Joubert syndrome: Molecular basis and treatment.

Joubert syndrome (JS; MIM PS213300) is a rare genetic autosomal recessive disease characterized by cerebellar vermis hypoplasia, a distinctive malformation of the cerebellum and the so-called "molar tooth sign." Other characteristic features are hypotonia with lateral ataxia, intellectual disability/mental retardation, oculomotor apraxia, retinal dystrophy, abnormalities in the respiratory system, renal cysts, hepatic fibrosis, and skeletal changes. Such pleiotropic characteristics are typical of many disorders involving primary cilium aberrations, providing a significant overlap between JS and other ciliopathies such as nephronophthisis, Meckel syndrome, and Bardet-Biedl syndrome. This review will describe some characteristics of JS associated with changes in 35 genes, and will also address subtypes of JS, clinical diagnosis, and the future of therapeutic developments.

Phenotypic Spectrum of Peters Anomaly: Implications for Management.

PURPOSE: The aim of this study was to characterize the wide phenotypic spectrum of Peters anomaly and to suggest a management algorithm based on disease phenotype. METHODS: The charts of all children diagnosed with Peters anomaly between January 2000 and December 2013 were reviewed retrospectively. Anterior segment color photographs, anterior segment optical coherence tomography, and ultrasound biomicroscopy images were used to phenotype disease severity and to guide management. Disease severity was categorized to Peters anomaly type I and II according to lens involvement. Peters anomaly type I and II were further categorized from mild to severe disease according to the size and location of corneal opacity. Associated systemic findings were also documented. RESULTS: Eighty eyes of 54 patients with Peters anomaly were identified, of which 28 (51.9%) had unilateral disease. Peters anomaly type I was present in 40 patients (57 eyes, 71.2%) and Peters anomaly type II in 14 patients (23 eyes, 28.8%). Nine eyes (11.3%) had phenotypic features that required observation only, 24 eyes (30%) were amenable to pupillary dilation, 43 eyes (53.8%) with large, dense central opacity required penetrating keratoplasty, and 4 eyes (5.0%) had no intervention because of very poor prognostic features. Associated systemic abnormalities occurred frequently in Peters anomaly (n = 20, 37.0%), with congenital heart defect being the most common morbidity (n = 10, 18.5%). CONCLUSIONS: Peters anomaly presents with a variable phenotype ranging from minimal peripheral corneal opacity to extensive iris and lens adhesions with dense central corneal opacity detrimental to vision. Management can be standardized and guided by an algorithm based on phenotypic severity. Systemic abnormalities should be ruled out, regardless of the severity of Peters anomaly.

Generalised hypomineralisation of enamel in oculodentodigital dysplasia: comprehensive dental management of a case.

Oculodentodigital dysplasia (ODDD) is a rare congenital disorder characterised by developmental abnormalities of the eye, dentition and digits of the hands and feet, with neurological symptoms reported in 30% of individuals. Dental anomalies associated with ODDD include enamel hypoplasia and subsequent caries, microdontia, missing teeth, amelogenesis imperfecta, pulp stones and delayed tooth development. Here, we describe the comprehensive dental management of a 3-year-old girl who presented with rapid deterioration of the primary dentition due to generalised enamel hypomineralisation. Conservative, comprehensive restorative management was performed under general anaesthesia. Within 6 months, further breakdown of the remaining unrestored enamel was noted. This case documents the challenges of conservative management in dental anomalies that are not well documented due to the extreme rarity of the disorder.

Airway Hemangiomas in PHACE Syndrome: A Multicenter Experience.

OBJECTIVE: To describe the prevalence and clinical characteristics of airway findings in a multi-institutional cohort of PHACE patients. STUDY DESIGN: Multicenter retrospective case series. SETTING: Multidisciplinary vascular anomalies clinics at 2 institutions. METHODS: Data were collected from the electronic medical record, including clinical presentation, airway findings, treatment, and outcomes. RESULTS: Of 55 PHACE patients, 22 (40%) had airway hemangiomas. Patients with airway involvement were more commonly female (P = .034, odds ratio [OR] 23, 95% confidence interval [CI] 1.3-410) and of Caucasian ethnicity (P = .020, OR 5.3, 95% CI 1.3-21). Anatomically, patients with bilateral S3 involvement had higher rates of airway disease (P = .0012, OR 15, 95% CI 2.9-77). Most patients with airway hemangiomas had stridor (68%). Of the patients managed in the propranolol era (2008 or later, n = 35), 14 had airway involvement. All 14 were treated with propranolol, whereas 13 (62%) of 21 nonairway patients were treated with propranolol. The average treatment duration was longer in the airway patients (22.1 vs 16.7 months). All patients who underwent tracheostomy (n = 4) did so before 2008. CONCLUSION: Risk factors for airway involvement in PHACE include female gender, Caucasian ethnicity, and stridor. Since the widespread use of propranolol, fewer patients have required surgical management of their airway disease. Given the high prevalence of airway involvement even in patients without stridor, assessment of the airway is a crucial component of a comprehensive PHACE workup.

Inyección de gas intravítreo combinada con fotocoagulación con láser de argón para el tratamento de la maculopatía de la foseta del disco óptico sin vitrectomía / Intravitreal gas injection combined with argon laser photocoagulation for treatment of optic disc pit maculopathy without vitrectomy

RESUMEN Presentamos el caso de un paciente con foseta del disco óptico, quien presentó una disminución de la agudeza visual secundaria a desprendimiento seroso de retina. Se decidió realizar una inyección intravítrea de 0.3ml de gas C3F8 (100%), seguida de fotocoagulación con láser de argón en el borde temporal de la foseta, logrando reaplicación total de la retina, con reabsorción de todo el líquido subretiniano visible en la tomografía de coherencia optica (OCT) luego de 400 días. Además hubo una mejoría significativa en la agudeza visual.

ABSTRACT We present the case of a patient with an optic disk pit, presenting with great loss of visual acuity secondary to serous retinal detachment. The management chosen was an intravitreal injection of 0.3 mL of C3F8 (100%), followed by argon laser photocoagulation on the temporal edge of the pit, ), achieving total retinal reattachment , and reabsorption of all subretinal fluid visible at optical coherence tomography after 400 days, in addition to great improvement in visual acuity.

Infantile and congenital hemangiomas.

Infantile hemangiomas (IHs) are the most common benign tumors of infancy. They typically appear after birth and undergo a period of rapid growth, followed by a gradual period of involution. Although the majority of IHs do not requirement treatment, oral propranolol is the first-line therapy for lesions that are at risk for life-threatening complications, functional impairment, ulceration, or permanent disfigurement. Rarely, IHs can be associated with structural anomalies. Congenital hemangiomas (CHs) are a distinct clinical entity, caused by a point mutation in GNAQ or GNA11. These lesions are typically present at birth and display a wide spectrum of clinical presentations. CHs can be distinguished from IHs by their unique histologic and radiographic features. Given the high-flow vascularity of CHs, surgical excision may be indicated due to the high risk of bleeding.

Congenital ocular malformations in dogs and cats: 123 cases.

OBJECTIVE: Provide epidemiological data regarding the prevalence of congenital ocular malformations in dogs and cats. ANIMALS STUDIED: A population of 32 974 dogs and 13 977 cats that presented for consultation at the veterinary teaching hospital. PROCEDURES: Medical records from 2011 to 2018 were reviewed. A retrospective and prospective epidemiological clinical study addressing congenital ocular malformations was conducted. Signalment, medical history, reason for presentation, clinical findings, vision impairment, and treatment options were analyzed. RESULTS: From the total of cases analyzed, 103 dogs (0.3%) and 20 cats (0.1%) met the inclusion criteria. The majority of dogs were mixed breed, the most common breed being the French Bulldog, while the majority of cats were European domestic shorthair. The median age of diagnosis was 12 months for dogs and 6 months for cats. Sex predisposition was not found. The most frequently identified abnormalities were as follows: congenital cataract (dogs: 31.1%; cats: 30.0%), microphthalmia (dogs: 35.0%, cats: 25.0%), and persistent pupillary membrane (dogs: 27.2%, cats: 40.0%). Some of the concurrently observed malformations were significantly associated. A statistically significant association was found between ocular dermoids and the French Bulldog breed (P < .001). CONCLUSIONS: Even though congenital ocular malformations are uncommon, knowledge about their prevalence is important, since they can cause vision impairment or even blindness. Moreover, some human ocular disease phenotypes are similar to the ones presented by dogs and cats, so they can be used as models to investigate pathophysiology and therapeutic approaches.

Management of PHACES syndrome: Risk of stroke and its prevention from a neurosurgical perspective.

BACKGROUND AND OBJECTIVES: A multidisciplinary approach for PHACES is essential. A meticulous diagnostic and treatment protocol for PHACES patients with cerebrovascular anomalies within the intermediate and high risk strata for ischemic stroke is presented. We also differentiate the vasculopathy associated with PHACES syndrome from moyamoya angiopathy. METHODS: Medical records and radiological imaging were reviewed. After initial magnetic resonance imaging/angiography (MRI/MRA), H215O-PET scan (baseline and Acetazolamide challenge) was performed in three patients and 6-vessel cerebral angiography was performed in two patients. Two patients with significant intracranial cerebrovascular anomalies underwent cerebral revascularization. RESULTS: Each patient presented with a facial hemangioma at birth and additional cerebrovascular anomalies ranging from hypoplasia to steno-occlusive changes of intracranial cerebral arteries. Additional involvement of the cardiovascular system was observed in two patients. Additional to MRI/MRA, a H215O-PET helped stratify the three patients into intermediate (n=1) and high risk groups (n=2). The high-risk group patients underwent individualized cerebral revascularization for future stroke prevention. The patient in intermediate risk group will be followed. Cerebrovascular angiopathy seen in all patients was typical for PHACES without moyamoya and was not progressive at follow-up. CONCLUSIONS: Patients within the intermediate and high-risk strata for ischemic stroke must undergo a 6-vessel cerebral angiography and further hemodynamic evaluation to indicate need for cerebral revascularization to prevent ischemic stroke. Non-progressive vasculopathy associated with PHACES can itself be hemodynamically relevant for neurosurgical intervention. This vasculopathy is distinct from moyamoya angiopathy, which can occur in conjunction with PHACES, resulting in concurrent progressive vasculopathy that would otherwise be absent.

A safe treatment for congenital fibrovascular pupillary membrane.

PURPOSE: The purpose of this study was to describe the clinical features and management of fibrovascular pupillary membrane. METHODS: Four patients with congenital fibrovascular pupillary membrane were recruited. Comprehensively, ophthalmic examinations were performed. Peripheral iridectomy was performed to create a tunnel for blunt dissection of adhesion between the membrane and the lens capsule. Bipolar radiofrequency diathermy was then used to cut the membrane utilizing its coagulation effect. RESULTS: All four patients received uneventful membranectomy surgeries. The follow-up duration ranged from 9 to 16 months. All patients recovered well. Visual behavior was central and steady. The natural pupil size ranged from 2 to 3 mm. No sign of visual axis obstruction, cataract formation, or intraocular pressure elevation was detected during the follow-up. No second surgery was needed for all patients. CONCLUSION: Fibrovascular pupillary membrane is a rare unilateral disease impairing visual acuity in children. Using the technique combining peripheral iridectomy with bipolar radiofrequency, diathermy can simplify the traditional surgery procedures and reduce the risks when removing fibrovascular pupillary membranes.

Optic disc pit maculopathy: a review of diagnosis and treatment.

Optic disc pit is a rare congenital defect which appears as a circumscribed greyish depression in the lamina cribrosa. Serous macular detachment is one of the most visually debilitating complications of optic disc pit, affecting 25-75 per cent of patients. Although there is a wide variety of treatment modalities available with varying degrees of success, there is yet no consensus in the optimal management of optic disc pit-associated maculopathy. This review discusses the literature on the pathogenesis, clinical presentation, diagnosis and treatment options.

Healthcare recommendations for Joubert syndrome.

Joubert syndrome (JS) is a recessive neurodevelopmental disorder defined by a characteristic cerebellar and brainstem malformation recognizable on axial brain magnetic resonance imaging as the "Molar Tooth Sign". Although defined by the neurological features, JS is associated with clinical features affecting many other organ systems, particularly progressive involvement of the retina, kidney, and liver. JS is a rare condition; therefore, many affected individuals may not have easy access to subspecialty providers familiar with JS (e.g., geneticists, neurologists, developmental pediatricians, ophthalmologists, nephrologists, hepatologists, psychiatrists, therapists, and educators). Expert recommendations can enable practitioners of all types to provide quality care to individuals with JS and know when to refer for subspecialty care. This need will only increase as precision treatments targeting specific genetic causes of JS emerge. The goal of these recommendations is to provide a resource for general practitioners, subspecialists, and families to maximize the health of individuals with JS throughout the lifespan.

[Treatment of congenital ptosis in a low-income country: polypropylene frontalis sling at the African Institute of Tropical Ophthalmology]. / Traitement du ptosis congénital dans un pays à faible revenu : suspension du releveur au muscle frontal par le polypropylène à l'Institut d'Ophtalmologie tropicale de l'Afrique (IOTA).

INTRODUCTION: Treatment of congenital ptosis is exclusively surgical; the frontalis sling method is most appropriate when the ptosis is severe, with no upper eyelid levator function. This surgery typically utilizes various materials (autologous fascia lata, silicone, nylon, or polypropylene bands, etc.). MATERIALS AND METHODS: This was a retrospective descriptive study of 22 children under 16 years of age, treated for congenital ptosis by frontalis suspension of the levator muscle of the upper eyelid using the polypropylene technique, between January 1, 2014 and June 30, 2017 at the African Institute of Tropical Ophthalmology teaching hospital. RESULTS: In our study, the surgical result (prior to correction of recurrences) was satisfactory in 81.82 % of cases, with a recurrence rate of 13.64 %. The mean follow-up was 14 months, ranging from 4 to 25 months. DISCUSSION: The use of polypropylene provides encouraging results in ptosis surgery, while also offering the advantage of being low cost and more available. Its use in developing countries deserves special attention.

Identification of a new homozygous CEP290 gene mutation in a Saudi Family causing joubert syndrome using next-generation sequencing.

A 19-year-old female with a learning difficulty, ataxia, and nystagmus was referred to our clinic with advanced chronic kidney disease. Her renal biopsy revealed features of nephronophthisis (NPHP). Magnetic resonance imaging of the brain showed "molar tooth sign." The clinical picture was consistent with Joubert syndrome (JS). Two of her siblings were subsequently found to have a similar condition. Genomic material from the patient, her twin sister, and later on from parents was analyzed for deletion/duplication mutations in the NPHP1 gene using multiplex ligation-dependent probe amplification. No genetic defect was discerned. However, applying the emerging "Next-Generation Sequencing (NGS)" method, we identified a novel c.5704G>T mutation in exon 41 of the CEP290 gene on chromosome 12q21. The identification of this novel mutation, that is, highly likely to be pathogenic was compatible with the diagnosis of JS. This mutation may be included in screening and diagnostic panel. NGS provides an excellent screening method for genetic testing.

[Congenital abnormalities of the optic disc]. / Anomalies congénitales de la papille.

Congenital abnormalities of the optic disc are not uncommon in clinical practice and should be recognized. Size abnormalities of the optic disc include optic disc aplasia, hypoplasia, megalopapilla, and optic disc cupping in prematurity. Among congenital excavations of the optic disc head, morning glory disc anomaly and optic disc pit can be complicated by serous retinal detachment; the papillorenal disc is an association of bilateral optic disc cupping and renal hypoplasia which should be ruled out; optic disc coloboma is caused by an abnormal closure of the embryonic fissure and can be complicated by choroidal neovascularization and retinal detachment. Other abnormalities that will be discussed are congenital tilted disc syndrome, duplicity of the optic disc head, congenital pigmentation of the optic disc head and myelinated retinal nerve fibers. All of these abnormalities can be associated with syndromes and neurological diseases, as well as other potentially blinding ophthalmological defects which can be secondarily complicated by amblyopia, strabismus and nystagmus. Thus, they should be recognized in order to plan for appropriate follow-up.

Ankyloblepharon-ectodermal dysplasia-clefting syndrome misdiagnosed as epidermolysis bullosa and congenital ichthyosiform erythroderma: Case report and review of published work.

A Chinese female infant presented with ectodermal dysplasia, cleft palate and severe skin erosions at birth. Although all the typical clinical features of ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome were present, the ankyloblepharon was not very marked. We misdiagnosed epidermolysis bullosa and congenital ichthyosiform erythroderma at first and confirmed the diagnosis of AEC syndrome only when she presented with the typical clinical manifestation of recurrent infected scalp erosions at 1 year of age. Mutation analysis of exon 13 of the p63 gene revealed a missense mutation Ile482Thr (c.1445T>C) in the sterile alpha motive domain. In this work we review the clinical features, differential diagnosis and prognosis in AEC syndrome.

Brittle cornea syndrome: a case report and review of the literature.

BACKGROUND: To report a patient who presented with bluish scleral discoloration, keratoconus, and progressive high myopia. CASE PRESENTATION: A 6-year-old Chinese female patient presented with a significant bluish discoloration of the sclera in both eyes and extreme corneal thinning with anterior corneal protrusion. General pediatric physical examination was normal for all systems and no genetic disorders known were observed. CONCLUSIONS: We aim to highlight the importance of diagnosis and treatment of patients suffering from Brittle cornea syndrome. Timely diagnosis and early provision of protective glasses seem to be the most important step in treating BCS. To our knowledge, this is the first case of BCS being reported in the Asia area.

[Bilateral persistent pupillary membrane and high myopia]. / Persistance de la membrane pupillaire bilatérale et forte myopie.

After birth, remnants of pupillary membrane which constitute the vascular supply to the crystalline lens can persist. These are contiguous to the iris collarette causing possible deprivation amblyopia by obstructing the pupillary area. We here report the case of a 4-year-old child, born to consanguineous parents, presenting with bilateral persistent pupillary membrane associated with high myopia. Clinical examination showed bilateral remnants of pupillary membrane, intact iris sphincter and diffuse chorioretinal atrophy in the fundus of eye . Visual acuity was difficult to assess. On the other hand, refraction test showed high myopia RE -10.75 (-3.25, 29°) LE -10 (-0.75, 180°). Treatment of bilateral persistent pupillary membrane is based on mydriatic agents, surgical excision or laser destruction. We opted for the use of mydriatic agents with total optical correction and amblyopia treatment.

Optic Disc Pit Maculopathy: A Two-Year Nationwide Prospective Population-based Study.

PURPOSE: To identify the incidence, presenting features, treatment, and clinical course of optic disc pit maculopathy (ODPM) in the United Kingdom (UK). DESIGN: A 2-year nationwide prospective population-based study. SUBJECTS: All new incident cases of ODPM presenting to UK ophthalmologists using the British Ophthalmic Surveillance Unit monthly reporting system. METHODS: All reporting ophthalmologists were sent an initial questionnaire requesting data on previous medical and ophthalmic history, presentation details, investigation findings, and management. A further questionnaire was sent at 12 months post diagnosis to ascertain further outcome data. MAIN OUTCOME MEASURES: Visual acuity at initial presentation, at 1 year, and after any intervention. Foveal involvement and optical coherence tomography (OCT) findings, including retinal layers affected, and the location and size of the optic disc pit. Management, including observation, vitrectomy, and associated procedures. RESULTS: There were 74 confirmed new cases, giving an annual incidence of approximately 1 per 2 million. Complete data were available on 70 patients (70 eyes) at baseline and 68 after 1 year. There were 35 (50%) female patients with a mean age of 35 years (range, 3-82 years). Visual acuity at baseline ranged from 6/5 to hand movements. In 43 patients (61%) subretinal fluid (SRF) was present, whereas 27 (39%) had intraretinal fluid only. The presence of SRF was associated with worse vision and foveal involvement. Of the 53 eyes initially observed with 1-year follow-up, 10 (19%) deteriorated and 9 (16%) improved on OCT; eyes with SRF were more likely to worsen and those without SRF were more likely to improve. Fifteen of the 70 patients (21%) at baseline had primary surgery and a further 10 had deferred surgery within 1 year of presentation; 19 of these 25 eyes (76%) showed anatomic success with a dry fovea at 1 year of follow-up, and 15 (60%) had a greater than 0.1 logMAR improvement in visual acuity. CONCLUSION: The incidence and presenting features of ODPM were defined. Patients with SRF had worse vision and were more likely to deteriorate than patients with intraretinal fluid only. Surgery was anatomically successful in 75% of cases. Patients without SRF tended to remain stable with observation.

Iridogoniodysgenesis: A Challenging Case.

Iridogoniodysgenesis is a rare autosomal dominant disorder affecting anterior segment of the eye. Fifty percent cases of iridogoniodysgenesis have glaucoma, which is particularly difficult to manage. We report here a case of 40 years old man with this rare disorder, presenting to our glaucoma department. It was characterised by iris hypoplasia and juvenile glaucoma. To stop fluctuation in his intraocular pressure (IOP) and to save his vision from glaucomatous damage, our team had to do three different surgical procedures, i.e. trabeculectomy with F5U, diode laser cycloablation and aqueous shunt procedure, over a period of 10 months. This case report discusses management of glaucoma in this particular patient and challenges faced during the treatment. Regular follow-up and timely intervention can save such patients from complete blindness. To authors' knowledge, this is the first reported case of iridogoniodysgenesis in Pakistan.

Efficacy of vision therapy in children with learning disability and associated binocular vision anomalies / Eficacia de la terapia visual en niños con trastorno de aprendizaje y anomalías en la visión binocular asociadas

Purpose: To report the frequency of binocular vision (BV) anomalies in children with specific learning disorders (SLD) and to assess the efficacy of vision therapy (VT) in children with a non-strabismic binocular vision anomaly (NSBVA). Methods: The study was carried out at a centre for learning disability (LD). Comprehensive eye examination and binocular vision assessment was carried out for 94 children (mean (SD) age: 15 (2.2) years) diagnosed with specific learning disorder. BV assessment was done for children with best corrected visual acuity of ≥6/9-N6, cooperative for examination and free from any ocular pathology. For children with a diagnosis of NSBVA (n = 46), 24 children were randomized to VT and no intervention was provided to the other 22 children who served as experimental controls. At the end of 10 sessions of vision therapy, BV assessment was performed for both the intervention and non-intervention groups. Results: Binocular vision anomalies were found in 59 children (62.8%) among which 22% (n = 13) had strabismic binocular vision anomalies (SBVA) and 78% (n = 46) had a NSBVA. Accommodative infacility (AIF) was the commonest of the NSBVA and found in 67%, followed by convergence insufficiency (CI) in 25%. Post-vision therapy, the intervention group showed significant improvement in all the BV parameters (Wilcoxon signed rank test, p < 0.05) except negative fusional vergence. Conclusion: Children with specific learning disorders have a high frequency of binocular vision disorders and vision therapy plays a significant role in improving the BV parameters. Children with SLD should be screened for BV anomalies as it could potentially be an added hindrance to the reading difficulty in this special population (AU)

Objetivo: Reportar la frecuencia de las anomalías en la visión binocular (VB) en niños con trastornos específicos de aprendizaje (SLD), y evaluar la eficacia de la terapia visual (TV) en niños con alteraciones en la visión binocular no estrábicas (NSBVA). Métodos: El estudio se llevó a cabo en un centro para discapacidades de aprendizaje (LD). Se realizó un amplio examen ocular y una valoración de la visión binocular en 94 niños (Media (DE) edad: 15 (2,2) años) con diagnóstico de trastorno específico de aprendizaje. Se llevó a cabo una valoración de la VB en los niños, con agudeza visual mejor corregida de ≥6/9-N6, que cooperaron durante el examen, y que carecían de patología ocular. En los niños con diagnóstico de NSBVA (n = 46), se aleatorizaron 24 de ellos para terapia visual, sin realizar intervención alguna en los 22 niños restantes, que sirvieron de controles. Al finalizar las 10 sesiones de terapia visual, se realizó una valoración de VB tanto en el grupo de intervención como en el de no intervención. Resultados: Se encontraron anomalías en la visión binocular en 59 niños (62,8%), de entre los cuales el 22% (n = 13) tenían alteraciones en la visión binocular estrábica (SBVA), y el 78% (n = 46) reflejaron NSBVA. La inflexibilidad acomodativa (AIF) fue la NSBVA más común, estando presente en el 67% de los casos, seguida de la insuficiencia de convergencia (CI) en 25% de ellos. Tras la terapia visual, el grupo de intervención reflejó una mejora significativa en todos los parámetros de VB (prueba de los rangos con signo de Wilcoxon: p < 0,05) exceptuando la vergencia fusional negativa. Conclusión: Los niños con trastorno específico de aprendizaje tienen una elevada frecuencia de anomalías en la visión binocular, y en ellos la terapia visual juega un papel significativo para la mejora de los parámetros de VB. Deberá supervisarse a los niños con SLD, en relación a las anomalías de VB, que podrían suponer un obstáculo añadido a la dificultad lectora en esta población especial (AU)