Spectrum approach to congenital ectropion / Abordagem espectral do ectrópio congênito

ABSTRACT In the literature, there is a confusing classification among congenital floppy eyelid, eyelid eversion and ectropion. They are described as eyelid malposition with laxity and out-turning of the eyelids in newborns, usually associated with conjunctival prolapse and chemosis. Although the underlying pathophysiology of these rare conditions is obscure, they share anatomic characteristics. Thus, instead of a plethora of denominations, a spectrum approach should join these entities. In this paper, the authors present a case series of four patients that illustrates distinctive presentations of this condition and advocate that it should be considered as variants of a spectrum of congenital ectropion. Mild cases, when promptly treated, can benefit from clinical treatment. On the other hand, severe and delayed cases will need surgical correction as in the case of acquired ectropion.

RESUMO Na literatura, existe uma classificação confusa entre floppy eyelid congênita, eversão palpebral e ectrópio congênito. Essas afecções são similarmente descritas como pálpebras frouxas e evertidas em recém-nascidos e geralmente associadas a prolapso de conjuntiva e quemose. Embora a fisiopatologia dessas raras afecções seja incerta, elas apresentam íntimas características anatômicas em comum. Assim, ao invés dessa nomenclatura variada, seria interessante incluí-las em um espectro de uma só doença. Neste artigo. apresenta-se uma série de quatro casos que ilustram diferentes apresentações dessa afecção e propõe-se que todas devam ser consideradas variações do espectro de ectrópio congênito. Casos leves são beneficiados quando tratados precocemente. Por outro lado, casos mais graves ou que são tratados tardiamente necessitarão de procedimento cirúrgico semelhante ao ectrópio adquirido.

Abordagem conservadora do ectrópio palpebral congênito / Conservative management of congenital eversion of the eyelids

Resumo Ectrópio palpebral congênito é o termo utilizado para descrever a ocorrência da eversão das pálpebras, seja ela superior ou inferior, presente ao nascimento. Trata-se de uma afecção rara com reduzido número de casos publicados no meio científico desde 1896, ano em que o primeiro relato foi documentado. O objetivo desse trabalho é descrever um caso de abordagem conservadora do Ectrópio Palpebral Congênito, evidenciando as suas principais características, importância do diagnóstico precoce e conduta adequada para o seu tratamento. Este é um estudo transversal, retrospectivo e documental baseado na metodologia de relato de caso que envolve um recém-nascido do sexo feminino que apresentou eversão palpebral unilateral e foi tratada de maneira conservadora, obtendo melhora do quadro com satisfatório resultado estético e funcional.

Abstract Congenital eyelid ectropion is the term used to describe the eversion of the eyelids, be it in the upper or lower lid, present at birth. It is a rare condition with a reduced number of cases published in scientific world since 1896, the year it was first reported. The objective of this work is to describe a case of Congenital Ectropion treated conservatively, emphasizing its main characteristics, importance of early diagnosis and appropriate treatment. This is a cross-sectional, retrospective and documentary study based on the methodology of case report involving a female newborn who presented unilateral palpebral eversion at birth and was treated conservatively, showing a satisfactory and functional improvement of the condition.

Trochlear-oculomotor synkinesis: another congenital cranial dysinnervation disorder? / Sincinesia troclear-oculomotora: outro distúrbio congênito de denervação craniana?

ABSTRACT This report documents an unusual phenomenon. A 6-year-old girl with trochlear-oculomotor synkinesis presented with superior oblique and palpebral levator co-contraction. The literature was reviewed and the possibility of classifying this entity as a congenital cranial dysinnervation disorder was speculated.

RESUMO Este relato descreve um fenômeno incomum. Uma menina de 6 anos com sincinesia troclear-oculomotora apresentou co-contração do oblíquo superior e do levantador da pálpebra. A literatura foi revisada e especulou-se a possibilidade de classificar essa desordem como um distúrbio da congenital cranial dysinnervation disorder.

Do you know this syndrome? Ascher´s syndrome: clinical findings of little known triad

Abstract: Ascher's syndrome consists of double lip, blepharochalasis and sometimes non-toxic thyroid enlargement. It is a rare, benign, rarely reported, and sometimes misdiagnosed condition that most often affects patients under 20 years old. The etiology remains unknown, although factors such as trauma, hormonal dysfunction and heredity have been suggested. Treatment based on surgical intervention is indicated to improve aesthetics or function. The presented case shows a patient diagnosed with Ascher's syndrome based on clinical findings such as double lip and blepharochalasis.

Criptoftalmos bilateral / Bilateral cryptophthalmos

El criptoftalmos se origina por un defecto congénito en la migración de la cresta neural que da lugar a un desarrollo anormal de los párpados y de las estructuras oculares anteriores. Se presenta la evolución de un lactante masculino de 6 meses de edad con criptoftalmos. Al examen oftalmológico se constata agenesia de los párpados. La piel transcurre desde la frente pasando por encima del esbozo de los globos oculares hasta la mejilla y ausencia de toda la arquitectura palpebral. El resto de las estructuras faciales son normales. El diagnóstico fue basado en la historia clínica y la realización de pruebas como la ecografía ocular, la tomografía axial computadorizada de órbita y cráneo, así como otros estudios, los cuales confirman el diagnóstico(AU)

Cryptophthalmos comes from a congenital defect in the neural crest migration that gives rise to abnormal development of eyelids and of the anterior ocular structures. Here is the case of a male 6 months-old infant with cryptophthalmos. The ophthalmological exam revealed eyelid agenesis. The infant´s skin went down from the forehead, passing over the eyeball up to the cheek, but the eyelid architecture was absent. The rest of the facial structures were normal. The diagnosis was based on the medical history and some tests as the ocular echography, the orbit and cranial computerized tomography and other studies which confirm the diagnosis(AU)

Apresentação atípica da oftalmopatia de Graves / Atypical presentation of Graves’ ophthalmopathy

A oftalmopatia de Graves é a doença orbitária mais comum e acomete 25 a 50% dos pacientes portadores da Doença de Graves e é mais frequente no sexo feminino, entre a segunda e quinta décadas de vida. A doença apresenta uma fase aguda e uma crônica, evoluindo lenta e progressivamente até estabilizar, sendo raros os casos de resolução espontânea. O tratamento dependerá da fase em que a doença se encontra e está baseado principalmente na corticoterapia via oral e endovenosa e/ou radioterapia, sendo a colchicina empregada em casos isolados. No seguinte relato de caso, abordaremos uma forma atípica de manifestação clínica da Oftalmopatia de Graves em paciente eutireoideia com anticorpos negativos na sua apresentação inicial.

Graves ‘ophthalmopathyis themost commonorbital diseaseand affects25-50% of the patients withGraves’ disease. It`s morecommon in females, between the second andfifth life`s decade. The disease hasanacute andachronic stage, slowly progressing until it stabilizes, with rarecasesof spontaneous resolution.The treatment depends on thestage andthe disease ismainly treated withoralor intravenous corticosteroids with or without radiotherapy;colchicine is usedin individual cases. In the followingcase report, we discuss an atypicalmanifestation ofGraves’ ophthalmopathyin an euthyroid patientwith negative antibodiesin the inicial presentation.

Tratamento cirúrgico da blefaroptose congênita / Surgical treatment of congenital blepharoptosis

A blefaroptose é o posicionamento inadequado da pálpebra superior, estando abaixo de sua posição normal na posição primária do olhar, a qual seria 0,5 – 2mm abaixo do limbo superior. Pode causar bloqueio parcial ou completo do campo visual superior, além do comprometimento estético. As causas são categorizadas em congênitas ou adquiridas. É considerada congênita se presente ao nascimento ou diagnosticada no primeiro ano de vida. As principais técnicas utilizadas para o tratamento da ptose congênita são a ressecção da aponeurose do músculo levantador da pálpebra superior (MLPS) e a suspensão frontal. A medida da função do MLPS é o parâmetro mais importante na escolha da técnica cirúrgica. Quando a função é fraca, a suspensão frontal é mais indicada; a ressecção supramáxima do MLPS também pode ser empregada. Acima de 4 ou 5mm de função do MLPS, prefere-se a ressecção da aponeurose. Para a cirurgia de suspensão frontal, vários são os materiais utilizados, portanto apresentamos uma comparação entre os estudos mais relevantes. Discutiremos também particularidades em casos mais complicados, como as Síndromes da Blefarofimose e de Marcus-Gunn, além de técnicas cirúrgicas menos utilizadas e as complicações relatadas.

The blepharoptosis is the improper positioning of the upper eyelid, being below its normal position in primary gaze, which is 0.5 - 2mm below the superior corneal limbus. It may block partially or completely the upper visual field, and lead to aesthetic commitment. The causes are categorized as congenital or acquired. It is considered congenital if present at birth or diagnosed during the first year of life. The main techniques used for the treatment of congenital ptosis are the resection of the levator muscle aponeurosis and the frontalis suspension. The function of the levator muscle is the most important parameter to define the surgical technique. When the function is weak, the frontalis suspension is more appropriate; the supra-maximal resection of the levator muscle may also be employed. With function above 4 or 5mm, the resection of the aponeurosis is preferred. For the frontalis suspension surgery, various materials can be used, so we present a comparison of the most relevant studies. We also discuss some characteristics in more complicated cases, such as the Blepharophimosis syndrome and the Marcus-Gunn syndrome, and surgical techniques less performed and complications reported.

Syndrome in Question

Hay-Wells syndrome or AEC (Ankyloblepharon, Ectodermal dysplasia and Cleft lip and palate syndrome) is a rare ectodermal disorder. The treatment is aimed to prevent clinical complications. We describe the case of a four-month old male patient with erosions on the scalp, trunk and arms, trachyonychia, deformity of the ears, micropenis, cleft palate, decreased eyebrow and eyelash hairs, in addition to antecedents of surgical correction of ankyloblepharon. The importance of the correct diagnosis is emphasized, besides the investigation of the associated diseases, treatment of complications and genetic counseling of the parents.

Tratamento de ptose palpebral congênita pela técnica de Lester Jones / Treatment of congenital ptosis by using the Lester Jones technique

A ptose palpebral ou blefaroptose caracteriza-se pela disfunção, ou inabilidade do paciente em realizar a abertura da fenda palpebral de maneira normal. Geralmente é decorrente do acometimento do músculo levantador da pálpebra; a forma congênita ocorre em 60% a 70%. No presente trabalho é descrito um caso de ptose palpebral congênita moderada em uma paciente de nove anos, com boa função do músculo levantador da pálpebra, em olho esquerdo. A paciente foi submetida a tratamento cirúrgico pela técnica de Lester Jones, indicada nos casos de ptose de grau moderado, apresentando um resultado estético e funcional satisfatório.

Palpebral ptosis or blepharoptosis is characterized by the dysfunction or inability of the patient to normally open the palpebral fissure. Usually, it is due to the involvement of the eyelid levator muscle. The congenital form occurs in 60%-70% of cases. In this study, we describe a case of moderate congenital palpebral ptosis in a 9-year-old patient who presented with a good eyelid levator muscle function in the left eye. The patient underwent surgical treatment with the Lester Jones technique, as indicated for cases of moderate ptosis, and achieved satisfactory aesthetic and functional results.

Ocular Findings in Children with Single Umbilical Artery: A Case Series of 14 Children

PURPOSE: Single umbilical artery (SUA) is the most common malformation of the umbilical cord. However, there have been no studies on the ocular findings in SUA, except for one case report. This study aimed to investigate the ocular findings in children with SUA. METHODS: Fourteen children (eight boys and six girls) with SUA were evaluated retrospectively. All children underwent a complete ophthalmologic examination. RESULTS: The prevalence of abnormal ocular findings in children was up to 42.9%. Refractive errors are detected in four eyes (14.3%): myopia > or =-1.50 diopters (D) in one eye (3.6%) and hyperopia > or =+2.00 D in three eyes (10.7%). Epiblepharon was found in three children (21.4%), and strabismus was detected in one child (7.1%). CONCLUSIONS: Approximately half of the children with SUA showed abnormal ocular findings, therefore, our case series highlight the need for a comprehensive ocular examination and larger prospective research studies in young patients with SUA.

Single stage surgery for Blepharophimosis syndrome.

Purpose: The purpose of this study was to report the functional and cosmetic outcome of single stage surgical procedure for correction of the classic components of Blepharophimosis syndrome. Materials and Methods: We report a retrospective case file review of 11 patients with Blepharophimosis syndrome operated between July 2004 and April 2008. Each patient had undergone the correction of epicanthus inversus, telecanthus, palpebral phimosis, and bilateral ptosis as a single-stage surgical procedure. Patients were examined and photographed before and after surgery. The mean follow-up was 3 years (range 2-6 years). Results: A total of 11 patients (8 males, 3 females) with a mean age of 9 years (range 6--22 years) were reviewed. The surgical outcome was assessed both functionally and cosmetically. The mean preoperative visual acuity was 0.729 ± 0.316 SD and the mean postoperative visual acuity was 0.856 ± 0.277 SD (P <0.0428). There was a statistically significant decrease of astigmatism following ptosis correction (P<0.05), improvement of telecanthus (P<0.0001) in terms of IICD (inner intercanthal distance), and HPFL (horizontal palpebral fissure length) (P=0.019) along with improvement of the superior visual field. The mean preoperative and postoperative IICD was 3±0.33 SD and 2.418 ± 0.189 SD, respectively. There was also a significant postoperative improvement of ptosis (P< 0.01), as measured by IPFH (vertical interpalpebral fissure height). All the patients had a stable functional and cosmetic result after a mean follow-up period of 3 years. Conclusion: Single-stage surgical correction of the classic anomalies of Blepharophimosis syndrome provides stable and successful long-term results.

Outcomes of Levator Resection at Tertiary Eye Care Center in Iran: A 10-Year Experience

PURPOSE: To assess outcomes of levator resection for the surgical correction of congenital and acquired upper lid ptosis in patients with fair to good levator function and evaluation of the relationship between demographic data and success of this operation. METHODS: In a retrospective study, medical records of patients with blepharoptosis who had undergone levator resection over a 10-year period and were followed for at least 3 months were reviewed. RESULTS: Overall, 136 patients including 60 (44.1%) male and 76 (55.9%) female subjects with a mean age of 20 +/- 13.8 years (range, 2 to 80 years) were evaluated, of whom 120 cases (88.2%) had congenital ptosis and the rest had acquired ptosis. The overall success rate after the first operation was 78.7%. The most common complication after the first operation was undercorrection in 26 cases (19.1%), which was more prevalent among young patients (p = 0.06). Lid fissure and margin reflex distance (MRD1) also increased after levator resection (p < 0.001). Age, sex, type of ptosis, amblyopia, levator function, MRD1, lid fissure and spherical equivalent were not predictive of surgical outcomes of levator resection. CONCLUSIONS: Levator resection has a high rate of success and few complications in the surgical treatment of congenital and acquired upper lid ptosis with fair to good levator function. Reoperation can be effective in most cases in which levator resection has been performed.

Nasopalpebral lipoma coloboma syndrome.

Nasopalpebral lipoma–coloboma syndrome is characterized by nasopalpebral lipoma and eyelid coloboma. We report a case of a 16-year-old Indian girl who reported to us with this rare syndrome. Computed tomography scan showed a significantly hypodense lesion on the right side of nose which was confirmed to be a lipoma on histopathological examination. This condition should be included in differential diagnosis of conditions with congenital eyelid coloboma.

Correção das retrações palpebrais secundárias à blefaroplastia / Management of lower eyelid malposition following blepharoplasty

A retração palpebral nos seus diversos graus é uma complicação temida, mas frequentemente observada no pós-operatório da blefaroplastia inferior. Pode se apresentar desde uma discreta esclera aparente até um grave e sintomático ectrópio. Objetivo: Sistematizar o tratamento das retrações palpebrais secundárias à blefaroplastia nos seus diversos graus. Métodos: Três grupos foram divididos pela gravidade e tipo de retração palpebral, que orientaria o tratamento a ser recebido. No grupo 1, foram incluídas as retrações palpebrais confinadas ao canto lateral. Este grupo foi tratado com cantoplastia. No grupo 2, foram incluídas as alterações de canto lateral e terço medial da pálpebra causadas por deficiência da lamela média, anterior ou uma combinação entre as duas, mas que não causavam eversão da margem palpebral. Este grupo foi submetido a cantoplastia com retalho de tarso, perfuração lateral da órbita e liberação das retrações da lamela. No grupo 3, foram incluídos pacientes com evidente retração de lamela média, anterior ou uma combinação entre as duas, causando ectrópio franco. Esses pacientes foram submetidos à cantoplastia com retalho de tarso, liberação das retrações da lamela média e enxerto de mucosa de palato duro como espaçador (spacer graft). Resultados: A abordagem sugerida efetivamente corrigiu o mau posicionamento palpebral inferior e melhorou a sintomatologia nos três grupos propostos. Conclusão: O correto diagnóstico das causas da retração palpebral permite a escolha do tratamento adequado. Mais importante que o tratamento, no entanto, é a profilaxia deste tipo de complicação, que só é alcançada após entendimento amplo da anatomia periorbitária e avaliação meticulosa pré-operatória da função tarso ligamentar e outros parâmetros envolvidos.

Lower eyelid malposition is one of the most common complications following lower eyelid blepharoplasty. This may take the form of a mild scleral show with the round eye syndrome or may progress to frank ectropion in some patients. Objective: This study intended to systematically approach inferior lid malposition based on the severity and ethiopatogeny of each case. Methods: Inferior lid retraction was divided in 3 groups based on severity and ethiopatogeny that would guide the treatment. Group 1 had inferior displacement of the lid only on the canthal/ lateral aspect. Canthoplasty was performed in this group; Group 2 included retraction confined to the medial and lateral aspect of the lower eye lid with involvement of medial and/or anterior lamella but with no ectropion. Drill hole canthoplasty with tarsal strip and release of posterior lamellar scaring. Group 3 included patients with 2 or more lamella involved and ectropion. In this group, a Drill hole canthoplasty with tarsal strip, release of posterior lamellar scaring and hard plate mucosa spacer graft was performed. Results: The used approach effectively corrected the inferior lid malposition with release of the referred symptoms. Conclusion: Appropriate surgery, which is determined on the basis of the preoperative evaluation, has allowed for the correction of these previously difficult-to-treat lower eyelid malposition with minimal complications. Despite successful correction a pre operative evaluation is paramount to avoid complications in the lower eyelid surgery.

Internal cantholysis for full thickness eyelid defects

Eyelid reconstruction requires an understanding of normal eyelid anatomy and function. A thorough understanding of the basic anatomy, contour, and mobility of the eyelids is essential in restoring the tissue to its presurgical level. There are many different surgical options to assist in the repair of full thickness eyelid defects involving the margin. Direct wound closure depends on eyelid laxity and is often possible with smaller defects. Moderate to larger sized defects are often under undue wound tension if direct closure is attempted. We have developed a new technique for closure of eyelid defects using a transconjunctival cantholysis to release the lateral canthal tendon cruces, thereby avoiding the external incision while still allowing for eyelid mobility. Using this technique for defects 15 mm in horizontal eyelid margin length or greater, we have found positive results. Direct closure of eyelid defects represents the most straightforward technique to repair any full-thickness eyelid defect and provides maximal functional and cosmetic results. Internal cantholysis represents an excellent option for repairing smaller and even larger full thickness eyelid defects. Eyelid mobility increases by 4-10 mm, sometimes more, and allows for closure of defects larger than even 20 mm

Muller's muscle conjunctival resection ptosis repair in the aesthetic patient

Posterior eyelid ptosis repair via the Muller's muscle-conjunctival resection procedure is an effective, reliable, and simple technique for periorbital rejuvenation in the aesthetic patient. This procedure may be performed with other periorbital rejuvenation techniques without sacrificing results. Appropriate candidates are patients with maintained levator function whose ptotic upper eyelid elevates close to a normal eyelid level upon instillation of phenylephrine drops to the superior conjunctival fornix

Ectodermal dysplasia showing the clinical overlap between Hay Wells syndrome and Bowen Armstrong syndrome

Several clinical entities combine ectodermal dysplasia [ED] and cleft lip and/or palate [CL/P]. These disorders have been recognized with a narrow phenotypic spectrum and very similar clinical features. We report a case with a clinical diagnosis of Hay Wells syndrome [ankyloblepharon, ED and CL/P], who is a descendent of a mother with Bowen Armstrong syndrome [ED, CL/P, mental retardation]. Due to the clinical similarities, we suggest that Hay Wells syndrome and Bowen Armstrong syndrome may be the same clinical entity with variable manifestations. This case highlights the difficulties in trying to classify the ED syndromes on clinical features

The Effect of Epiblepharon Surgery on Visual Acuity and With-the-Rule Astigmatism in Children

PURPOSE: To evaluate the effect of epiblepharon surgery on visual acuity and with-the-rule astigmatism in children compared to patients without surgical treatment. METHODS: We undertook a retrospective case control study and reviewed the charts of 202 eyes treated with epiblepharon surgery and of 142 eyes without surgery. The surgical procedure for epiblepharon correction used rotating suture techniques. Data regarding age, best corrected visual acuity, and degree of astigmatism were recorded. Baseline and 1-, 3-, 6-, and 12-month postoperative data were collected. The chi-square test, Student's t-test and general linear model analysis for repeated measures were applied. RESULTS: The mean astigmatism in the surgical group decreased from 1.10 +/- 1.02 diopter (D) preoperatively to 0.84 +/- 1.05 D at 3 months after surgery (p < 0.05). However, there was no statistically significant difference compared to the non-surgical group during the first year. The general linear model analysis comparing the mean astigmatism between the two groups over time showed a significant group-time interaction (p < 0.05). Within the surgical group, the higher baseline astigmatic subgroup and the 5- to 8-year-old group demonstrated greater cylinder reduction over time. The change in mean visual acuity was not significant in either group. CONCLUSIONS: Significant astigmatic reduction was found after surgical correction in epiblepharon patients. Patients with higher baseline astigmatism exhibited greater astigmatic reduction after epiblepharon surgery. These results suggest that, in order to reduce astigmatism, an epiblepharon operation should be considered in patients with a high level of astigmatism.