Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome.

PURPOSE: To describe the involvement of the lacrimal gland (LG) in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). DESIGN: Observational, cross-sectional study. PARTICIPANTS: Twenty-one patients with BPES (10 female, 11 male) aged on average 15 years (range, 2-39 years), from 3 Brazilian medical centers and 1 Portuguese medical center. METHODS: Patients had their ocular surface evaluated with slit-lamp biomicroscopy, and tear production quantified with the Schirmer test I. The LG volumes were measured on computed tomography (CT) scans in the BPES sample and in a group of age-matched subjects imaged for nonorbital diseases. Sixteen patients were screened for mutations in the FOXL2 gene. MAIN OUTCOME MEASURES: Lacrimal meniscus height, Schirmer test I, presence of superficial punctate keratopathy (SPK), LG volume, and molecular analysis of the FOXL2 gene. RESULTS: Absence of LG was detected bilaterally in 9 patients (42.8%) and unilaterally in 2 patients (9.5%). When considering only patients with measurable LG, the median volume was 0.22 cm3 in the right eye (range, 0.06-0.36 cm3) and 0.24 cm3 in the left eye (range, 0.08-0.34 cm3). These values were significantly lower than those for the age-matched controls (median = 0.54 right eye and 0.53 left eye; P < 0.05). There was a significant association between deficiency of tear production and LG volume reduction and agenesis. Molecular analysis of the FOXL2 gene revealed the presence of 8 distinct mutations, 4 of them novel ones. A significant reduction of LG size or agenesis was associated with mutations affecting protein size (due to underlying changes in the stop codon location) or the DNA-binding forkhead domain (Fisher exact test, P = 0.021). In 3 probands, the underlying genetic defect was not found. CONCLUSIONS: This is the first study reporting LG volumes in BPES, describing a significant number of patients with LG agenesis. The association between alacrima and BPES is not incidental, and a thorough evaluation of tear production is recommended especially if ptosis surgery is planned.

Torpedo maculopathy with an anisometropic amblyopia in a 5-year-old Caucasian girl: case report.

The aim of this study is to report a clinical case of asymptomatic female Caucasian children with torpedo maculopathy. A 5-year-old girl was referred to our clinic for routine evaluation. The ophthalmic examination revealed best-corrected visual acuity of 20/20 in both eyes, without any changes in the biomicroscopy. Fundus examination showed normal findings in one eye, whereas in the contralateral eye it disclosed, in the temporal sector of the macular region, a whitish, atrophic, oval chorioretinal lesion with clearly defined margins. Posterior evaluations documented the stability of the lesion. Torpedo maculopathy diagnosis is based on its characteristic shape and peculiar location. The differential diagnosis has to be established versus choroidal lesions (melanoma and nevus), congenital or iatrogenic hyperplasia of the retinal pigment epithelium (RPE) and particularly versus the congenital pigmented lesions associated with Gardner's syndrome.

Higher order aberrations in amblyopic children and their role in refractory amblyopia / Aberrações de alta ordem em crianças com ambliopia e seu papel na ambliopia refratária

Objective: Some studies have hypothesized that an unfavourable higher order aberrometric profile could act as an amblyogenic mechanism and may be responsible for some amblyopic cases that are refractory to conventional treatment or cases of “idiopathic” amblyopia. This study compared the aberrometric profile in amblyopic children to that of children with normal visual development and compared the aberrometric profile in corrected amblyopic eyes and refractory amblyopic eyes with that of healthy eyes. Methods: Cross-sectional study with three groups of children – the CA group (22 eyes of 11 children with unilateral corrected amblyopia), the RA group (24 eyes of 13 children with unilateral refractory amblyopia) and the C group (28 eyes of 14 children with normal visual development). Higher order aberrations were evaluated using an OPD-Scan III (NIDEK). Comparisons of the aberrometric profile were made between these groups as well as between the amblyopic and healthy eyes within the CA and RA groups. Results: Higher order aberrations with greater impact in visual quality were not significantly higher in the CA and RA groups when compared with the C group. Moreover, there were no statistically significant differences in the higher order aberrometric profile between the amblyopic and healthy eyes within the CA and RA groups. Conclusions: Contrary to lower order aberrations (e.g., myopia, hyperopia, primary astigmatism), higher order aberrations do not seem to be involved in the etiopathogenesis of amblyopia. Therefore, these are likely not the cause of most cases of refractory amblyopia. .

Objetivo: Alguns estudos levantaram a hipótese de que um perfil aberrométrico de alta ordem desfavorável poderia ser um fator ambliogênico, responsável por certos casos de ambliopia “idiopática” ou refratária ao tratamento convencional. Este trabalho tem como objetivos: 1) comparar o perfil aberrométrico de crianças amblíopes com o de crianças com desenvolvimento visual normal; 2) comparar a aberrometria de olhos amblíopes tratados com sucesso/curados e olhos amblíopes refratários ao tratamento convencional com a aberrometria de olhos saudáveis. Métodos: Estudo transversal com três grupos de crianças: grupo CA (22 olhos de 11 crianças com ambliopia unilateral curada), grupo RA (24 olhos de 13 crianças com ambliopia unilateral refratária) e grupo C (28 olhos de 14 crianças com desenvolvimento visual normal). Avaliou-se a aberrometria ocular total utilizando o OPD Scan-III (NIDEK). Comparou-se o perfil aberrométrico dos três grupos de estudo bem como dentro dos grupos CA e RA, o olho amblíope com o saudável. Resultados: As aberrações de alta ordem com maior impacto na qualidade visual não foram significativamente superiores nos grupos CA e RA, comparativamente ao grupo C. Por outro lado, não se encontraram diferenças estatisticamente significativas entre o perfil aberrométrico de alta ordem dos olhos amblíopes e dos olhos sãos dentro dos grupos CA e RA. Conclusão: Contrariamente às aberrações de baixa ordem (miopia, hipermetropia, astigmatismo primário), as de alta ordem não parecem relacionar-se com a etiopatogênese da ambliopia. É também pouco provável que estas sejam a causa da maioria dos casos de ambliopia refratária. .

Torpedo maculopathy with an anisometropic amblyopia in a 5-year-old Caucasian girl: case report / Maculopatia torpedo numa criança caucasiana de 5 anos de idade com ambliopia anisometrópica: relato de caso

The aim of this study is to report a clinical case of asymptomatic female Caucasian children with torpedo maculopathy. A 5-year-old girl was referred to our clinic for routine evaluation. The ophthalmic examination revealed best-corrected visual acuity of 20/20 in both eyes, without any changes in the biomicroscopy. Fundus examination showed normal findings in one eye, whereas in the contralateral eye it disclosed, in the temporal sector of the macular region, a whitish, atrophic, oval chorioretinal lesion with clearly defined margins. Posterior evaluations documented the stability of the lesion. Torpedo maculopathy diagnosis is based on its characteristic shape and peculiar location. The differential diagnosis has to be estabilished versus choroidal lesions (melanoma and nevus), congenital or iatrogenic hyperplasia of the retinal pigment epithelium (RPE) and particularly versus the congenital pigmented lesions associated with Gardner's syndrome.

Os autores descrevem um caso clínico de uma criança caucasiana, 5 anos do sexo feminino, com maculopatia torpedo. Ao exame oftalmológico apresentava uma acuidade visual corrigida de 10/10 e sem alterações à biomicroscopia. À fundoscopia apresentava uma lesão oval isolada, esbranquiçada, atrófica, unilateral, de margens bem definidas no setor temporal da região macular. Avaliações posteriores documentaram a estabilidade da lesão. O diagnóstico da maculopatia torpedo baseia-se na sua forma característica e localização peculiar. É importante o diagnóstico diferencial com lesões da coroideia (melanoma e nevo), hiperplasias congênitas ou iatrogênicas do epitélio pigmentado da retina (EPR) e com lesões congênitas associadas à síndrome de Gardner.