[Ocular manifestations in patients affected by Morquio syndrome (MPS IV)]. / Manifestations ophtalmologiques de la maladie de Morquio.

PURPOSE: The purpose of this study was to investigate the ocular manifestations in patients suffering from Morquio syndrome. METHODS: We reviewed the hospital records of 20 patients who underwent ophthalmological follow-up at hôpital Femme-Mère-Enfant, Bron, France, between December 2008 and February 2010. RESULTS: This retrospective study included 20 patients: 12 males and eight females. The mean age at the beginning of the retrospective study was 23 years. The most common ocular manifestations encountered, in order of frequency, were: corneal opacification (13/20), astigmatism (12/20) and the presence of punctate cataract (6/20). Visual acuity after optical correction was over 7/10 on average. The average best corrected visual acuity was estimated to be over 0.7. CONCLUSION: Although ocular complications in Morquio syndrome appeared to be associated with relatively well preserved visual acuity, ophthalmological follow-up is recommended to identify potentially curable complications such as astigmatism or lens opacities.

Influence of intraocular lens material on the development of acute endophthalmitis after cataract surgery?

PURPOSE: To investigate the causal relationship between acute postoperative endophthalmitis (POE) after cataract surgery and the biomaterial properties of the intraocular lens (IOLs) implanted. METHODS: This retrospective cohort study included all patients who had undergone cataract surgery with IOL implantation at the Lyon Croix-Rousse University Hospital between 1st January 1994 and 31st December 2004. Details respecting the type of IOL implanted (material and manufacturer) were meticulously recorded. The number of patients presenting with POE within 6 weeks of cataract surgery was documented together with their medical characteristics. These data were then compared, and Fisher's exact test was used to establish the significance of any apparent associations. RESULTS: Eight of the 5837 eyes manifested acute POE (0.14%). Seven of these were composed of polymethylmethacrylate (PMMA) and one of heparinized PMMA. Patients with PMMA IOLs carried a higher risk of developing POE than did those implanted with either heparinized PMMA (P=0.001), hydrophilic acrylic, or hydrophobic acrylic IOLs (P=0.002). CONCLUSIONS: The incidence of acute POE after cataract surgery in our hospital is similar to that currently reported for other institutions in developed countries. Our results add further evidence that IOL material and type are factors contributing to the risk to develop an acute POE after cataract surgery, and that PMMA IOLs may be associated with an increased risk of POE.

[Persistence and hyperplasia of primary vitreous]. / Persistance et hyperplasie du vitré primitif.

The persistence of the fetal vascular system is a rare ocular malformation whose origin remains unknown. It comprises a group of complex ocular malformations from which the various clinical forms have a heterogeneous functional prognosis. The diagnosis depends on a precise and complete examination of the child's eye, often under general anesthesia. Various clinical forms can be found together, ranging from the tiny form with no visual repercussion or ocular or systemic anomaly associated with the major forms involving the totality of the ocular structures and systemic syndromes. A systematic general pediatric examination is therefore recommended. The treatment is adapted individually for early and specific surgical and medical treatment. In the event of intervention, the induced aphakia will be corrected in one procedure with an implantation, generally sutured with the sclera, or at the time of a second intervention after the wearing of glasses or a contact lens. However, the complications can sometimes lead to rapid phthisis bulbi. Whatever solution is chosen, the final functional result has progressed thanks to early diagnosis, the surgical techniques suggested, even if implantation continues to be debated. Amblyopia must be treated for the entire sensitive period. However, despite good rehabilitation, the average functional prognosis remains disappointing, probably because of the overall ocular malformation.

[Persistent hyperplastic primary vitreous: a retrospective study]. / Persistance et hyperplasie du vitré primitif: étude rétrospective.

OBJECTIVES: The persistence and hyperplasia of the primary vitreous is a rare ocular malformation whose origin remains unknown. The goal of this study was to retrospectively analyze the records of the children followed in our department and to note sex, antecedents, age and reason for the first consultation, side and ocular structures involved, treatment, follow-up, complications, and progression. METHODS: The initial clinical examination was noted and completed by the examination under general anesthesia and the surgical or nonsurgical treatment proposed. RESULTS: Fifty-six eyes of 52 children were included: 19 anterior forms, four posterior, 25 mixed, and eight eyes already operated on in other centers. Fifty eyes had surgical treatment. At the end of follow-up, 13 eyes had a vision equal to or greater than 20/200 (23%) including five that were better than 20/100 (9%). Average follow-up was 32.5 months. CONCLUSIONS: Persistence of the fetal vascular system is a group of complex ocular malformations requiring an early diagnosis and well-adapted management.

[Ultrasound biomicroscopy and physiopathology of congenital iris cysts]. / Ultrabiomicroscopie et physiopathologie des kystes iriens congénitaux.

AIMS: Iris epithelial cysts, congenital or acquired, are rare tumors of the anterior chamber. The use of ultrasound biomicroscopy (UBM) and high-resolution echography (50 MHz) specified the diagnosis and confirmed the developmental hypothesis. METHODS: UBM examination with general anesthesia can provide very good vision of cysts and iris structure similar to histological examination. Successive slices are systematically produced. We report two cases: one in a 3-month-old boy with a pupillary type of pigment epithelial cyst and one in a 23-month-old boy with stromal iris cyst provides new information on iris cysts. RESULTS: UBM can clearly differentiate two types of cyst, with results similar to histological slice examination. UBM slices of iris edge cysts show small cellular parietal groups with stromal echogenicity, with no visible tissular continuity. The stromal cyst has no particularity and no echogenicity. DISCUSSION: The pupillary type of pigment epithelial cyst was generally recognized very early. The great majority of primary iris cysts, particularly those that arise from the iris pigment epithelial layers, are stable lesions that rarely progress or cause visual complications. Their slow progression could be explained by embryological history. Based on a comparison between the aspects of the two observations, the absence of enlargement of the cyst could be explained by the developmental mechanism. CONCLUSION: The advantage of the UBM in diagnosis is confirmed for very young patients, but also in developmental investigations. These case reports also corroborate the migration cellular theory during eye development to explain the appearance of the pupillary type of pigment epithelial cyst.

[Congenital cataract: general review]. / Cataracte congénitale.

Cataract is a loss of lens transparency because of a protein alteration. Etiopathogenesis is poorly understood but new mutations of different developmental genes involved are found in 25% of cases. Frequency of onset, particularly when different ocular development anomalies occur, is related to the lens induction phenomena on the eye's anterior segment structure during embryologic development. Genetic transmission is often found on the dominant autosomal mode. Diagnosis is based on a complete and detailed examination of the eye, often with general anaesthesia. This condition predisposes children to later, sometimes serious amblyopia. Different clinical aspects can be observed: from cataract with ocular and/or systemic anomalies to polymalformative syndrome, skeletal, dermatological, neurological, metabolic, and genetic or chromosomal diseases. A general systematic pediatric examination is necessary. Congenital cataract requires first and foremost early diagnosis and a search for all etiologies. Surgical treatment is adapted case by case but it has progressed with the quality of today's intraocular lenses even if systematic implantation continues to be debated. Life-long monitoring is absolutely necessary.

[Perforating ocular injuries in children: a retrospective study of 57 cases]. / Traumatismes oculaires perforants de l'enfant: étude rétrospective de 57 cas.

PURPOSE: The purpose of this study was to investigate the current causes and outcomes of open eye injuries in children. PATIENTS AND METHODS: We reviewed the hospital records of 57 patients under 14 years of age who were treated for open globe injuries at Edouard Herriot Hospital, Lyon, France, between January 1999 and December 2003. RESULTS: This review includes 57 patients: 41 males and 16 females. The mean age at admission was 6.8 +/- 3.5 years. The injury involved the right eye in 27 cases and the left eye in 30 cases. Sharp or pointed objects accounted for the majority of injuries. The most common location for a perforating ocular injury to occur was at home. Wounds involved the cornea in 41 cases. There was iris hernia in 21 cases, hyphema in 15 cases, vitreous prolapse in 14 cases, lens damage in 12 cases, and shallow anterior chamber in 11 cases. The most frequent complication was traumatic cataract. Secondary lens removal was performed in 15 cases. Visual acuity was 0.5 or better in 27 of the 57 eyes, with a mean follow-up period of 12 months. CONCLUSIONS: Perforating ocular injuries are a frequent cause of unilateral visual loss. The highest proportion of injuries occurred at home and sharp objects were the most frequent causative agents. More adequate adult supervision and educational measures are necessary in order to reduce the prevalence of these accidents.

[Conjunctival tumors in children. A histopathologic study of 42 cases]. / Tumeurs de la conjonctive bulbaire de l'enfant. Résultats de l'examen histologique de 42 lésions opérées.

PURPOSE: The aim of this study was to describe the clinicopathological characteristics of 42 conjunctival tumors surgically removed in children. PATIENTS AND METHODS: Records of all conjunctival tumors surgically removed in children during the 11-year period 1990-2001 were collected from the records of the Department of Ophthalmology, Edouard Herriot Hospital, Lyon. In all cases, the tumor was resected with no additional treatment. Sections of all cases were reviewed by the same pathologist. RESULTS: A total of 42 cases (40 patients) were included in the study. The mean age of the subjects at the time of surgical excision was 10 years, with a range of 1-17 years; 45% were male. The most frequent indication for tumor removal was suspected growth. The clinical diagnosis was accurate in 91% of cases. The tumor was localized at the limbus in 57% of cases. Most tumors were pigmented nevi, accounting for 83% of the lesions. The histopathological diagnoses in decreasing order of frequency were: nevi (35), angioma (2), dermolipoma (2), dermoid (1), papilloma (1), and squamous cell carcinoma (1). In one case, the histological study revealed squamous cell carcinoma in a child suffering from xeroderma pigmentosum. CONCLUSIONS: This retrospective study suggests that malignancy of pigmented conjunctival lesions is extremely rare in children. Although squamous cell carcinoma is rare in children, surgical excision and histological study are necessary when a conjunctival lesion is associated with xeroderma pigmentosum or immunodeficiency.

Coats' disease and bilateral cataract in a child with Turner syndrome: a case report.

PURPOSE: To report the first case in which Coats' disease was observed with infantile cataract in a girl with Turner syndrome (TS). MATERIALS AND METHODS: We examined a 4-year-old female infant with TS who was referred with a diagnosis of leukocoria in the left eye. RESULTS AND DISCUSSION: Examination under anaesthesia revealed a bilateral punctate cataract and left eye fundus showed vascular retinal abnormalities typical of Coats' disease. Cryotherapy was performed on the telangiectatic vessels and the child was followed up for a period of 12 months. Despite cryotherapy resulting in regression of the peripheral exudates, an exudative maculopathy persisted with poor visual outcome. We suggest that Coats' disease should be considered as a rare ocular manifestation in TS.

Toxic effects of indocyanine green, infracyanine green, and trypan blue on the human retinal pigmented epithelium.

BACKGROUND: Indocyanine green, infracyanine green, and trypan blue are frequently used as aids to visualize structures removed during vitreoretinal surgery. But they may have toxic effects on the retina. We therefore compared the acute and chronic toxicities of these stains on cultured human retinal pigmented epithelial (RPE) cells using clinically relevant concentrations and an identical experimental setup for each agent. METHODS: Monolayers of RPE cells were incubated with various concentrations of indocyanine green, infracyanine green (each at 0.005%, 0.05%, and 0.5%) or trypan blue (0.05%, 0.06%, 0.1%, 0.15%, and 0.5%) for 5 min (acute exposure) or 6 days (chronic exposure). Using the propidium iodide assay, acute cytotoxicity was monitored at 15-min intervals for up to 3 h. Chronic cytotoxicity was assessed by monitoring cell calcein esterase activity, cell proliferation, and cell morphology (viability) after 6 days of exposure. RESULTS: Indocyanine and infracyanine green induced acute and chronic toxicities at a concentration above 0.05%. Trypan blue evoked no acute toxicity, but it was chronically cytotoxic at all tested concentrations. CONCLUSIONS: Despite thorough rinsing after application, significant amounts of the not sufficiently water soluble indocyanine and infracyanine green are retained after surgery by the eye. Trypan blue, being more water-soluble than ICG, is probably retained to the least degree. This circumstance is fortunate given that trypan blue exhibits a chronic cytotoxicity comparable to ICG at all clinically relevant concentrations. During vitrectomy, surgeons should aim to expose retinal tissue to only low concentrations of these stains and for as short a period as possible.

[Retinopathy of prematurity. Results of fundus examination performed in 94 preterm infants]. / Rétinopathie du prématuré: résultats de l'examen du fond d'oeil chez 94 enfants à risque.

PURPOSE: The purpose of this study was to evaluate the incidence and severity of retinopathy of prematurity (ROP) in infants of birth weight less than 1.500 g and/or under 32 weeks'gestation. METHODS: Ninety-four preterm infants were examined following the Royal College of Ophthalmologists guidelines and retinopathy was graded using the International Classification of ROP. Screening limits were 1 500 g birth weight or 32 weeks'gestational age. Fundus examinations for ROP were performed at 5 weeks'chronological age from birth. Pupil dilation was obtained with instillation of 1% tropicamide three times at 15-minute intervals. RESULTS: The 94 infants examined for ROP had a median gestational age of 292.3 weeks and a median birth weight of 1 110340 g. ROP was diagnosed in 21 of 94 subjects (22.3%) by fundus examination. ROP stage 3 developed in one preterm infant, ROP stage 2 developed in five preterm infants, and ROP stage 1 developed in 15 preterm infants. No premature babies developed stage 4 or stage 5 ROP. The disease regressed spontaneously in all cases and none of the infants required cryo/laser therapy. In the most premature infants, 23-26 weeks'gestation, 57% developed ROP and one developed severe ROP (stage 3). No disease more posterior to peripheral zone 2 was observed. The incidence of ROP was higher in infants exposed to greater than 21% oxygen (24.2%) than in infants who did not receive oxygen (17.8%). Oxygen, blood transfusion, and cardiopathy appear to be associated with an increased incidence of retinopathy of prematurity. CONCLUSIONS: ROP continues to be a common problem associated with prematurity in France. This study found a similar incidence of prethreshold ROP when compared to recent studies. The data showed that blood transfusion and cardiopathy may play a role in the development of ROP in premature infants.

[The genetics of hereditary cataract]. / Transmission génétique de la cataracte congénitale.

Congenital cataracts are an important cause of visual impairment in children. Approximately one-third of congenital cataracts are hereditary. The disease, when inherited as an isolated abnormality, is phenotypically and genetically heterogeneous. Autosomal dominant forms with high penetrance appear to be the most common. To date, thirteen genes have been implicated in cataractogenesis. The identification of the genetic mutations causing congenital cataracts will provide a better understanding of cataractogenesis in childhood and provide further insights into normal lens development.

[Persistent hyperplastic primary vitreous syndrome in a girl with Aicardi syndrome]. / Syndrome de persistance et d'hyperplasie du vitré primitif chez une fille présentant un syndrome d'Aicardi.

Aicardi syndrome is characterized by infantile spasms, agenesis of the corpus callosum and chorioretinal lacunae. This disorder affects mostly females with early embryonic lethality in males. We present a case of persistent hyperplastic primary vitreous (PHPV) in association with Aicardi syndrome in a 2-year-old girl.