Pascal Dureau

Ophthalmologic findings in suspected child abuse victims with subdural hematomas

PURPOSEnShaken baby syndrome consists of intracranial and intraocular hemorrhages in young children in the absence of signs of direct head trauma. Because it has major medicolegal implications, it must be distinguished from accidental trauma. This study aimed to determine the ophthalmologic manifestations and their natural course in child abuse victims and whether ophthalmologic examination can help to distinguish shaken babies from children with accidental impact head trauma.nnnDESIGNnProspective comparative observational case series.nnnMETHODSnA prospective study was conducted from January 1996 to September 2001 on 241 consecutive infants hospitalized for a subdural hematoma to determine the frequency and the type of ocular abnormalities encountered. At admission, 186 children were highly presumed to have been shaken (group 1), 38 children had signs of direct head trauma without any relevant history of trauma (group 2), some of them having been possibly shaken, whereas 7 children had proven severe accidental head trauma (group 3).nnnRESULTSnIntraocular hemorrhages were the main finding. Their shape, laterality, and size were not significantly different in groups 1 and 2. However they were significantly more frequent in nonaccidental head trauma than in infants with head impact (77.5% versus 20%). None of the group 3 children had intraocular hemorrhage. Eighty-two percent of intraocular hemorrhages resolved within 4 weeks.nnnCONCLUSIONSnIntraocular hemorrhages are frequent in shaken babies but not specific of this syndrome. When associated with a subdural hematoma, they are strongly suggestive of shaken neglect. They are rare in pediatric accidental head trauma.

Renal coloboma syndrome

OBJECTIVEnTo characterize the ocular features of renal coloboma syndrome.nnnDESIGNnProspective, observational case series.nnnPARTICIPANTSnTwelve patients referred by the pediatric nephrology clinic and the ophthalmic records of five additional patients.nnnMETHODSnFor each patient, age at the time of examination, gender, renal function, and presence of a mutation in the PAX2 gene were noted. All patients underwent measurement of visual acuity and anterior and posterior segment examination with fundus photography. Goldmann visual fields were tested in four cases.nnnMAIN OUTCOME MEASURESnVisual acuity, optic disc abnormalities, and mutation in the PAX2 gene.nnnRESULTSnMean age was 21.5 years. Renal failure was mild in 6 patients and severe in 11 patients. A mutation in the PAX2 gene was identified in nine patients, without correlation to the ocular phenotype. Ocular features could be divided into five groups: optic disc dysplasia limited to an unusual pattern of retinal vessels without functional consequence; optic disc pit with normal visual acuity and blind spot enlargement; large optic disc coloboma; large coloboma of the optic disc and adjacent retina; morning glory anomaly (these last three conditions were accompanied by poor visual acuity). Fundus abnormalities were symmetrical in most cases and unrelated to renal status.nnnCONCLUSIONSnOphthalmic and renal characteristics of the renal coloboma syndrome are highly variable. The need for dialysis or renal transplantation can occur early in life or several years later. A wide range of ocular abnormalities located in the posterior segment can be observed. Mild optic disc dysplasia or pit have no functional consequence and can be underdiagnosed. More severe colobomas or related abnormalities, such as morning glory anomaly, often lead to poor visual acuity. Molecular biology allows detection of the mutations in the PAX2 gene, but can be negative in approximately 50% of cases. The observation of an optic disc coloboma or related abnormality stimulates the ophthalmologist to propose simple nephrologic investigations to check for renal hypoplasia, a potentially life-threatening disease. Conversely, renal hypoplasia stimulates the nephrologist to ask for a fundus examination to confirm the diagnosis and check for complications such as retinal detachment.

Quantitative analysis of intravitreal injections in the rat

Intravitreal injections are currently used in the rat to introduce a therapeutic factor in the eye, especially for experimental treatments of retinal degenerations. The injected volume and its location can influence the quantification of results. We have investigated the quantitative effect of a single intravitreal injection in rats at different ages and for different volumes. Albinos rats aged three weeks or two months received intravitreal injections of 1, 3, 5 or 10 µl China ink. Animals were sacrificed immediately after injection, eyes were enucleated, fixated, embedded in paraffin and microtomy was performed in a sagittal plane. Regularly spaced sections were analyzed to reconstruct the vitreous and injected dye volumes. The measured vitreous volume was 6.76 ± 0.37 mm 3 in three weeks old rats and 13.36 ± 0.64 mm 3 in two months old rats. Mean intravitreal ink volumes immediately after injection were 0.8 mm 3 for 1 µl injections, 2 mm 3 for 3 µl, 2.3 to 2.6 mm 3 for 5 µl and 3.2 mm 3 for 10 µl. The percentage of vitreous volume involved by the injection ranged from 4.4% to 33.2%. The injected volume is limited by the large lens size of the rat. Extraocular loss of injected solution increases for higher injected volumes, with larger standard deviations. In this model, the dye tends to localize behind the lens. A 3 or 5 µl volume appears to have the best reproducibility with minimum loss of solution.

PAX2 mutations in renal–coloboma syndrome: mutational hotspot and germline mosaicism

The renal–coloboma syndrome (RCS, MIMxa0120330) is an autosomal dominant disorder caused by PAX2 gene mutations. We screened the entire coding sequence of the PAX2 gene for mutations in nine patients with RCS. We found five heterozygous PAX2 gene mutations: a dinucleotide insertion (2G) at positionxa0619 in one sporadic RCS case, a single nucleotide insertion (619xa0+xa0G) in three unrelated cases, and a single nucleotide deletion in a familial case. In this familial case, three affected sibs showed a striking ocular phenotypic variability. Each of the sibs carried a 619insG mutation, whilst unaffected parents did not, suggesting the presence of germline mosaicism. Interestingly, the 619insG mutation has been previously reported in several patients and is also responsible for the Pax21Neu mouse mutant, an animal model of human RCS. This study confirms the critical role of the PAX2 gene in human renal and ocular development. In addition, it emphasises the high variability of ocular defects associated with PAX2 mutations ranging from subtle optic disc anomalies to microphthalmia. Finally, the presence of PAX2 germline mosaicism highlights the difficulties associated with genetic counselling for PAX2 mutations.

Evolution of ocular manifestations in nephropathic cystinosis: a long-term study of a population treated with cysteamine.

BACKGROUNDnNephropathic cystinosis is characterized by an accumulation of cystine crystals within most body tissues. Renal transplantation and oral cysteamine have improved the general prognosis of the disease, and ocular manifestations are now the most common complication. This long-term follow-up study describes the sequence of ocular manifestations in patients with nephropathic cystinosis treated with oral and topical cysteamine.nnnMETHODSnData were recorded for all patients with cystinosis examined between 1980 and 2000. For each patient, photophobia and visual acuity were evaluated and slit-lamp and fundus examinations were performed. For some patients, an electroretinogram was also performed.nnnRESULTSnTwenty-nine patients were observed during this period. They received oral and topical cysteamine. Photophobia and loss of visual acuity generally began by 10 years of age but were severe only after 15 years of age. Peripheral corneal epithelial infiltration appeared in the first few years of life. Infiltration evolved toward the depth and center of the cornea during the second decade of life. Retinopathy was present in 51.7% of the patients, with 3 cases of maculopathy and 3 cases of flattening on electroretinogram.nnnCONCLUSIONSnPhotophobia and corneal infiltration, although generally severe after 15 years of age, could be treated with topical cysteamine and corneal transplantation. Retinal infiltration, previously described as frequent and potentially blinding, is currently observed in only half of these patients, with mild visual impairment. This could be related to the treatment with oral cysteamine reaching the retinal vascularization.

Iris fixation of foldable intraocular lenses for ectopia lentis in children

PURPOSE: To describe a technique for iris fixation of acrylic intraocular lenses (IOLs) in ectopia lentis and evaluate the medium‐term anatomical and functional results in children. SETTING: Pediatric Ophthalmology Department, Fondation Rothschild, Paris, France. METHODS: This retrospective study included 17 eyes of 9 children. The technique consisted of lens ablation, leaving in place the capsule in the zone of nonruptured zonule, and an IOL placement in the remaining sulcus with 2 iris sutures. The age of patients, postoperative complications, follow‐up, anatomical results, final refraction, and visual acuity were noted. RESULTS: Median age was 4.8 years. One case of postoperative hyphema and 1 case of aseptic endophthalmitis occurred and resolved after treatment. The anatomical outcome was favorable in all cases, with centered IOLs and round pupils. Mean follow‐up was 16.3 months. Mean final refraction was +0.18 diopter, and mean final best corrected visual acuity was 20/32 (range 20/50 to 20/20). CONCLUSIONS: The results suggest that iris fixation of foldable IOLs for ectopia lentis in children can lead to good anatomical and functional results. The use of the remaining part of the sulcus is helpful in reaching correct positioning of the IOL. The complication rate is similar to that with other techniques described in the literature, whereas the small incision and the absence of transscleral sutures could simplify the short‐term and long‐term evolution.

Management of retinal detachment in Coats disease. Study of 15 cases.

Purpose: To correlate the final outcome with the initial presentation and treatment in Coats disease retinal detachment. Methods: The records of 15 patients with retinal detachment were evaluated retrospectively regarding the age at the time of diagnosis, initial presentation, methods of treatment, visual and anatomic results, and complications. Changes in vision and retinal status were noted and correlated with the different methods of treatment to propose a therapeutic strategy. Results: In 15 patients (15 eyes), with a mean follow-up of 28 months (range, 6 months to 7 years), Coats disease was diagnosed at a mean age of 3.4 years (range 3 months to 15 years). Primary management was laser photocoagulation in seven patients, cryotherapy in two, and vitreoretinal surgery in six. Additional treatment was necessary in nine patients of whom six had laser photocoagulation, one had cryotherapy, and two had vitreoretinal surgery. Visual stability was achieved in 12 cases. Anatomic improvement was achieved in 12 eyes (3 cases of phthisis bulbi). No enucleation was ultimately necessary. Conclusions: Carefully selected treatment can improve almost each eye with Coats disease complicated by retinal detachment. Although visual outcome is poor, anatomic improvement or stability is the main goal of the management.

Long-term results of Trabeculectomy for congenital glaucoma

BACKGROUNDnTo evaluate long-term results of intraocular pressure after trabeculectomy for congenital glaucoma.nnnMETHODSnData concerning 55 eyes (30 patients) who underwent trabeculectomy for congenital glaucoma were recorded. Mean age at diagnosis was 3.4 months (range: 2 days to 10 months). Mean follow up was 56.8 months. Associated anterior segment abnormalities, need for one or more new trabeculectomy procedures during follow up, and intraocular pressure at the last examination were noted.nnnRESULTSnOf the 55 eyes, 48 met the success criteria (87.3%). A second and sometimes third or fourth trabeculectomy were necessary during follow up in 17 eyes (31%). Of the seven failures at final examination, six (85%) had been diagnosed and operated on before the age of 1 month, whereas 15 of the 48 eyes with good results (31.2%) were in this group (p < 0.02). Of the seven failures at final examination, six (85%) were operated on two to four times, whereas 10 of the 48 eyes with good results (20.1%) were in this group (p < 0.01). An associated anterior segment abnormality was present in 13 eyes (23%), and did not seem to influence the final outcome.nnnCONCLUSIONnTrabeculectomy is an effective procedure for long-term control of intraocular pressure in congenital glaucoma. The early diagnosis and surgical treatment correspond to a poor long-term prognosis, probably related to initially severe cases. In these cases, intraocular pressure is difficult to control despite repeated surgical procedures.

Congenital toxoplasma chorioretinitis transmitted by preconceptionally immune women

Editor,—During pregnancy primary toxoplasmic infection of the mother is a well known cause of congenital chorioretinitis due to fetal contamination by Toxoplasma gondii . It is generally thought that women infected before conception have no risk of transmitting the disease to the fetus unless they are severely immunocompromised.1 We report two children with severe ocular lesions due to congenital toxoplasmosis transmitted by preconceptionally immune mothers.nn### CASE 1nnA 1 year old girl presented with a convergent squint as a consequence of bilateral large macular scars. She was the first child of a healthy immunocompetent mother. Three months before conception, the systematic French prenuptial serological screening of the mother showed a recent toxoplasmic infection diagnosed by a high titre of specific immunoglobulin M (IgM) (IgM 5200, Biotrol Merck (normal <200), IgG= 40 IU/ml) (Table 1). She was treated with spiramycin 3 MIU per day for a month. At the time of referral, the mother’s titre of IgM had significantly decreased (IgM 200) and showed a slightly higher rate of IgG (140 IU/ml). Her daughter’s serological status showed a high titre of specific IgG (624 IU/ml), the presence …

Quantitative analysis of subretinal injections in the rat

Abstractu2002Background: Experimental therapeutic approaches to retinal degenerations often require the subretinal injection of a therapeutic agent. The injected volume and the age of the animal can influence the proportion of the retinal surface affected by the subretinal injection. We have investigated the quantitative effect of a single injection in the subretinal space. Methods: Normal and Royal College of Surgeons rats aged 1 week, 3 weeks or 2 months received subretinal transscleral injections of 1, 3, 5 or 10 µl China ink. After 24 h, animals were killed, injected eyes were enucleated and fixated, and the retinas flattened. An image analyzing program was used to measure the total retinal surface and the retinal surface affected by the dye. Results: The mean retinal surface affected by the injection ranged from 5.24±2.76 mm2 to 14.8±2.3 mm2, depending on ani- mal age and injected volume. The injection affected 8.79±0.89 to 36.9±8.13% of total retinal surface. There was no statistically significant difference between normal and Royal College of Surgeons rats. Intravitreal leakage of the dye was more frequent with increasing injection volumes. Conclusion: The retinal surface affected by a single subretinal injection increases with the injected volume, but this increase is not proportional. Higher volumes lead to a loss of injected solution, either in the vitreous body or through the sclero-tomy. In 2-month-old rats, a 3-µl subretinal injection appears to have the best reproducibility, with 20–30% of retinal surface covered by the injected dye.