with abnormal foveolar function. For 49 children who had surgery for unilateral cataracts, prognosis was poor when surgery was performed before the age of 7 months. For cataract surgery in older children (> or = 7 months) mean visual acuities were better with IOL implantation (p < 0.05). CONCLUSION: Cataract surgery with unilateral and bilateral IOL implantation can provide a beneficial effect on final visual outcome in children who are operated on before abnormal foveolar function develops.

[INSERM-FNCLCC collective expert's report. Recommendations for management of women having a genetic risk of developing breast and/or ovarian cancer. National Federation of Centers of the Fight Against Cancer]. / Expertise collective INSERM-FNCLCC. Recommandations portant sur la prise en charge des femmes ayant un risque d'origine génétique de développer un cancer du sein et/ou de l'ovaire.

BACKGROUND: Almost 10% of breast and ovarian cancer are inherited, and the majority are linked to BRCA1 and BRCA2 germline mutations. Despite the uncertainty, consensus guidelines were defined to assist practitioners', and patients' decisions about the health care decisions to be made. METHODOLOGY: The Ad Hoc Committee consisted of 14 experts designated by the French National Institute for Health and Medical Research. They all attended eleven workshops at which a systematic analytical review of more than 3500 articles was carried out. Five additional experts critically analyzed the first version of the report. PROCESS: Two thresholds were defined on a probability scale giving the risk of developing breast or ovarian cancer, to serve as a means of deciding as whether an intervention is worthwhile. The first threshold is that above which an intervention can be envisaged or recommended; the second is that under which an intervention can be ruled out; between the two, the decision has to be made on a each by case basis. SCREENING AND PREVENTIVE STRATEGIES ANALYZED: About breast cancer: 1) hormonal interventions; 2) primary prevention (diet, family planning and chemoprevention); 3) screening (breast self-examination, clinician breast examination, tumor markers, imaging); 4) prophylactic mastectomy. About ovarian cancer: 1) hormonal stimulation; 2) screening (clinical screening, ultrasound and tumor markers); 3) prophylactic oophorectomy. MAIN CONCLUSIONS: With each strategy the following points were dealt with: the information to be delivered to the consultant, the procedure and the indications. The Committee's opinion about BRCA mutation screening is that population-based or even large scale implementation are not justified. The Committee feels that specific management is indispensable and advocates the use of defined and evaluated procedures, and involvement in clinical trials.

Comparison of fluorine-surface-modified and unmodified lenses for implantation in pediatric aphakia.

PURPOSE: To compare the postoperative reaction in pediatric aphakic eyes to intercapsular intraocular lens (IOL) implantation with fluorine-modified poly(methyl methacrylate) (PMMA) IOLs and with unmodified IOLs. SETTING: Pediatric Ophthalmology Unit, Purpan University Hospital, Toulouse, France. METHODS: In this retrospective study, 107 consecutive eyes in 82 children were operated on for cataracts and intercapsular implantation. From January 1985 to December 1993, 87 eyes (Group 1) received an all-poly(methyl methacrylate) (PMMA), single-piece IOL; during 1994, 20 eyes (Group 2) received an IOL of the same design that had been fluorine surface modified. Mean age of the patients was 64.5 months (range 15 days to 16 years). Postoperatively, each group was monitored for immediate inflammatory response from the first to the eighth day and for secondary cicatricial response from 6 months to 1 year. RESULTS: There was no significant difference between the two groups in the early inflammatory response. Secondary cicatricial reaction was found more often in Group 1 in all age subgroups (P < .01), but especially 1 to 4 years (P < .02). CONCLUSION: Fluorine modification of PMMA IOLs is an effective and safe method to reduce the cicatricial response when IOL implantation is used to correct pediatric aphakia.

Brain electrical activity mapping in the study of visual development and amblyopia in young children.

Brain electrical activity mapping (BEAM) allows the study of electrical visual reactivity on a computerized electroencephalogram (EEG). We carried out 150 BEAM studies on 120 infants to evaluate the usefulness and reliability of this noninvasive technique in the assessment of vision in very young children, compared with other methods (clinical testing, preferential looking, and visual evoked potentials). BEAM demonstrated amblyopia at a cortical level and showed specific electrical signs of amblyopia. The visual reactivity was variably affected depending on the type of amblyopia present. In addition, different results of BEAM corresponded to different kinds of visual maturation delay and strabismus in the absence of amblyopia. BEAM appears to be useful in the initial screening and during treatment of deprivation and strabismic amblyopia, especially when other methods have failed to elicit the level of vision.

[Visual and sensory results of surgical treatment of cataract in children. Apropos of 135 cases]. / Résultats visuels et sensoriels du traitement chirurgical des cataractes de l'enfant. A propos de 135 cas.

PURPOSE: Visual outcome after cataract surgery in children. METHODS: The authors studied the functional results (visual acuity and binocular vision) of 135 children operated for unilateral or bilateral cataracts during the 9-year period 1985-1994. Aphakia was corrected by an implant within the capsular bag, spectacles or contact lenses. RESULTS: For bilateral cataracts, (68 patients), mean visual acuity > 20/40 and normal binocular vision are found together in cases of late appearance operated after 7 months of age. Pseudophakic eyes regained visual acuity greater than 20/40 more often than non-implanted eye, with a statistically significant difference (P < 0.001). Binocular vision was also obtained more often in children after implantation (P < 0.05). The functional results of operations on early cataracts treated before the age of 8 months were not as good because of abnormal development of the foveolar function. For unilateral cataracts (67 patients), the prognosis was poor when operated before the age of 8 months. Visual acuity rarely exceeded 20/200 however the aphakia was corrected. Prognosis was better for partial cataracts and late-appearing cataracts. Implantation appeared to be of more benefit, with a statistically significant difference (P < 0.05) for visual acuity greater than 20/40 in children receiving an implant. CONCLUSION: Regained binocular vision and absence of amblyopia depend on the quality of previous visual experience and absence of post-operative strabismus. Implantation appears beneficial for final visual results.

[Intercapsular implantation in the management of cataract in children. Study of 87 cases and comparison to 88 cases without implantation]. / Implantation intercapsulaire dans les cataractes de l'enfant. Etude de 87 cas et comparaison à 88 cas sans implantation.

PURPOSE: We compared the surgical results and complications between two groups of children operated for cataract with or without lens implantation. METHOD: One hundred seventy-five eyes in 126 children, aged 15 days to 16 years were operated for cataract with a surgical procedure of limbus phacoaspiration. Eighty-seven received a primary intercapsular one-piece PMMA Intra Ocular Lens (IOL). Conditions for lens implantation were restrictive: strictly intercapsular, no other ocular pathology, at any age in unilateral and usually after 3 years of age in bilateral cataracts. Follow up ranged from 6 months to 10 years. RESULTS: Primary fibrinous anterior chamber reaction was seen in all patients in the IOL group. It always regressed under medical treatment. Glaucoma, retinal detachment and reoperations rates were similar in the two groups. There is a high correlation (p < 0.001) between initial anterior vitrectomy and keeping a clear visual axis, even in the eldest group, but no difference with or without IOL. Local tolerance of IOL was evaluated. No effect on visual results was evidenced. Evolution of refraction in pseudophakic eyes doesn't show evident myopic shift. Secondary myopias found in older groups might be associated to "genetic" myopia more than a consequence of implantation. CONCLUSION: Intercapsular lens implantation in children does not statistically increase the rate of complication of cataract surgery. It can be chosen if a real functional benefit is expected. The choice of IOL's power depends on biometric results which are a function of age. Under correction is usually recommended but immediate emetropia must be the aim in unilateral cases to ease amblyopia's treatment.

[Retinopathy in premature infants. Present value of surveillance of premature and newborn infants at risk]. / Rétinopathie de la prématurité. Intérêt actuel de la surveillance des prématurés et nouveau-nés à risques.

Systematic ophthalmologic screening of infants in a Neonatal Intensive Care Unit is time consuming and sometimes difficult. In this retrospective study of 1200 infants examined in the neonatal unit of Toulouse Regional Hospital from January 88 through December 89, we tried to summarize our findings and assess the value of systematic screening. We found 118 infants with abnormal examination: 58 preterms had retinopathy of prematurity (ROP) (5.16%) with 36 stage I, 15 stage II, 7 stage III (2 stage III+ had cryotherapy), no stage IV. Risk factors are discussed. 40 preretinal hemorrhages, all found in the first week of life. Only 2 of them persisted beyond the 2nd month (0.2%) and we found vascular anomalies that were cryotreated. 20 had various diseases. Diseases requiring early treatment were found in a general context with obvious need of ophthalmologic examination. Our study shows that 4 infants: 2 ROP III+ and 2 retinal hemorrhages or 0.4% of all infants obtained an effective benefit from this systematic screening. We confirmed the value of this screening: all infants in the neonatal care unit have at least one ophthalmologic exam, before they leave the hospital. Preterm less than 1600 g or less than 2000 g with initial resuscitation are checked during first and second month. Preterm less than 1200 g or less than 1600 g who had more than one month of oxygen therapy are checked every month until the 6th month.