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- Vestibulo-Ocular Reflex Dynamics with Head-Impulses Discriminates Usher Patients Type 1 and 2Publication . Amorim, AM; Ramada, AB; Lopes, AC; Duarte Silva, E; Lemos, J; Ribeiro, JCUsher Syndrome classification takes into account the absence of vestibular function but its correlation with genotype is not well characterized. We intend to investigate whether video Head Impulse Test (vHIT) is useful in screening and to differentiate Usher Syndrome types. 29 Usher patients (USH) with a genetically confirmed diagnosis and 30 healthy controls were studied with vHIT and dizziness handicap inventory questionnaire (DHI). Statistical significant differences between USH1, USH2 and controls were found in the vestibulo-ocular-reflex (VOR) gain of all SCCs, with USH1 patients consistently presenting smaller gains. VOR gain of the right lateral SCC could discriminate controls from USH1, and USH2 from USH1 with an overall diagnostic accuracy of 90%. USH1 DHI correlated with VOR (ρ = - 0,971, p = 0.001). Occurrence rate of covert and overt lateral semicircular canals refixation saccades (RS) was significantly different between groups, being higher in USH1 patients (p < 0.001). USH1 peak velocity of covert and overt saccades was higher for lateral semicircular canals (p < 0.05 and p = 0.001) compared with USH2 and controls. Covert saccades occurrence rate for horizontal SCCs could discriminate USH1 from USH2 patients and controls with a diagnostic accuracy of 85%. vHIT is a fast and non-invasive instrument which allowed us to screen and distinguish Usher patients from controls with a high precision. Importantly, its use allowed further discrimination between USH1 from USH2 groups. Moreover, VOR gain seems to correlate with vertigo-related quality of life in more severe phenotypes.
- Novel Insights in the Management of Vernal Keratoconjunctivitis (VKC): European Expert Consensus Using a Modified Nominal Group TechniquePublication . Dahlmann-Noor, A; Bonini, S; Bremond-Gignac, D; Heegaard, S; Leonardi, S; Montero, J; Silva, EDIntroduction: Vernal keratoconjunctivitis (VKC) is a rare, severe allergic ocular disease, typically occurring in children and adolescents, that can have a significant impact on quality of life and lead to visual impairment. Long-term treatment may be necessary to tackle chronic inflammation and topical corticosteroid dependency must be minimised due to the risk of complications. There is a need for unified clinical guidance to aid the assessment, diagnosis and management of VKC across Europe. The aim of this expert panel (the EUR-VKC Group) was to provide clear guidance for primary care physicians and general ophthalmologists involved in the diagnosis and management of VKC. Methods: An expert group of seven European ophthalmologists was convened and a modified nominal group technique used to develop key recommendations on VKC management. The recommendations were subject to up to two rounds of voting using a 5-point Likert scale to ascertain consensus and the strength of each recommendation. Consensus was set at a predetermined threshold of ≥ 75.0% of experts selecting 'Strongly agree' or 'Agree'. Results: A total of 47 recommendations were developed relating to the assessment of key of VKC, guidance on who and when to refer, as well as treatment-escalation pathways, long-term follow-up, and supportive care and education. All recommendations reached consensus after two rounds. The group emphasise how timely diagnosis and treatment initiation that is appropriate to disease severity are crucial to benefit patients with VKC. Patients with signs ('red flags') indicating severe VKC, or persistent mild-to-moderate VKC that is non-responsive following 2-4 weeks of treatment, should be referred to a sub-specialist. Conclusion: The EUR-VKC Group provides recommendations on the assessment, diagnosis, management, referral and follow-up of patients with VKC. It also provides a framework to facilitate collaboration between primary care physicians, general ophthalmologists and sub-specialists to improve the outcomes for patients with VKC.
- New Ocular Findings in a Patient with a Novel Pathogenic Variant in the FBXO11 GenePublication . Silva, RG; Dupont, J; Silva, E; Sousa, ABIntellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) is a recently described autosomal dominant entity caused by pathogenic variants, mostly de novo, in the FBXO11 gene. It presents in the first years of life with highly variable clinical manifestations. The main features of IDDFBA include borderline-to-severe intellectual disability, behavioral problems, hypotonia, facial dysmorphisms, minor skeletal abnormalities, and recurrent infections. Although eye problems, such as refractive errors, eye misalignment and minor visual changes, have been described in about 48% of patients, a major ocular defect, namely, bilateral optic nerve hypoplasia, has been reported in the literature only once. We report an 8-year-old boy with a novel de novo pathogenic variant in FBXO11 gene (NM_001190274.1: c.1166dup, p.Cys390Metfs∗3) and a complex ophthalmological phenotype, consisting of right microphthalmia, very shallow anterior chamber, and persistent pupillary membrane, right dense nuclear cataract, bilateral optic nerve hypoplasia, and bilateral horizontal manifest nystagmus.
- Síndrome de Alström: Quatro CasosPublication . Melo, A; Santa Marta, I; Kay, T; Lourenço, T; Xavier, A; Pina, R; Lopes, L; Fonseca, GA Síndrome de Alström (SA, MIM# 203800) é uma doença hereditária, de transmissão autossómica recessiva, descrita pela primeira vez em 1959, por Alström. O gene ALMS1, causador da doença, foi identificado em 2002 e localiza-se no cromossoma 2p13. É uma doença genética rara, com o envolvimento de múltiplos órgãos e de evolução progressiva. As principais características fenotípicas incluem: retinopatia pigmentar, surdez neurosensorial, miocardiopatia dilatada, obesidade, hiperinsulinismo e resistência à insulina. Recentemente, foram publicados critérios de diagnóstico, classificados em major e minor, contribuindo para um diagnóstico precoce da doença. Descrevem-se quatro casos, realçando-se as diferentes formas de apresentação clínica, a importância de um seguimento multidisciplinar e a possibilidade de se tratar provavelmente de uma doença sub-diagnosticada.
- Perspectivas do Estudo da Diabetes Ocular numa Consulta PediátricaPublication . Rodrigues, P; Nepomuceno, J; Brito, C; Mesquita, JA duração da diabetes mellitus é um factor de risco no aparecimento de complicações oculares. A prevalência da retinopatia diabética é praticamente nula antes dos 10 anos de idade, independentemente da duração da doença, atingindo 95% após 20-30 anos de evolução. Na Consulta de Oftalmologia Pediátrica do Hospital D. Estefânia avaliámos retrospectivamente 62 crianças com diagnóstico de diabetes meliitus tipo I, no intervalo d etempo compreendido entre 1 de Janeiro de 1999 e 31 de Junho de 2000. As idades oscilavam entre os 3 e os 17 anos(média 11,8 anos), tendo sido 29 casos do sexo feminino e 33 do sexo masculino. O período de evolução da doença variava entre 6 meses e 16 anos (média 6,2 anos). Na população estudada constatámos uma incidência de 6,4% de lesões oculares. Vericámos 1 caso (1,6%) de retinopatia de fundo, numa adolescente de 17 anos de idade e 11 anos de evoluão da doença, e 3 casos (4,8%) de catarata bilateral. Na diabetes juvenil a probabilidade de ocorrência de lesões oculares precoces é baixa. Exceptuando a catarata que pode ocorrer com alguma precocidade, a retinopatia clínica é raramente demosntrável antes do inicio da puberdade.