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A five-year-old boy presented with bilateral acute proptosis, papilledema, and sub-retinal fluid. Notably, choroidal thickening exceeded 600 microns. These ocular findings were the initial manifestations of acute lymphoblastic leukemia. This case underscores the importance of recognizing uncommon ocular presentations in pediatric leukemia for timely diagnosis and management.
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Maus-Tratos Infantis , Traumatismos Craniocerebrais , Humanos , Lactente , Maus-Tratos Infantis/diagnóstico , Maus-Tratos Infantis/prevenção & controle , Traumatismos Craniocerebrais/diagnóstico , Criança , Pré-Escolar , Traumatismos Oculares/diagnóstico , Traumatismos Oculares/terapia , Oftalmologia/normas , Reino Unido , Recém-NascidoRESUMO
Non-traumatic ectopia lentis can be isolated or herald an underlying multisystemic disorder. Technological advances have revolutionized genetic testing for many ophthalmic disorders, and this study aims to provide insights into the clinical utility of genetic analysis in paediatric ectopia lentis. Children that underwent lens extraction for ectopia lentis between 2013 and 2017 were identified, and gene panel testing findings and surgical outcomes were collected. Overall, 10/11 cases received a probable molecular diagnosis. Genetic variants were identified in four genes: FBN1 (associated with Marfan syndrome and cardiovascular complications; n = 6), ADAMTSL4 (associated with non-syndromic ectopia lentis; n = 2), LTBP2 (n = 1) and ASPH (n = 1). Parents appeared unaffected in 6/11 cases; the initial presentation of all six of these children was to an ophthalmologist, and only 2/6 had FBN1 variants. Notably, 4/11 cases required surgery before the age of 4 years, and only one of these children carried an FBN1 variant. In summary, in this retrospective cohort study, panel-based genetic testing pointed to a molecular diagnosis in >90% of paediatric ectopia lentis cases requiring surgery. In a subset of study participants, genetic analysis revealed changes in genes that have not been linked to extraocular manifestations and highlighted that extensive systemic investigations were not required in these individuals. We propose the introduction of genetic testing early in the diagnostic pathway in children with ectopia lentis.
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Ectopia do Cristalino , Cristalino , Síndrome de Marfan , Humanos , Criança , Pré-Escolar , Ectopia do Cristalino/genética , Ectopia do Cristalino/cirurgia , Estudos Retrospectivos , Testes Genéticos , Síndrome de Marfan/diagnóstico , Síndrome de Marfan/genética , Síndrome de Marfan/cirurgia , Proteínas de Ligação a TGF-beta Latente/genéticaRESUMO
PURPOSE: The purpose of this study was to assess the suitability of corneal densitometry measurements obtained with Scheimpflug imaging in estimating the corneal changes caused by cystine deposits in the cornea in patients with cystinosis. METHODS: Scheimpflug imaging (Pentacam) was performed for 14 patients with cystinosis and 16 age-matched controls. Pentacam data were used for analysis of the corneal densitometry at different zones in the cornea for patients with cystinosis and controls. Densitometry measurements were compared with the corneal crystal scores obtained from the slitlamp images for patients with cystinosis. RESULTS: There was no statistically significant difference in keratometry measurements between the 2 groups ( P > 0.05). Corneal thickness was found to be significantly higher in the control group when compared with the cystinosis group ( P = 0.0004). The mean corneal densitometry was significantly higher in patients with cystinosis when compared with controls at most of the corneal layers and zones. The corneal densitometry readings for the right and left eyes showed moderate positive correlation with the corneal crystal score with a ceiling effect being reached at the maximum corneal crystal score of 3. CONCLUSIONS: Corneal densitometry obtained through Pentacam can be used as an objective estimate of the level of cystine crystals present in patients with cystinosis. The clinical estimate of corneal crystal score, although effective at low levels of crystal deposition, does not allow for accurate estimates of change when the level of crystal deposition is high leading to limited utility when assessing treatment effects. Hence, densitometry measurements can potentially be used to assess treatment efficacy of cystinosis treatments in clinical settings.
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Cistina , Cistinose , Humanos , Cistina/uso terapêutico , Cistinose/diagnóstico , Cistinose/tratamento farmacológico , Córnea , Resultado do Tratamento , Densitometria , Topografia da CórneaRESUMO
An 8-year-old girl with known pathogenic variant in the PRRT2 gene causing paroxysmal kinesigenic dyskinesia with infantile convulsions presented with bilateral papilledema and abducens nerve palsy, which was subsequently confirmed to be pseudotumor cerebri syndrome (PTCS). She was treated with acetazolamide and recovered baseline vision, with some residual papilledema. PTCS is not confirmed to be associated with pathogenic variants in the PRRT2 gene; however, this case in conjunction with a previously reported case of PTCS and unilateral abducens nerve palsy in a patient with PRRT2 variants, raises the possibility that PTCS is part of the phenotypic spectrum rather than being a coincidental occurrence.
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Doenças do Nervo Abducente , Papiledema , Pseudotumor Cerebral , Doenças do Nervo Abducente/etiologia , Doenças do Nervo Abducente/genética , Criança , Feminino , Humanos , Proteínas de Membrana/genética , Proteínas do Tecido Nervoso/genética , Papiledema/diagnóstico , Papiledema/etiologia , Pseudotumor Cerebral/complicações , Pseudotumor Cerebral/diagnóstico , Pseudotumor Cerebral/tratamento farmacológicoRESUMO
PURPOSE: To analyze if Segmented Swept-Source Optical Coherence Tomography Angiography (SS OCT-A) can provide additional information on morphology and pathophysiology of macular fibrosis in Coats' patients. METHODS: A consecutive case series of three male patients (5, 7 and 15 years old), with Coats' disease-related macular fibrosis (stage 2b-2 patients, 3b-1 patient). SS OCT-A 3×3 mm macular scans of affected eyes were performed. RESULTS: In all three cases the inner portion of macular fibrosis displayed a dense network of vessels, continuing into deeper layers. This structure was similar to that observed in retinal angiomatous proliferations (RAP). There was associated loss of the foveal avascular zone. In one case we observed evolution of the lesion. CONCLUSION: SS-OCT imaging of macular fibrosis in Coats' disease reveals a distinct intralesional vascular structure with elements resembling RAP, probably developing as a secondary process.
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Macula Lutea , Telangiectasia Retiniana , Adolescente , Criança , Fibrose , Angiofluoresceinografia , Humanos , Macula Lutea/patologia , Masculino , Telangiectasia Retiniana/diagnóstico , Vasos Retinianos/diagnóstico por imagem , Vasos Retinianos/patologia , Tomografia de Coerência ÓpticaRESUMO
INTRODUCTION: Infantile nephropathic cystinosis (INC) is an autosomal recessive lysosomal disorder in which patients develop deposits of cystine crystals in their kidneys and corneas from a young age. METHODS: We conducted a retrospective analysis of children with INC seen by ophthalmologists at the Manchester Royal Eye Hospital between 2002 and 2018, to evaluate clinical findings, symptoms and treatment. RESULTS: Twenty-two children diagnosed with INC from age 0 (prenatally) to 11 years were assessed. All evaluable patients had corneal cystine crystal deposits, and 15 had mild to moderate photophobia. Ten patients had other ocular conditions including blepharitis/chalzion (n = 6), swollen optic nerve (n = 3), punctate epitheliopathy (n = 3), corneal scarring (n = 1),and elevated intraocular pressure (n = 2). Confocal imaging identified nerve abnormalities in two patients (enlarged corneal nerve + abnormal-looking tortuous nerves in one patient and beaded nerves in the sub-basal plexus in the other), both of whom had significant crystal deposition in the anterior stroma. Visual acuity was relatively unaffected. All 22 patients were receiving oral cysteamine, and 21 were applying cysteamine eye drops (galenic preparation of 0.55% concentration, compounded by a hospital pharmacy). Recommended application frequency was at least eight times per day in all patients with dosing information available. CONCLUSIONS: This case series of patients with INC highlights the consistent pattern of corneal cystine crystal deposition, which is universally present from a young age in this condition, and the high incidence of photophobia even in young children. Corneal manifestations of INC persisted despite frequent administration of the hospital pharmacy-made eye drop preparation. Reasons for this lack of efficacy may include the lag period between diagnosis and first prescription of cysteamine eye drops and the difficulty in maintaining rigorous compliance with this treatment. In addition, the challenge for patients of maintaining optimal storage conditions may adversely affect the stability and efficacy of cysteamine within this preparation. FUNDING: Editorial assistance was funded by Orphan Europe Ltd.
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Cystinosis, a rare autosomal recessive disease caused by intracellular cystine accumulation, occurs in an estimated 1/100,000-200,000 live births. Ocular non-nephropathic cystinosis is typically diagnosed during adulthood, when patients present with corneal crystal deposition and no systemic involvement. Due to the rarity of the condition, diagnosis is often delayed and can have a significant impact on the overall prognosis of the disease. Early diagnosis is therefore imperative to ensure successful treatment and improve quality of life, as most of its clinical manifestations can be prevented or delayed. Early detection strategies and practical approaches for the ocular management of cystinosis were discussed during the Ophthalmology Cystinosis Forum, a 1-day meeting held in Berlin, Germany during June 2017. Recommendations for early detection comprise ophthalmic assessment, including self- and clinician-assessed recording of photophobia, and visual acuity, slit-lamp examination and tonometry ophthalmic examinations. In vivo confocal microscopy and anterior segment optical coherence tomography were highlighted as valuable techniques in evaluating cystine crystals in the cornea, in vivo and non-invasively. The mainstay of ocular cystinosis treatment is the cystine-depleting aminothiol cysteamine. Indeed, early treatment with and strict adherence to cysteamine therapy has a considerable impact on the long-term prognosis of ocular cystinosis. In rare diseases such as ocular cystinosis, standardised guidelines and recommendations for detection, patient care and follow-up assessments are essential. Such guidelines provide a support tool for healthcare professionals caring for ocular cystinosis patients. Multidisciplinary teams (MDTs) are essential for delivering gold standard care and improving quality of life for patients and their families. This review paper highlights current early detection policies, clinical treatment strategies and practical approaches for the ocular management of cystinosis, including implementing a cystinosis MDT. Additionally, discussions of the Ophthalmology Cystinosis Forum held in 2017 are summarised. FUNDING: Orphan Europe. Plain language summary available for this article.
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PURPOSE: To describe perifoveal microvascular changes occurring in X-linked juvenile retinoschisis (XLRS) using swept source optical coherence tomography angiography (SS OCTA). PATIENTS AND METHODS: This is a serial case report of three patients. Retrospective data of patients affected by XLRS were collected. Structural optical coherence tomography (OCT) and color fundus photography (CFPh) were carried out with Topcon® OCT 2000 3D OCT as part of the standard care. Two patients were imaged on Topcon Atlantis® SS OCTA and one on Topcon Triton® SS OCTA. SS OCTA images were acquired using the 3 × 3 mm fovea-centered cubes scanning protocol. Analysis of both perifoveal superficial vascular plexus (pSVP) and perifoveal deep vascular plexus (pDVP) was performed by two observers after automated segmentation. RESULTS: Four eyes of three males (mean age 14 ± 3.8 years) were analyzed. All eyes showed foveoschisis on CFPh images. OCT B-scans of three eyes showed schistic cysts in the ganglion cell layer, inner nuclear layer (INL) and outer nuclear layer (ONL); in one eye, cysts were depicted in INL and ONL only. In two eyes, SS OCTA showed abnormal foveal avascular zone (FAZ) shape in the pSVP, and in the other two, FAZ shape was abnormal in both plexuses. In all eyes, retinal vascular abnormalities (ie, microvascular protrusions) were present in pDVP. CONCLUSION: SS OCTA can depict perifoveal microvascular changes in young patients affected by XLRS. In this study, the structural and vascular changes seem to be more evident in the pDVP and may represent a useful biomarker of prognosis.
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PURPOSE: To determine whether corneal tomography can help predict the risk of progression of keratoconus in children. METHODS: The medical records of pediatric patients with keratoconus presenting to a large tertiary institution in the UK from 2009 to 2014 were reviewed retrospectively. Patients underwent serial clinical examination and corneal tomography. The minimum follow-up period was 5 months. Patients with a history of eye surgery including corneal crosslinking were excluded. The following tomographic parameters were analyzed: thinnest corneal thickness (TCT), average central corneal keratometry (Km), and maximum central posterior elevation (MCPE). The rate of progressive corneal thinning, in µm/month, was calculated as the difference between TCT on presentation and at the most recent visit divided by the time in months. RESULTS: A total of 36 eyes of 19 patients (10-16 years of age) were included. Mean follow-up was 19 months (range, 5-30 months). Six eyes (17%) developed corneal scarring and 1 eye (3%) developed acute hydrops. Of the 29 eyes that did not develop corneal scarring or hydrops, 24 (83%) demonstrated progressive corneal thinning over the period of the study. Eyes with TCT of <450 µm, Km above 50 D, and MCPE above 50 µm at presentation demonstrated the highest rates of progressive corneal thinning over the study period. CONCLUSIONS: In pediatric keratoconus, lower TCT, higher Km, and higher MCPE on corneal tomography seem to be risk factors for faster rates of progressive corneal thinning.
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Córnea/patologia , Topografia da Córnea , Ceratocone/patologia , Criança , Colágeno , Progressão da Doença , Feminino , Humanos , Masculino , Fármacos Fotossensibilizantes , Estudos Retrospectivos , Fatores de RiscoRESUMO
PURPOSE: To evaluate the safety and efficacy of combined transscleral drainage of subretinal fluid (SRF) with intravitreal bevacizumab and laser photocoagulation in the management of advanced Coats disease (Stage 3) with exudative retinal detachment. DESIGN: Retrospective interventional case series. METHODS: Retrospective case review of eight eyes in eight children with advanced Coats disease manifested as total or subtotal retinal detachment. All eyes initially underwent surgical drainage of exudative SRF followed by intravitreal injection of bevacizumab and laser photocoagulation. Patients were subsequently followed up for up to 60 months. RESULTS: In all eyes, after SRF drainage and administration of one to two intravitreal injections, SRF was completely eliminated. Patients required up to four sessions of laser photocoagulation. Retinal detachment consequently reduced with all patients showing total retinal reattachment and resolution of the subretinal exudates. At the last follow-up, no patient showed recurrent SRF and no ocular complications related to bevacizumab nor evidence of further disease progression were noted. CONCLUSION: The authors present a new therapeutic approach that allows for the first time successful treatment of advanced cases of exudative retinal detachment in Coats disease without the need for vitrectomy. Transscleral drainage of SRF accompanied by anti-vascular endothelial growth factor injection and laser photocoagulation appears to be successful in halting progression of advanced Coats disease with exudative detachment and a less invasive approach when compared with conventional management.
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Inibidores da Angiogênese/uso terapêutico , Fotocoagulação a Laser/métodos , Descolamento Retiniano/terapia , Telangiectasia Retiniana/terapia , Líquido Sub-Retiniano , Sucção/métodos , Criança , Pré-Escolar , Terapia Combinada , Feminino , Humanos , Injeções Intravítreas , Masculino , Estudos Retrospectivos , Cirurgia Assistida por Computador , Fator A de Crescimento do Endotélio Vascular/antagonistas & inibidoresRESUMO
The authors report a new, non-invasive diagnostic method in the diagnosis of retinal cavernous hemangioma (RCH). A 6-year-old girl was referred for a non-clearing retinal hemorrhage of 6 months' duration. Fourier-domain optical coherence tomography (FD-OCT) showed an intraretinal lesion with cystic-like internal appearance. Optical shadowing was present, preventing establishment of any subretinal component to the lesion. Swept-source OCT (SS-OCT) showed an intraretinal lesion consisting of a group of clearly defined grape-like caverns with overlying preretinal tissue. Wide-field fundus fluorescein angiography (WF-FFA) confirmed the diagnosis of RCH. SS-OCT was superior to FD-OCT in showing the internal anatomy of the RCH and allowing for the measurement of its structures, confirming the intraretinal location of the lesion and the presence of an associated preretinal tissue. SS-OCT may assist in cases in which hemorrhage prevents an accurate diagnosis by ophthalmoscopy or angiography, thus becoming an alternative imaging method to confirm the diagnosis of RCH while avoiding the risks of fluorescein angiography in children.
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Hemangioma Cavernoso/diagnóstico , Neoplasias da Retina/diagnóstico , Tomografia de Coerência Óptica , Criança , Feminino , Angiofluoresceinografia , Análise de Fourier , Hemangioma Cavernoso/fisiopatologia , Humanos , Hemorragia Retiniana/diagnóstico , Hemorragia Retiniana/fisiopatologia , Neoplasias da Retina/fisiopatologia , Acuidade Visual/fisiologiaRESUMO
Leber hereditary optic neuropathy and autosomal dominant optic atrophy are the two most common inherited optic neuropathies. The latter has been associated with mutations in the OPA1 and OPA3 genes. To date, only six families with OPA3-associated dominant optic atrophy have been reported. In order to identify additional families, we performed Sanger sequencing of the OPA3 gene in 75 unrelated optic neuropathy patients. Affected individuals from two families were found to harbour the c.313C > G, p.(Gln105Glu) change in heterozygous state; this genetic defect has been previously reported in four dominant optic atrophy families. Intra- and interfamilial variability in age of onset and presenting symptoms was observed. Although dominant OPA3 mutations are typically associated with optic atrophy and cataracts, the former can be observed in isolation; we report a case with no lens opacities at age 38. Conversely, it is important to consider OPA3-related disease in individuals with bilateral infantile-onset cataracts and to assess optic nerve health in those whose vision fail to improve following lens surgery. The papillomacular bundle is primarily affected and vision is typically worse than 20/40. Notably, we describe one subject who retained normal acuities into the fifth decade of life. The condition can be associated with extraocular clinical features: two affected individuals in the present study had sensorineural hearing loss. The clinical heterogeneity observed in the individuals reported here (all having the same genetic defect in OPA3) suggests that the molecular pathology of the disorder is likely to be complex.
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Mutação , Atrofia Óptica Autossômica Dominante/diagnóstico , Atrofia Óptica Autossômica Dominante/genética , Proteínas/genética , Adulto , Idoso , Análise Mutacional de DNA , Feminino , Genes Dominantes , Humanos , Masculino , Pessoa de Meia-Idade , Disco Óptico/patologia , Linhagem , Acuidade Visual/genética , Adulto JovemRESUMO
Congenital cataract is the commonest worldwide cause of lifelong visual loss in children. Although congenital cataracts have a diverse aetiology, in many children, a cause is not identified; however, autosomal dominant inheritance is commonly seen. Early diagnosis either on the post-natal ward or in the community is important because appropriate intervention can result in good levels of visual function. However, visual outcome is largely dependent on the timing of surgery when dense cataracts are present. Good outcomes have been reported in children undergoing surgery before 6 weeks of age in children with unilateral cataract and before 10 weeks of age in bilateral cases. Placement of an artificial intraocular lens implant after removal of the cataract has become established practice in children over 2 years of age. There remains debate over the safety and predictability of intraocular lens implantation in infants. Despite early surgery and aggressive optical rehabilitation, children may still develop deprivation amblyopia, nystagmus, strabismus, and glaucoma. The diagnosis and management of congenital cataracts has improved substantially over the past 30 years with a concurrent improvement in outcomes for affected children. Many aspects of the pre-, intra-, and postoperative management of these patients continue to be refined, highlighting the need for good quality data and prospective collaborative studies in this field.
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Catarata/terapia , Ambliopia/prevenção & controle , Ambliopia/terapia , Catarata/complicações , Catarata/congênito , Catarata/etiologia , Humanos , Implante de Lente Intraocular , Pseudofacia , Acuidade VisualRESUMO
PURPOSE: To explore the role of intralesional steroid injections (ILSI) and oral steroids in the management of periocular hemangioma of infancy (HOI). METHODS: In this retrospective study, treatment options studied were observation, ILSI, and oral steroids. All children received adjunctive amblyopia treatment if required. The main indications for treatment were cosmetic, worsening astigmatism, and visual axis obscuration. Success was defined as complete HOI regression before the age of 5 years (cosmetic group), reduction of astigmatism of at least 1 diopter cylinder (DC) (astigmatism group), or no evidence of amblyopia at the last follow-up (visual axis obscuration group). RESULTS: Twenty-four of 41 children (58.5%) had amblyopia at presentation. Eighteen children formed the observation group, 17 children received ILSI, and 6 children received oral steroids. Successful outcome was achieved in all except 2 patients in the cosmetic group and 6 of 7 in the visual axis obscuration group. Mean astigmatic correction of all cases was 1.65 ± 1.34 DC before treatment and 0.91 ± 1.17 DC after treatment, the change being statistically significant (P < .001). CONCLUSION: Observation appears to be a highly effective strategy if coupled with amblyopia therapy, especially for mild cases. Intralesional and oral steroids appear to be equally effective for lesions requiring treatment, but their exact role cannot be clearly determined in the presence of a spontaneously resolving lesion.
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Ambliopia , Hemangioma Capilar , Ambliopia/terapia , Astigmatismo , Hemangioma Capilar/tratamento farmacológico , Humanos , Injeções Intralesionais , Estudos RetrospectivosRESUMO
BACKGROUND: To describe our experience of combined trabeculotomy-trabeculectomy in paediatric glaucomas with a special emphasis on the use of 5-fluorouracil and releasable sutures. DESIGN: Retrospective review carried out at Manchester Royal Eye Hospital, UK, a tertiary referral centre. PARTICIPANTS: Twenty-nine eyes of 21 consecutive patients with congenital glaucoma undergoing combined trabeculotomy-trabeculectomy augmented with 5-fluorouracil. METHODS: 5-Fluorouracil augmented combined trabeculotomy-trabeculectomy was carried out with intense postoperative management and suture adjustment of releasable sutures within the first 3 weeks after surgery. Peribleb 5-fluorouracil injections were given repeatedly if there were signs of aggressive bleb scarring. MAIN OUTCOME MEASURES: Absolute success was defined as intraocular pressure of 21 mmHg or less, clear cornea and absence of progressive glaucomatous optic disc changes at last follow up, whereas qualified success was defined as these endpoints with anti-glaucoma medication. RESULTS: Absolute success was achieved in 19 out of 29 eyes (65.5%), and a further 4 (13.8%) had qualified success. There was no difference in the surgical outcomes of primary infantile glaucoma and secondary causes of paediatric glaucoma such as anterior segment dysgenesis. Combined trabeculotomy-trabeculectomy had a significantly greater success rate as a secondary procedure rather than as a primary procedure. CONCLUSION: 5-Fluorouracil-enhanced combined trabeculotomy-trabeculectomy with releasable sutures appears to be an effective procedure for congenital glaucoma refractory to goniotomy. It is less effective as a primary procedure when severe corneal haze prevents goniotomy in newborn congenital glaucoma. Intense postoperative monitoring including active bleb manipulation with needling and 5-fluorouracil injections may increase the success of the procedure.
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Alquilantes/administração & dosagem , Fluoruracila/administração & dosagem , Hidroftalmia/terapia , Trabeculectomia , Criança , Pré-Escolar , Terapia Combinada , Feminino , Humanos , Hidroftalmia/fisiopatologia , Lactente , Recém-Nascido , Pressão Intraocular/fisiologia , Masculino , Estudos Retrospectivos , Técnicas de Sutura , Resultado do TratamentoRESUMO
PURPOSE: To determine optimal timing for operating on dense bilateral congenital cataracts and to define latent periods for binocular visual deprivation. METHODS: A retrospective review of the records of children that had undergone bilateral lensectomies at our center. Infants with bilateral, dense, visually significant cataracts who had undergone lensectomy within the first year of life from 1992 to 2000 were identified. Children with other ocular anomalies, neurological and systemic disorders, intraocular lenses, or with fewer than 5 years of follow-up were excluded. RESULTS: A total of 13 children were identified. The mean age at surgery was 8.7 weeks (range, 3-20; SD 5.3). The mean interval between surgeries of the 2 eyes was 3.8 days (range 0-7; SD 3.2). The median final visual acuity at 5 years of age was 6/18 (range, 6/5-6/36). There was a moderate correlation between (log) visual outcome and time to surgery (r = -0.59, p = 0.002, r(2) = 0.35). CONCLUSIONS: Visual acuity after surgery for bilateral congenital cataracts appears to decline exponentially with duration of visual deprivation.