Jesús Peralta

Clinical management algorithm of uveitis associated with juvenile idiopathic arthritis: interdisciplinary panel consensus

Uveitis associated with juvenile idiopathic arthritis (JIA) typically involves the anterior chamber segment, follows an indolent chronic course, and presents a high rate of uveitic complications and a worse outcome as compared to other aetiologies of uveitis. Disease assessment, treatment, and outcome measures have not been standardized. Collaboration between pediatric rheumatologists and ophthalmologists is critical for effective management and prevention of morbidity, impaired vision, and irreparable visual loss. Although the Standardization of Uveitis Nomenclature Working Group recommendations have been a great advance to help clinicians to improve consistency in grading and reporting data, difficulties arise at the time of deciding the best treatment approach in the individual patient in routine daily practice. For this reason, recommendations for a systematized control and treatment strategies according to clinical characteristics and disease severity in children with JIA-related uveitis were developed by a panel of experts with special interest in uveitis associated with JIA. A clinical management algorithm organized in a stepwise regimen is here presented.

Uveal melanoma in a 19-month-old child

Uveal melanoma is extremely rare in children. Its clinical and histopathological features have been reported to be similar to those observed in adults. The tumor usually presents as a sessile or dome-shaped mass with secondary nonrhegmatogenous retinal detachment. We report a 19-month-old boy with a choroidal melanoma presenting as hemorrhagic retinal detachment and buphthalmos. The eye was enucleated, but the child subsequently died from systemic metastases.

Anti-adalimumab antibodies in paediatric rheumatology patients: a pilot experience

zero. These cases illustrate the potential added value of belimumab after rituximab treatment in active LN. It should be noted that both patients continue to have low disease activity while on belimumab monotherapy. To our knowledge, this is the first report of LN patients treated with two consecutive B cell targeted treatments. In both patients, belimumab halted the full repopulation of circulating B cells after rituximab. From a pathophysiological point of view, it is well appreciated that autoantibody-positive disease is found specifically in LN and that B cell hyperactivity is a landmark in SLE [5]. It is tempting to speculate that the clinical improvement of these patients is due to a synergic effect of rituximab and belimumab. Previously, two randomized trials (BLISS-52 AND BLISS-76) showed beneficial effects of belimumab in reducing concomitant immunosuppression in autoantibody-positive SLE without major organ involvement and without previous rituximab treatment. Recently one patient with active LN was reported to have a beneficial response to belimumab, albeit in conjunction with pulse steroids [6]. Currently we await the results of a randomized trial assessing belimumab’s efficacy in LN (NCT01639339). This report describes belimumab as rescue treatment in refractory LN due to commonly seen gastrointestinal intolerance to MMF [7]. The present report encourages further research into the clinical yield of combining B cell targeted treatment in the difficult population of SLE patients with major organ involvement or refractory disease.

Microcephaly-lymphedema-chorioretinal dysplasia associated with pachymicrogyria and atrophy of the cerebellar vermis: an integration of brain-ocular migration disorders

Background: Microcephaly-lymphedema-chorioretinal dysplasia (OMIM 152950) is a rare malformative inherited disorder that can be associated with other systemic features. Other ocular and brain anomalies rather than microcephaly and chorioretinal dysplasia have been inconstantly reported in this syndrome. Methods: We present a case of microcephaly-lymphedema-chorioretinal dysplasia with a dysmorphic facies, hypertonicity in the extremities and neuropsychomotor delay. Ophthalmological examination revealed bilateral nystagmus, microphthalmia, posterior subcapsular cataratacts, extensive chorioretinal dysplasia, optic nerve aplasia, persistent fetal vasculature, and absent retinal vessels. Results: Magnetic resonance revealed pachymicrogyria and discrete atrophy of vermis cerebelosum and confirmed optic nerve hypoplasia. Conclusions: The developmental alterations observed in the retina of this patient could be analogous to central nervous system anomalies, reflecting a reduction in neural population. Ophthalmic examination of children with microcephaly is warranted.

Topical carbonic anhydrase inhibitors in macular edema associated with Alström syndrome.

ABSTRACT Background: Alström syndrome is a rare genetic ciliopathy caused by a mutation in the ALMS1 gene. The syndrome is characterized by cone-rod dystrophy, dilated myocardiopathy, childhood obesity and sensorineural hearing loss. To date, cystoid macular edema has not been reported. Methods: A female affected by Alström syndrome developed bilateral cystoid macular edema evidenced by optical coherence tomography. A topical carbonic anhydrase inhibitor was prescribed. Results: Complete resolution of the cystoid macular edema was achieved, though visual acuity did not improve. Conclusions: Topical carbonic anhydrase inhibitors may have a role in the treatment of macular edema in syndromic retinal dystrophies such as Alström syndrome.

Intravitreal Bevacizumab for Zone II Retinopathy of Prematurity.

PURPOSE To evaluate the treatment outcomes of intravitreal bevacizumab injections as monotherapy in type 1 retinopathy of prematurity (ROP). METHODS A retrospective chart review was performed for patients with type 1 ROP who had intravitreal bevacizumab injections between November 2013 and January 2015 at La Paz University Hospital in Madrid, Spain. Gestational age at birth, birth weight, sex, ROP zone, ROP stage, mean age at treatment, and follow-up period were recorded. The final clinical status of the retina was noted for each patient. The primary outcome measures included ROP recurrences requiring re-treatment, complete or incomplete peripheral vascularization, mean age at complete vascularization, and refractive errors. RESULTS From 14 patients enrolled with type 1 ROP, 28 eyes were included. The mean gestational age at birth was 25.9 ± 2.34 weeks (range: 23.6 to 32.4 weeks) and the median birth weight was 694 g (range: 487 to 1,740 g). All eyes showed zone II ROP: 18 eyes (64.3%) had anterior zone II ROP and 10 eyes (35.7%) had posterior zone II ROP. One week after intravitreal bevacizumab injection, 14 eyes (50%) had achieved complete regression of ROP, and a partial regression of ROP was observed in 10 eyes (35.7%). Twenty-two eyes (78.6%) obtained complete vascularization during the follow-up. The median time to complete vascularization was 134 ± 21.45 days. The mean spherical equivalent at last visit was 1.99 diopters. CONCLUSIONS Intravitreal bevacizumab injection used as a monotherapy is an effective treatment approach in patients with zone II ROP. [J Pediatr Ophthalmol Strabismus. 2016;53(6):375-382.].

Isquemia retiniana y proliferación fibrovascular tardía asociada a coloboma de nervio óptico

CASE REPORT A patient with a left optic nerve coloboma with late development (at 15 years of age) of vitreoretinal fibrovascular proliferation and tractional retinal detachment (TRD). Sectorial retinal photocoagulation was performed with regression of the proliferative tissue and exudation. DISCUSSION Congenital optic nerve anomalies may be associated with significant retinal avascularity, ischaemia and late fibrovascular proliferation. Laser is effective for regression of the neovascular tissue and preventing TRD progression.

Clinical manifestations of four patients diagnosed with early-onset sarcoidosis or sarcoid-like syndrome

Sarcoidosis is a rare multisystemic granulomatous disease. Pulmonary involvement is common in adults, but any organ can be affected.

PReS-FINAL-2274: Antiadalimumab antibodies in pediatric rheumatology patients. A pilot experience

Immunogenicity of anti-Tumor Necrosis Factor agents is one of the mechanisms behind treatment failure.

Uveítis y artritis idiopática juvenil: Epidemiología, pronóstico y tratamiento

espanolObjetivo: Describir la frecuencia y caracteristicas de la uveitis asociada a la artritis idiopatica juvenil en un centro de referencia terciario en Espana. Metodos: Se estudiaron 205 ninos diagnosticados de artritis idiopatica juvenil en los ultimos 15 anos, de los cuales 26 desarrollaron uveitis anterior. Se clasifico a los pacientes segun su patron de evolucion, el momento de diagnostico de uveitis y la gravedad de la misma al diagnostico. Resultados: La prevalencia de uveitis entre los ninos con artritis idiopatica juvenil fue de 12,7%, de las cuales el 71% eran ninas. La edad media del diagnostico de artritis fue significativamente menor en el grupo de pacientes que desarrollaron uveitis (4 anos). No se observaron diferencias en la incidencia de uveitis en ninos/as ni en la afectacion pauci/poliarticular. Se encontraron ANA+ en el 84,6% de los pacientes con uveitis, presentando diferencias significativas con el grupo ANA-. La edad media de diagnostico de uveitis fue de 5,87 anos. El 48,1% de los pacientes desarrollaron la uveitis en los primeros doce meses del diagnostico de artritis. Este subgrupo de pacientes presento mas complicaciones en su evolucion. El 84,7% del total de pacientes con uveitis seguidos en consulta presentaron una agudeza visual media final >0,5. Conclusiones: En nuestro estudio el desarrollo de uveitis se asocia de manera significativa con la menor edad al diagnostico de artritis y con la presencia de ANA+. Se observa una mayor prevalencia de complicaciones en los casos que presentan un menor intervalo de tiempo entre el diagnostico de artritis y uveitis, y en aquellos que presentaron complicaciones al diagnostico. EnglishPurpose: The purpose of this paper is to describe the frequency and characteristics of uveitis associated with juvenile idiopathic arthritis at a tertiary referral centre in Spain Methods: Review of clinical records. 205 children diagnosed with chronic juvenile arthritis over the last 15 years, of whom 26 presented anterior uveitis. Patients were classified according to their pattern of evolution, the time the uveitis was diagnosed with respect to the onset of arthritis, and the severity of uveitis at diagnosis. Results: The prevalence of uveitis was 12.7%. Of the patients affected with uveitis 71% were girls. The average age at which the arthritis was diagnosed was significantly earlier in the group of patients who developed uveitis (4.06 years). No differences were observed in the incidence of uveitis in girls and boys, nor in pauci/polyarticular affectation. ANA positivity was found in 84.6% of the uveitis-affected patients, this being significantly different to the ANA- group. The average age at which uveitis was diagnosed is 5.87 years. 48.1% of uveitis patients develop uveitis within 12 months of the onset of arthritis. This group presented more complications during the evolution of the condition. A total of 84.7% of the uveitis-affected patients presented with a final visual acuity of >0.5 during the observation period. Conclusions: In our study, the development of uveitis was significantly associated with an earlier age of diagnosis of the arthritis and with the presence of ANA positivity. No differences were observed between boys and girls, or between pauci and polyarticular groups. A greater prevalence of complications was observed in cases presenting with a shorter time interval between the diagnosis of arthritis and uveitis and in those that presented with complications on diagnosis.