RESUMO
We report a case of torsional diplopia caused by presumed torsional anomalous retinal correspondence after myectomy of previously asymmetrically anteriorized inferior oblique muscles for inferior oblique overaction. Given this patient's experience, it may be prudent to operate with caution on previously anteriorized inferior oblique muscles, especially when anteriorization is performed at a very young age.
Assuntos
Doenças Musculares , Transtornos da Motilidade Ocular , Estrabismo , Criança , Humanos , Músculos Oculomotores/cirurgia , Resultado do Tratamento , Estudos Retrospectivos , Transtornos da Motilidade Ocular/etiologia , Transtornos da Motilidade Ocular/cirurgia , Estrabismo/etiologia , Estrabismo/cirurgia , Procedimentos Cirúrgicos OftalmológicosRESUMO
BACKGROUND: Optic nerve hypoplasia (ONH), the leading congenital cause of permanent blindness, is characterized by a retinal ganglion cell (RGC) deficit at birth. Multifactorial developmental events are hypothesized to underlie ONH and its frequently associated neurologic and endocrine abnormalities; however, environmental influences are unclear and genetic underpinnings are unexplored. This work investigates the genetic contribution to ONH RGC production and gene expression using patient induced pluripotent stem cell (iPSC)-derived retinal organoids (ROs). MATERIALS AND METHODS: iPSCs produced from ONH patients and controls were differentiated to ROs. RGC genesis was assessed using immunofluorescence and flow cytometry. Flow-sorted BRN3+ cells were collected for RNA extraction for RNA-Sequencing. Differential gene expression was assessed using DESeq2 and edgeR. PANTHER was employed to identify statistically over-represented ontologies among the differentially expressed genes (DEGs). DEGs of high interest to ONH were distinguished by assessing function, mutational constraint, and prior identification in ONH, autism and neurodevelopmental disorder (NDD) studies. RESULTS: RGC genesis and survival were similar in ONH and control ROs. Differential expression of 70 genes was identified in both DESeq2 and edgeR analyses, representing a ~ 4-fold higher percentage of DEGs than in randomized study participants. DEGs showed trends towards over-representation of validated NDD genes and ONH exome variant genes. Among the DEGs, RAPGEF4 and DMD had the greatest number of disease-relevant features. CONCLUSIONS: ONH genetic background was not associated with impaired RGC genesis but was associated with DEGs exhibiting disease contribution potential. This constitutes some of the first evidence of a genetic contribution to ONH.
Assuntos
Células-Tronco Pluripotentes Induzidas , Hipoplasia do Nervo Óptico , Recém-Nascido , Humanos , Células Ganglionares da Retina , Hipoplasia do Nervo Óptico/genética , Espécies Reativas de Oxigênio , Expressão Gênica , RNA , Fatores de Troca do Nucleotídeo Guanina/genéticaRESUMO
PURPOSE: To compare eye tracking and Teller acuity cards (TAC) for assessment of visual acuity in children with cortical, or cerebral, visual impairment (CVI). DESIGN: Reliability and validity study. METHODS: We recruited 41 children with CVI from a single academic pediatric neuro-ophthalmology clinic. All children performed eye tracking to measure visual acuity, and 26 children completed TAC assessment by a masked examiner. Additionally, 2 pediatric neuro-ophthalmologists graded visual behavior using the 6-level Visual Behavior Scale (VBS). Eye tracking and TAC were performed at baseline and at 1 month. Test-retest reliability of eye tracking and TAC were assessed using the intraclass correlation coefficient (ICC). Eye tracking and TAC visual acuities were correlated with one another and VBS scores using the Spearman correlation coefficient. RESULTS: Test-retest reliability was excellent for eye tracking measurement of visual acuity (ICC = 0.81, P < .0001). For pediatric CVI, TAC test-retest reliability was fair (ICC = 0.42, P = .04). There was a moderate correlation between eye tracking and TAC (r = 0.43, P = .03) and between TAC and VBS score (r = 0.50, P = .009), and a strong correlation between eye tracking grating acuity and VBS score (r = 0.72, P < .0001). CONCLUSIONS: In our cohort of children with CVI, grating acuity measured by eye tracking demonstrated higher test-retest reliability and stronger correlation with pediatric neuro-ophthalmologic assessment of visual behavior than Teller acuity. Objective determination of gaze direction by an eye tracking camera may be more accurate than human assessment in this population. Future research is needed to determine the optimal methods of longitudinal assessment of visual function and functional vision in children with CVI.
Assuntos
Encefalopatias , Tecnologia de Rastreamento Ocular , Humanos , Criança , Reprodutibilidade dos Testes , Acuidade Visual , Testes Visuais/métodos , Transtornos da Visão/diagnósticoRESUMO
BACKGROUND: Venous sinus stenosis has been implicated in intracranial hypertension and can lead to papilledema and blindness. The authors report the unique case of a cerebellar transtentorial lesion resulting in venous sinus stenosis in the torcula and bilateral transverse sinuses that underwent resection. OBSERVATIONS: A 5-year-old male presented with subacute vision loss and bilateral papilledema. Imaging demonstrated a lesion causing mass effect on the torcula/transverse sinuses and findings of increased intracranial pressure (ICP). A lumbar puncture confirmed elevated pressure, and the patient underwent bilateral optic nerve sheath fenestration. Cerebral angiography and venous manometry showed elevated venous sinus pressures suggestive of venous hypertension. The patient underwent a craniotomy and supracerebellar/infratentorial approach. A stalk emanating from the cerebellum through the tentorium was identified and divided. Postoperative magnetic resonance imaging showed decreased lesion size and improved sinus patency. Papilledema resolved and other findings of elevated ICP improved. Pathology was consistent with atrophic cerebellar cortex. Serial imaging over 6 months demonstrated progressive decrease in the lesion with concurrent improvements in sinus patency. LESSONS: Although uncommon, symptoms of intracranial hypertension in patients with venous sinus lesions should prompt additional workup ranging from dedicated venous imaging to assessments of ICP and venous manometry.
RESUMO
Purpose: To evaluate the effectiveness, tolerability, and safety of the Nictavi Tarsus Patch™ (NTP) in inducing temporary eyelid closure for the management of lagophthalmos in the pediatric and young adult population. Methods: We prospectively enrolled 20 patients <21 years of age who had previously been managed for lagophthalmos to trial the NTP in clinic. Inter-palpebral fissure distance (IPFD) was compared before and after the placement of the NTP in the eyes-closed position using paired t-tests. Subjects then underwent a 3-night home trial with the NTP, and parent and subject perceptions of effectiveness, comfort, and complications with the patch were analyzed using Likert scale survey questions. Results: Twenty subjects ages 2-20 years with paralytic (65%) and non-paralytic (35%) lagophthalmos were enrolled. The NTP improved lagophthalmos from a mean pre-placement IPFD of 3.3 mm to post-placement IPFD of 0.4 mm (p < 0.01). Overall, 80% of subjects achieved successful eyelid closure defined as ≤1 mm of post-placement IPFD. When stratified by subtype, 100% of subjects with paralytic lagophthalmos achieved successful eyelid closure compared to 71% of subjects with non-paralytic lagophthalmos. On a scale of 1 (worst) to 5 (best), parents rated the NTP at 4.3±0.7 for comfort while wearing, 4.3±1.0 for comfort in removing, 4.6±0.7 for ease of use, and 4.3±0.9 for effectiveness. Ninety-three percent of parents reported preferring NTP to other eyelid closure methods previously tried and indicated that they would use it again. Conclusion: The NTP is an effective, tolerable, and safe method of eyelid closure for children and young adults.
RESUMO
BACKGROUND: Optic nerve hypoplasia (ONH) is a birth defect of unknown etiology and a leading cause of visual impairment in developed countries. Recent studies suggest that factors of deprivation and exposures of poor nutritional status, such as lower gestational weight gain (GWG), may be associated with increased risk of ONH. The present study describes the prenatal features of mothers of ONH cases, including prepregnancy BMI and GWG, and the associations with clinical features of disease severity. METHODS: Retrospective study of prenatal records for cases of ONH enrolled in a research registry. Prepregnancy BMI and GWG were compared to maternal characteristics and clinical findings of ONH severity including bilaterality, hypopituitarism, and neuroradiographic abnormalities. RESULTS: Compared to population-based normative data of births in the United States, mothers of ONH cases (n = 55) were younger (23.3 vs. 25.8 years; p = 0.03), with higher incidence of inadequate GWG (34.0% vs. 20.4%; p = 0.03) predominantly in the first and second trimesters. The presence of major brain malformations was associated with younger maternal age (21.6 [IQR 19.4, 24.7] vs. 24.9 years [IQR 22.1, 28.5] [p = 0.02]), primiparity (44.1% vs. 13.3%; p = 0.05) and decreased prepregnancy BMI (20.9 kg/m2 [19, 22.5] vs. 25.5 kg/m2 [21.3, 28.2]; p < 0.01). CONCLUSION: Decreased prepregnancy BMI and inadequate GWG correlated with clinical features of ONH severity, specifically bilateral disease and presence of major brain malformations.
Assuntos
Ganho de Peso na Gestação , Malformações do Sistema Nervoso , Hipoplasia do Nervo Óptico , Gravidez , Feminino , Humanos , Estados Unidos , Aumento de Peso , Índice de Massa Corporal , Estudos RetrospectivosRESUMO
PURPOSE: To analyze demographic and ophthalmic data in patients with and without chorioretinal atrophy after voretigene neparvovec-rzyl (VN) to identify possible causes for this phenomenon. DESIGN: Retrospective cohort study with longitudinal follow-up. PARTICIPANTS: A total of 71 eyes of 38 patients aged 2 to 44 years with RPE65-mediated retinal dystrophy treated with VN across 2 large gene therapy centers in the United States and Germany. METHODS: Patients treated with VN who developed atrophy were compared with those who did not. MAIN OUTCOME MEASURES: Gender, age, surgical center, spherical equivalent refraction, best-corrected visual acuity (BCVA), baseline full-field scotopic threshold testing (FST), and posttreatment change in FST. RESULTS: A total of 20 eyes of 12 patients developed atrophy after treatment with VN (28% of all eyes). There was no significant difference in gender, age, surgical center, or spherical equivalent refraction between the atrophy group and the no atrophy group. However, patients between school age and young adulthood were predominantly affected, whereas the youngest and the oldest patients did not develop atrophy. Baseline BCVA was better in patients who developed atrophy than those who did not (P = 0.006). The postoperative improvement in FST at 1 month was significantly higher in the atrophy group than in the no atrophy group (P = 0.0005), and this difference remained statistically significant at 1 year (P = 0.0001). There was no correlation to baseline FST, to inflammation, or to which eye was treated first. CONCLUSIONS: The degree of FST improvement after VN appears to be strongly correlated with the development of VN-related chorioretinal atrophy. This finding raises the possibility that atrophy may develop as a toxic or metabolic sequela of vector-mediated RPE65 expression. In light of the expanding number of retinal gene therapy clinical trials, this complication warrants further study because it may not be limited to VN. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found after the references.
Assuntos
Refração Ocular , Distrofias Retinianas , Humanos , Adulto Jovem , Adulto , Acuidade Visual , Estudos Retrospectivos , Distrofias Retinianas/genética , Distrofias Retinianas/terapia , RetinaRESUMO
We report a series of three young patients (ages: 22 months, 2 years, and 5 years) who developed subretinal deposits at post-operative week one following subretinal voretigene neparvovec-rzyl treatment for RPE65-mediated retinal dystrophy. In the 5-year-old, subretinal deposits were also observed in the inferior periphery of both eyes. All three patients experienced improved visual function with treatment, and both the macular and inferior subretinal deposits have improved or resolved over the follow-up period. These findings may inform the delivery parameters and safety profile of AAV-based gene therapy as the number of retinal gene therapy trials continues to grow.
Assuntos
Retina , Distrofias Retinianas , Humanos , Lactente , Pré-Escolar , Distrofias Retinianas/genética , Distrofias Retinianas/terapia , Terapia Genética , Visão Ocular , cis-trans-Isomerases/genéticaAssuntos
Apraxias , Síndrome de Cogan , Doença de Huntington , Masculino , Humanos , Criança , Doença de Huntington/complicações , Doença de Huntington/diagnóstico , Doença de Huntington/genética , Diagnóstico Tardio , Apraxias/diagnóstico , Apraxias/etiologia , Síndrome de Cogan/complicações , Síndrome de Cogan/diagnósticoRESUMO
PURPOSE: Pediatric optic neuritis (ON) is a rare disease that has not been well characterized. The Pediatric ON Prospective Outcomes Study (PON1) was the first prospective study to our knowledge aiming to evaluate visual acuity (VA) outcomes, including VA, recurrence risk, and final diagnosis 2 years after enrollment. DESIGN: Nonrandomized observational study at 23 pediatric ophthalmology or neuro-ophthalmology clinics in the United States and Canada. PARTICIPANTS: A total of 28 (64%) of 44 children initially enrolled in PON1 (age 3-<16 years) who completed their 2-year study visit. METHODS: Participants were treated at the investigator's discretion. MAIN OUTCOMES MEASURES: Age-normal monocular high-contrast VA (HCVA). Secondary outcomes included low-contrast VA (LCVA), neuroimaging findings, and final diagnoses. RESULTS: A total of 28 participants completed the 2-year outcome with a median enrollment age of 10.3 years (range, 5-15); 46% were female, and 68% had unilateral ON at presentation. Final 2-year diagnoses included isolated ON (n = 11, 39%), myelin oligodendrocyte glycoprotein-associated demyelination (n = 8, 29%), multiple sclerosis (MS) (n = 4,14%), neuromyelitis optica spectrum disease (NMOSD) (n = 3, 11%), and acute disseminated encephalomyelitis (n = 2, 7%). Two participants (7%; 95% confidence interval [CI], 1-24) had subsequent recurrent ON (plus 1 participant who did not complete the 2-year visit); all had MS. Two other participants (7%) had a new episode in their unaffected eye. Mean presenting HCVA was 0.81 logarithm of the minimum angle of resolution (logMAR) (â¼20/125), improving to 0.14 logMAR (â¼20/25-2) at 6 months, 0.12 logMAR (â¼20/25-2) at 1 year, and 0.11 logMAR (20/25-1) at 2 years (95% CI, -0.08 to 0.3 [20/20+1-20/40-1]). Twenty-four participants (79%) had age-normal VA at 2 years (95% CI, 60-90); 21 participants (66%) had 20/20 vision or better. The 6 participants without age-normal VA had 2-year diagnoses of NMOSD (n = 2 participants, 3 eyes), MS (n = 2 participants, 2 eyes), and isolated ON (n = 2 participants, 3 eyes). Mean presenting LCVA was 1.45 logMAR (â¼20/500-2), improving to 0.78 logMAR (â¼20/125+2) at 6 months, 0.69 logMAR (â¼20/100+1) at 1 year, and 0.68 logMAR (â¼20/100+2) at 2 years (95% CI, 0.48-0.88 [20/50+1-20/150-1]). CONCLUSIONS: Despite poor VA at presentation, most children had marked improvement in VA by 6 months that was maintained over 2 years. Associated neurologic autoimmune diagnoses were common. Additional episodes of ON occurred in 5 (18%) of the participants (3 relapses and 2 new episodes).
Assuntos
Esclerose Múltipla , Neuromielite Óptica , Neurite Óptica , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Glicoproteína Mielina-Oligodendrócito , Recidiva Local de Neoplasia , Neurite Óptica/diagnóstico , Estudos Prospectivos , Estudos Retrospectivos , Transtornos da VisãoRESUMO
Purpose: The ophthalmologic findings in Alström syndrome include cone-rod dystrophy, optic atrophy, optic disc drusen, and retinal telangiectasias with exudative retinopathy. Here we describe peripheral retinal non-perfusion with neovascularization of the disc (NVD) in a child with Alström syndrome-related cone-rod dystrophy. Observations: A six-year-old girl with a diagnosis of Alström syndrome based on a homozygous nonsense likely pathogenic variant in ALMS1 (NM_015120.4:c.4746C > G; p.Tyr1582Ter) was seen in the ophthalmology clinic for nystagmus, photophobia, and poor vision with non-recordable scotopic and photopic electroretinography (ERG) responses. On routine follow-up exam, she was found to have optic disc hyperermia and apparent swelling. Brain and orbital magnetic resonance imaging (MRI) and lumbar puncture with opening pressure measurement were unremarkable. Because the optic disc findings were persistent, she underwent examination under anesthesia with fluorescein angiography, which revealed bilateral neovascularization of the optic disc (NVD) with peripheral retinal non-perfusion. Systemic workup including hemoglobin A1C measurement was normal. She underwent four sessions of bilateral panretinal photocoagulation and three intravitreal injections of anti-vascular endothelial growth factor (VEGF) with subsequent improvement of the NVD in both eyes. Conclusions and importance: Neovascularization of the optic disc may arise in Alström syndrome as a sequela of peripheral retinal ischemia. This finding may be partially responsive to panretinal photocoagulation and intravitreal anti-VEGF therapy.
RESUMO
PURPOSE: To systematically compare idiopathic and non-idiopathic ocular motor apraxia (OMA) in children. METHODS: A retrospective chart review was conducted of all children (< 18 years) diagnosed as having OMA from 2010 to 2020. Demographics, clinical characteristics, and oculomotor outcomes were compared for children with idiopathic and non-idiopathic OMA. RESULTS: Thirty-seven children were included, 17 (46%) with idiopathic OMA and 20 (54%) with non-idiopathic OMA. Among patients with non-idiopathic OMA, Joubert syndrome was the most frequent underlying diagnosis (30%). Strabismus (45% vs 12%, P = .04), nystagmus (30% vs 0%, P = .02), and vertical saccade involvement (25% vs 0%, P = .049) were significantly more common in non-idiopathic than idiopathic OMA, respectively. Neuroimaging abnormalities (90% vs 18%, P < .0001) and developmental delays (100% vs 59%, P = .002) were also more frequent in non-idiopathic than idiopathic OMA, respectively. Endocrine disorders (most commonly growth hormone deficiency) were diagnosed in 12% and 20% of children with idiopathic and non-idiopathic OMA, respectively (P = .67). On survival curve analysis, improvement in OMA occurred faster and more frequently in children with idiopathic than non-idiopathic OMA (median time to improvement 56 vs 139 months, respectively, P = .034). CONCLUSIONS: Non-idiopathic OMA is associated with a higher rate of vertical saccade involvement, nystagmus, and developmental delays. These findings should prompt neuroimaging in children with OMA. Additionally, endocrine disorders may be more frequent in children with OMA than the general pediatric population. [J Pediatr Ophthalmol Strabismus. 2022;59(5):326-331.].
Assuntos
Síndrome de Cogan , Nistagmo Patológico , Transtornos da Motilidade Ocular , Apraxias/congênito , Criança , Síndrome de Cogan/complicações , Síndrome de Cogan/diagnóstico , Hormônio do Crescimento , Humanos , Transtornos da Motilidade Ocular/diagnóstico , Estudos RetrospectivosRESUMO
BACKGROUND: Pediatric pseudotumor cerebri syndrome (PTCS) is a vision-threatening condition that is associated with female sex and obesity in pubertal and postpubertal children. It is unknown whether the increase in childhood obesity during the COVID-19 pandemic has affected the rates and characteristics of pediatric PTCS. METHODS: We conducted a retrospective study of children evaluated for PTCS (inpatient or emergency department) at our children's hospital before (March 19, 2015 to March 19, 2020) and during (March 20, 2020 to February 20, 2021) the pandemic. We compared the monthly number of inpatient and emergency department encounters for pediatric PTCS before and during the pandemic. In addition, anthropometric and ophthalmologic characteristics of children evaluated for pediatric PTCS before and during the pandemic were compared. RESULTS: A total of 36 encounters in the 5 years before the pandemic and 26 encounters in the 11 months during the pandemic were identified. The median monthly number of encounters for pediatric PTCS was significantly higher during the pandemic compared with the 5 years before the pandemic (2 vs 0, P = 0.0021). Compared with prepandemic patients, children evaluated during the pandemic were older (median age 16 vs 14 years, P = 0.02), with higher rates of obesity (85% vs 66%, P = 0.05) and lower likelihood of reporting Caucasian race (4% vs 31%, P = 0.02). Pandemic patients had worse presenting visual acuity (median logMAR 0.14 vs 0.05, P = 0.05) and were more likely to have fulminant presentation (23% vs 6%, P = 0.04) and require surgical intervention (23% vs 6%, P = 0.04). CONCLUSIONS: At our children's hospital, the rate of inpatient admissions and emergency department visits for pediatric PTCS increased during the pandemic. The severity of disease and frequency of surgical treatment also increased. Racial and ethnic minorities seem to be disproportionately affected. These changes may be related to increasing rates of childhood obesity during the pandemic.
Assuntos
COVID-19 , Obesidade Infantil , Pseudotumor Cerebral , Adolescente , COVID-19/epidemiologia , Criança , Serviço Hospitalar de Emergência , Feminino , Humanos , Pacientes Internados , Pandemias , Pseudotumor Cerebral/epidemiologia , Pseudotumor Cerebral/terapia , Estudos RetrospectivosRESUMO
BACKGROUND: Acquired sixth nerve (CN6) palsies in children may be benign or associated with an underlying neurologic condition. In children who presented with isolated (no associated neurologic or ophthalmic symptoms or signs) CN6 palsies, the rate of newly diagnosed neurologic disorders (such as tumors) is unclear. Moreover, the factors associated with spontaneous resolution and amblyopia in children with acquired CN6 palsies are unknown. METHODS: We retrospectively reviewed the charts of all children younger than 18 years diagnosed with CN6 palsy at our institution from 2010 to 2020. We recorded ophthalmologic and neurologic history and examination findings, neuroimaging results, etiology of CN6 palsy, and outcomes including spontaneous resolution and amblyopia. We assessed etiologies of isolated and nonisolated CN6 palsies as well as frequency and factors associated with spontaneous resolution and amblyopia (in children ≤7 years). RESULTS: One hundred seventy-two children met inclusion criteria. Twenty CN6 palsies (12%) were isolated at presentation. Most isolated cases were presumed postviral or postvaccination (50%) or idiopathic (30%), but 2 cases (10%) were associated with newly diagnosed tumors. Spontaneous resolution occurred in 59% of CN6 palsies at a median of 12.3 weeks and was associated with older age (P = 0.03) and nontumor etiology (P = 0.006). Amblyopia developed in 18% of children at risk, exclusively in those with anisometropia, pre-existing strabismus, or younger than 12 months. CONCLUSIONS: Our findings and chart reviews suggest that approximately 10% of isolated acquired pediatric CN6 palsies are associated with a newly diagnosed brain tumor. This risk must be discussed with parents when considering immediate vs delayed neuroimaging. In addition, infants and children ≤7 years with secondary amblyogenic risk factors (anisometropia or pre-existing strabismus) require close follow-up to monitor and treat amblyopia.
Assuntos
Doenças do Nervo Abducente , Ambliopia , Anisometropia , Neoplasias Encefálicas , Estrabismo , Doenças do Nervo Abducente/complicações , Doenças do Nervo Abducente/etiologia , Ambliopia/diagnóstico , Ambliopia/etiologia , Anisometropia/complicações , Neoplasias Encefálicas/complicações , Criança , Humanos , Lactente , Paralisia/complicações , Estudos Retrospectivos , Estrabismo/complicações , Estrabismo/etiologiaRESUMO
PURPOSE: To report an anatomic change following subretinal injection of voretigene neparvovec-rzyl (VN) for RPE65-mediated Leber congenital amaurosis. DESIGN: Multicenter, retrospective chart review. PARTICIPANTS: Patients who underwent subretinal VN injection at each of 4 participating institutions. METHODS: Patients were identified as having perifoveal chorioretinal atrophy if (1) the areas of atrophy were not directly related to the touch-down site of the subretinal cannula; and (2) the area of atrophy progressively enlarged over time. Demographic data, visual acuity, refractive error, fundus photographs, OCT, visual fields, and full-field stimulus threshold (FST) were analyzed. MAIN OUTCOME MEASURES: Outcome measures included change in visual acuity, FST, visual fields, and location of atrophy relative to subretinal bleb position. RESULTS: A total of 18 eyes of 10 patients who underwent subretinal injection of VN were identified as having developed perifoveal chorioretinal atrophy. Eight of 10 patients (80%) developed bilateral atrophy. The mean age was 11.6 years (range, 5-20 years), and 6 patients (60%) were male. Baseline mean logarithm of the minimum angle of resolution visual acuity and FST were 0.82 (standard deviation [SD], 0.51) and -1.3 log cd.s/m2 (SD, 0.44), respectively. The mean spherical equivalent was -5.7 diopters (D) (range, -11.50 to +1.75 D). Atrophy was identifiable at an average of 4.7 months (SD, 4.3) after surgery and progressively enlarged in all cases up to a mean follow-up period of 11.3 months (range, 4-18 months). Atrophy developed within and outside the area of the subretinal bleb in 10 eyes (55.5%), exclusively within the area of the bleb in 7 eyes (38.9%), and exclusively outside the bleb in 1 eye (5.5%). There was no significant change in visual acuity (P = 0.45). There was a consistent improvement in FST with a mean improvement of -3.21 log cd.s/m2 (P < 0.0001). Additionally, all 13 eyes with reliable Goldmann visual fields demonstrated improvement, but 3 eyes (23.1%) demonstrated paracentral scotomas related to the atrophy. CONCLUSIONS: A subset of patients undergoing subretinal VN injection developed progressive perifoveal chorioretinal atrophy after surgery. Further study is necessary to determine what ocular, surgical delivery, and vector-related factors predispose to this complication.
Assuntos
DNA/genética , Fóvea Central/patologia , Amaurose Congênita de Leber/complicações , Mutação , Distrofias Retinianas/etiologia , Acuidade Visual , cis-trans-Isomerases/genética , Adolescente , Criança , Pré-Escolar , Análise Mutacional de DNA , Feminino , Humanos , Amaurose Congênita de Leber/genética , Masculino , Distrofias Retinianas/diagnóstico , Distrofias Retinianas/fisiopatologia , Estudos Retrospectivos , Tomografia de Coerência Óptica/métodos , Campos Visuais , Adulto Jovem , cis-trans-Isomerases/metabolismoRESUMO
BACKGROUND: Cortical visual impairment (CVI) is the leading cause of pediatric visual impairment in developed countries, but there is currently no evidence-based treatment. A method of visual assessment that captures multiple domains of visual functioning may facilitate evaluation of proposed therapies. We have developed an eye-tracking protocol that evaluates afferent, efferent, and higher-order visual parameters in children with CVI. We report its validity and reliability in assessing visual acuity. METHODS: We recruited 16 children with CVI between the ages of 12 months and 12 years. Visual acuity was assessed clinically using a previously published six-level scale of visual behavior. Grating acuity was assessed by eye tracking using forced-choice preferential looking, which was performed at baseline and 1 month for reliability testing. Validity was assessed by correlating clinical acuity with grating acuity by eye tracking. RESULTS: Clinical visual acuity ranged from 3 to 6 on the six-level scale, and grating acuity ranged from 0.25 to 20 cycles per degree (logMAR 0.18-2.08). There was strong correlation between grating acuity by eye tracking and clinical acuity assessment (ρ = -0.82; P = 0.0002). Test-retest reliability was excellent, with an intraclass correlation coefficient of 0.96 (95% CI, 0.88-0.99). CONCLUSIONS: Eye tracking demonstrates excellent reliability for visual acuity assessment and high correlation with clinical assessment of visual acuity in pediatric CVI. Future research is necessary to determine whether eye tracking can assess other visual and oculomotor parameters in children with CVI, a prerequisite for incorporating this technique into future clinical trials and patient care.