[Painful anisocoria in a five-year-old child: A rare diagnosis which must not be missed]. / Anisocorie douloureuse chez un enfant de cinq ans : un diagnostic rare à ne pas méconnaître.

Congenital ectropion uveae (CEU) is a rare anomaly of the embryonic development of the anterior segment of the eye. We report the case of a 5-year-old child with an undiagnosed CEU who was treated urgently for an acute angle closure attack. CASE DESCRIPTION: A 5-year-old child was referred urgently for evaluation of anisocoria with mydriasis of the right eye and severe headache. Brain imaging with contrast injection was initially performed in the pediatric emergency department and ruled out central nervous system pathology. The initial examination of the right eye revealed an intraocular pressure (IOP) of 37mmHg, corneal edema, congenital ectropion uveae, mydriasis with pupillary block, a closed angle on gonioscopy, and a clear lens. The examination of the left eye was unremarkable, with no visible CEU. The initial management consisted of medical treatment with topical glaucoma drops and miotics and acetazolamide at 10mg/kg/d. Re-evaluation under general anesthesia showed persistent mydriasis and no resolution of the pupillary block. Filtering surgery was performed in the absence of a complete response to medical treatment, allowing control of IOP without drops and complete regression of the corneal edema. DISCUSSION: CEU is a rare malformation, and pressure complications represent an insignificant proportion of pediatric glaucoma cases. The acute presentation of acute angle closure in this potentially blinding short-term setting, however, makes detection and management difficult in very young children in a great deal of pain. Only one similar case has been reported in the pediatric literature. CONCLUSION: Acute angle closure complicating CEU is exceptional and difficult to diagnose in a pediatric context. Parents of children with this predisposing condition should be informed of the need to consult urgently when clinical signs of elevated intraocular pressure appear.

Unilateral advanced glaucoma in isolated congenital ectropion uveae with ipsilateral ptosis: A pictorial description of five children.

Aim: To report the cases of five children with unilateral advanced glaucoma in isolated congenital ectropion uveae (CEU) with ipsilateral ptosis and myopia. Methods: This is an ambispective observational case series. After diagnosing one patient with CEU and glaucoma, consecutive patients presenting with unilateral ptosis, congenital iris anomaly, and glaucoma between 2014 to 2020, and had completed a minimum one-year postoperative follow-up, were analyzed. Results: Of the 1421 newly registered pediatric glaucoma patients in the period under review, five children were diagnosed with CEU. All patients presented with gradual painless diminution of vision in the left eye in early adolescence. The left eye of all patients had peculiar clinical features: mild congenital ptosis, high iris insertion, crypt-less smooth iris surface, congenital ectropion uveae, pigments over anterior lens capsule, high myopia, advanced glaucomatous optic disc cupping, and very high intraocular pressure (IOP), which was > 45 mmHg in all cases. The right eye showed signs of angle dysgenesis with mild anterior iris insertion and numerous fine iris processes. Antiglaucoma medications and angle surgery failed to control the IOP, and all children required glaucoma filtration surgery, resulting in reasonable IOP control. Despite the older age, postoperative strict amblyopia treatment resulted in significant improvement in vision. Conclusions: Although ectropion uveae and ptosis have been present since birth, unilaterality, and the asymptomatic nature of the disease led to the late presentation with irreversible damage. Early surgical management and amblyopia therapy are the cornerstones of management. Abbreviations: CEU = Congenital ectropion uvea, CIES = Congenital Iris Ectropion Syndrome, ASD = Anterior segment dysgenesis syndrome, BCVA = Best-corrected visual acuity, IOP = Intraocular pressure.

Neonatal-Onset Congenital Ectropion Uveae May Be Caused by a Distinct CYP1B1 Pathologic Variant.

PURPOSE: To report underlying genetic variants of recently described distinct phenotype of newborn glaucoma: neonatal-onset congenital ectropion uveae (NO-CEU). DESIGN: Prospective cohort study. METHODS: Setting: tertiary care teaching institute. SUBJECTS: Thirteen children with clinical diagnosis of NO-CEU who had completed 1-year follow-up after glaucoma surgery and had undergone clinical exome sequencing (CES) by selective capture and sequencing of the protein-coding regions of the genes including 19 candidate genes for NO-CEU were assessed. The same criteria were applied for evaluating pathogenicity of variants to all the candidate genes. OUTCOME MEASURES: primary-genetic variants found on CES keeping in view the clinical indication of congenital glaucoma; secondary-corneal clarity and intraocular pressure (IOP) at baseline and 1-year follow-up, interventions required to control IOP, and postoperative visual acuity. The genetic variants were correlated with the outcome. RESULTS: All 13 patients diagnosed with NO-CEU had onset of glaucoma at birth and severe bilateral disease. Twelve of 13 (92.3%) patients harbored CYP1B1 variants. Nine of these 12 patients (83.3%) were homozygous for [c.1169G>A(p.Arg390His)] in exon-3 of CYP1B, with 5 common homozygous single-nucleotide polymorphisms flanking the pathogenic variant. They had intractable glaucoma and required multiple surgeries. Six patients had persistent corneal opacities, necessitating optical iridectomies. Three patients were compound heterozygous for CYP1B1 variants, showing [c.1169G>A(p.Arg390His)] along with [c.1103G>A(p.Arg368His)], [c.1103G>A (p.Arg368His)] along with [c.1403_1429dup(p.Arg468_Ser476dup)], and [(c.1063C>T(p.Arg355Ter)] along with [c.1325del(p.Pro442GlnfsTer15)]. These patients had better visual outcomes. CONCLUSIONS: NO-CEU appears to be a phenotypic marker for specific CYP1B1 genotypes, one of which is [c.1169G>A(p.Arg390His)] in our study population. Phenotype recognition is helpful to characterize the underlying genetic variants.

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.

Neonatal-Onset Congenital Ectropion Uveae: A Distinct Phenotype of Newborn Glaucoma.

PURPOSE: To describe neonatal-onset congenital ectropion uveae (N-CEU) as a distinct clinical entity of newborn glaucoma (NG) and to study its significance toward the severity and outcome of NG. DESIGN: Prospective clinical cohort study. METHODS: The study took place at a tertiary care postgraduate teaching institute. It included consecutive patients with NG who presented between July 1, 2016 and September 30, 2017, with a minimum postoperative follow-up of 1 year. Infants with any ocular anomaly apart from CEU were excluded. Patients with N-CEU were compared with those with neonatal-onset primary congenital glaucoma (N-PCG). All infants underwent goniotomy or trabeculotomy, with trabeculectomy depending on corneal clarity. Clinical features at presentation and outcome 1 year after surgery were defined as good or satisfactory if intraocular pressure was ≤16.0 mm Hg under anesthesia without or with topical medications, respectively, and poor if the infant required additional surgery. RESULTS: Twenty eyes of 10 patients with N-CEU were compared with 16 eyes of 9 patients with N-PCG. Infants with N-CEU had significantly worse corneal clarity (mean grade 2.0 ± 0.7 vs 1.4 ± 0.8; P = .026) and poorer outcomes compared with those with N-PCG. Seven of 16 (43.7%) eyes with N-PCG had a cornea clear enough at presentation for a goniotomy compared with only 2 of the 20 (10%) eyes with N-CEU (P = .026). Thirteen of 16 (81.2%) eyes with N-PCG had a good or satisfactory outcome compared with 6 of 20 (30%) eyes with N-CEU (P = .001). CONCLUSIONS: N-CEU appears to be distinct from the unilateral CEU in older patients described in the literature and may be considered a poorer prognosis phenotype of neonatal-onset glaucoma.

Congenital ectropion uveae (CEU) with refractory glaucoma: Early trabeculectomy saves vision.

We report the case of congenital ectropion uveae in a 10-year-old boy with intractable unilateral glaucoma but no systemic association. Glaucoma in congenital ectropion uveae is often poorly responsive to medial therapy and requires surgical intervention. Satisfactory results are possible if diagnosis is established early and timely surgery performed, as was the case in our patient.

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.

Non-surgical management of congenital ichthyosis using hyaluronic acid gel injection.

AIM: To test if hyaluronic acid gel injection in the upper eyelid achieves correction of congenital cicatricial ectropion and reduction in lagophthalmos, in preparation for intraocular surgery. METHODS: This case reports the long-term outcome of hyaluronic acid gel injection in the upper eyelid for the correction of ectropion prior to cataract surgery. One millilitre of hyaluronic acid gel was injected in both the upper eyelids of a child with congenital ichthyosis in the suborbicularis plane, prior to cataract surgery. RESULTS: Lagophthalmos reduced by 15 mm in the right eye and 13 mm in the left eye. Subsequently, the child underwent cataract surgery without any complications. CONCLUSION: We demonstrate the long-term outcome of using hyaluronic acid gel injection for successful, non-surgical correction of cicatricial ectropion in ichthyosis.

Conservative management of congenital upper eyelid eversion.

We report 2 cases of congenital upper eyelid eversion and highlight nonsurgical treatment options, including a novel approach.

Congenital Bilateral Eyelid Eversion and Chemosis: A Case Study.

This case reports the findings and management of a late preterm female infant born with congenital bilateral eyelid eversion with chemosis. The pathogenic process remains unknown but typically presents at birth, predominantly affecting the upper eyelid of both eyes. Black males, patients with trisomy 21, and collodion infants have a higher incidence of eyelid eversion. Treatment modalities range from conservative therapy including eye patching with antibiotic and lubricating ointment to invasive surgical eyelid suturing. In this case report, successful resolution of chemosis and eyelid inversion occurred with conservative management.

Congenital ectropion uveae with glaucoma: a case report.

Congenital ectropion uveae (CEU) is a rare anomaly characterized by ectropion uveae, iris hypoplasia, iridotrabecular dysgenesis and glaucoma. The apparent ectropion uveae results from the spread of iris pigment epithelium beyond the iris ruff and onto the anterior surface of the iris. Conclusion Open-angle glaucoma results due to angle dysgenesis, so patients should be carefully examined periodically for its early detection.

Newly identified paired box 6 mutation of variant familial aniridia: Congenital iris ectropion with foveal hypoplasia.

Congenital aniridia is a kind of eye disease characterized by complete or partial hypoplasia of the iris and is associated with other ocular anomalies including corneal opacity, glaucoma, and foveal hypoplasia. Heterozygous mutation of paired box 6 (PAX6) gene was identified in most cases of aniridia, with iatrogenic mutations accounting for about two-third of the cases and chromosomal rearrangements accounting for the other one-third. We report rare cases of variant aniridia, congenital iris ectropion associated with foveal hypoplasia in both a woman and her son with a mutation of PAX6 gene. To our knowledge, deletion c. 936delC in exon 8 of PAX6 gene has not been reported until now.

[Not Available]. / Een neonaat met een strakke huid.

A newborn had a tight, dry skin with multiple fissures, an eclabium and ectropion. Breathing was compromised and regulation of body temperature was impaired. We described the patient as a 'collodion baby'. After genetic investigation the diagnosis congenital ichtyosis, recessive type 1 was made. At 12 months of age, the skin symptoms were significantly diminished.

A young Botswana patient with congenital iris ectropion uvea.

Congenital iris ectropion is a rare condition; non-progressive anomaly characterised by the presence of iris pigment epithelium on the anterior surface of the iris stroma and is frequently associated with anterior iris insertion, dysgenesis of the drainage angle and glaucoma. This paper describes unusual case of bilateral case of congenital iris ectropion in adult patient with pupillary abnormality, normal anterior chamber angle structure and with no evidence of glaucoma.

Bilateral congenital upper eyelid eversion: the clinical course and outcome of conservative management.

A case of bilateral congenital upper eyelid eversion (CUEE) in an otherwise normal healthy 6 day old neonate of African descent (Nigeria). Pregnancy and delivery history were uneventful. The baby recovered completely 5 days after the commencement of conservative management. This case further gives credence to the usefulness of conservative therapy in the management of CUEE.

Congenital ectropion uveae presenting as acute glaucoma in a 3-year-old child.

Congenital ectropion uveae is a rare anomaly commonly associated with neurofibromatosis and occasionally with other ocular abnormalities. Glaucoma related with this condition may be present in infancy, or may develop later in life, and is thought to be due to an associated angle dysgenesis. Diagnosis is frequently delayed due to the subtle signs and the absence of symptoms and management is primarily surgical. We report an unusual case of unilateral congenital ectropion uveae in a 3-year-old child, with no evidence of neurofibromatosis, presenting as acute glaucoma, which was successfully managed by topical treatment only, avoiding surgical intervention.