The Spectrum of Associated Ocular and Systemic Malformations

The cases of Peters' anomaly seen over the past decade, at Hospital Ste-Justine in Montreal, are reviewed. Associated ocular anomalies were observed in 50% of cases while 60% of patients presented with associated systemic defects. It is clear, from these patients and those reported in the literature, that Peters' anomaly can be an isolated condition, or part of distinct syndromes: the Krause-Kivlin syndrome or the Peters'-plus syndrome. The authors emphasize the importance for the ophthalmologist to recognize these possibilities if proper management is to be provided.     

Congenital Corneal Opacities: A Review with a Focus on Genetics

Congenital corneal opacities present in approximately 3/100,000 newborns. Many different disorders may result in corneal opacifications of infancy, including Peters' anomaly (PA), congenital hereditary endothelial dystrophy (CHED), congenital hereditary stromal dystrophy (CHSD) and posterior polymorphous dystrophy (PPMD). Current studies have localized defects using genetic testing in PA, CHED, CHSD and PPMD. Identifying mutations for specific disorders may lead to better understanding of the underlying pathogeneses and may help with diagnosis and prognosis. This article will review the clinical presentations, treatments and genetics of Peters' anomaly, congenital hereditary endothelial dystrophy, congenital hereditary stromal dystrophy and posterior polymorphous dystrophy.     

Peters异常PITX2及PAX6基因型表型分析

目的：分析中国人Peters异常(PA)患者的临床特征,研究Peters异常患者PITX2及PAX6基因变异情况。

方法：选取2016/2019年在常州市第二人民医院及第三人民医院眼科就诊的15例Peters异常患者,并收集详细的相关临床资料。征得患者及其家系成员的同意后抽血制备基因组DNA,用聚合酶链反应(PCR)对致病基因PITX2及PAX6的编码区及其临接内含子进行扩增后,直接测序筛查中国人群Peters异常患者PITX2及PAX6基因变异,异源双链-单链构象多态性分析(HA-SSCP)的方法对突变患者及其家系成员及80例正常对照进行验证; 分析比较国内已报道的Peters异常患者PITX2及PAX6基因突变并研究其相关表型。

结果：Peters异常患者15例PITX2基因突变筛查结果发现了1种新PITX2的突变c.296delG(P.R99fsx56),导致该基因的功能异常,分析突变患者临床特征,该患者右眼诊断为Axenfeld-Rieger综合征(ARS),左眼诊断为Peters异常。而家系成员中该患者父母及无亲缘关系的正常对照者均未发现相同突变,故此突变为新生突变。PAX6基因突变筛查未能发现突变。

结论：PA患者15例中检测到1个新PITX2基因突变,丰富了PITX2基因突变频谱,进一步明确了PA合并ARS眼病的临床特点,为该种少见眼病的临床诊断和发病原因提供了依据。     

Stickler's syndrome associated with congenital glaucoma

A case report of Stickler's syndrome associated with congenital glaucoma is presented. Stickler's syndrome is an autosomal dominant disorder characterised by progressive arthropathy, midfacial flattening, Pierre Robin anomaly or cleft palate, sensorineural hearing loss, progressive myopia, vitreoretinal degeneration, and retinal detachment. Congenital glaucoma and Stickler's syndrome are two diagnoses frequently considered in high myopia in infancy. The case report described presents a case of Stickler's syndrome in association with congenital glaucoma. This association is unusual, but important to recognise in the neonatal period. The possibility of coexistence of these clinical entities should be considered in the future.     

A Simple and Easy Method Using Rigid Endoscope to Detect Iridocorneal and Keratolenticular Adhesions in Peters’ Anomaly

Peters’ anomaly is characterized by a central corneal opacity with corresponding defects in the posterior stroma, Descemet''s membrane, and endothelium. We present 2 cases that showed corneal opacity when examined by topical endoscopic imaging (TEI). Case 1 was a 20-day-old neonatal female who had a central corneal opacity in the left eye. TEI showed that the iris stroma was adhered toward the back of the opacified cornea. Case 2 was a 4-month-old male who had a bilateral corneal opacity. TEI revealed that both a keratolenticular adhesion and a surrounding iridocorneal adhesion were observed behind the area of corneal opacity. The patient was diagnosed as having Peters’ anomaly with persistent fetal vasculature. This study demonstrates that TEI is a novel method capable of looking into an eye from only a small area of the clear cornea.Key words: Peters’ anomaly, Iridocorneal adhesion, Topical endoscopic imaging     

Magnetic resonance imaging features of two cases of acquired Brown's syndrome

The action of the superior oblique muscle depends on both the contractile function of the muscle belly as well as the force transmission function of the tendon trochlea complex. Brown's syndrome is a restriction to elevation in adduction presumed due to an anomaly of the superior oblique tendon trochlea complex. This report presents two patients with an unusual restriction to elevation in adduction in the affected eye, and a clinical picture consistent with a Brown's syndrome. A non-invasive analysis of the functional anatomy of the superior oblique was performed using a high-resolution MRI with surface coils. Imaging in the first case revealed a cyst in the area of the right superior oblique tendon just posterior to the trochlea in primary position. The second patient had undergone reattachment of an avulsed trochlea after a dog bite (canine tooth syndrome). Imaging in the second case revealed scarring and connective tissue disruption around the tendon impeding muscle function. These findings provide distinct mechanical explanations for Brown's syndrome.     

Corneoscleral transplantation in congenital corneal staphyloma and Peters' anomaly

An infant born with bilateral corneal clouding diagnosed clinically as congenital anterior staphyloma and Peters' anomaly was confirmed histopathologically. This case report demonstrates one clinical spectrum of Peters' anomaly. The clinical course and histopathologic findings are detailed as is a unique surgical approach of corneoscleral graft used to perserve the right globe.     

Peters异常的临床特点及治疗

背景 Peters异常是临床上罕见的眼病,且容易与一些先天性眼科异常疾病相混淆.了解Peters异常的临床特征和治疗方法有助于对其进行及时的诊治,改善患者的预后. 目的 总结Peters异常患儿的临床体征和治疗方法,为其诊断和个性化治疗提供依据.方法 采用描述性研究方法,对2014年1月1日至2016年3月30日在北京儿童医院眼科诊治的Peters异常患儿4例8眼的临床资料进行回顾性分析.纳入的患儿均行手持裂隙灯显微镜下眼前段检查、角膜曲率和角膜厚度测定及眼轴长度和眼压测量,对患儿全身和眼部的临床特征及针对患儿的不同情况所采取的不同治疗方式进行总结和分析. 结果 根据患儿的眼部和全身表现及文献报道的标准可将Peters异常分为Ⅰ型、Ⅱ型和Peters plus综合征.从纳入患儿的临床特征来看,纳入的4例8眼均有角膜白斑、周边房角与角膜的粘连、前房较浅或消失,2例2眼仅有上述表现,属于Ⅰ型Peters异常;6例6眼除上述症状外,出现晶状体前囊中央混浊,并且前囊与角膜内皮粘连,属于Ⅱ型Peters异常.测量的4眼角膜厚度均较厚,平均为(680±127) μm;测量的4眼角膜曲率均平坦,平均为(37.40±1.79)D;测量的4眼眼轴均较短,长度为(21.06±0.19) mm;8眼角膜直径均较小,平均为(9.4±0.5) mm;4眼有虹膜缺损,4眼无虹膜;1例内斜,3例眼球震颤.3例患儿除Ⅱ型Peters异常眼部表现外,还存在全身神经源性发育异常,诊断为Peters plus综合征.根据患眼的具体情况制定治疗方案:术前眼压高于30 mmHg(1 mrnHg=0.133 kPa)的2眼行小梁切除术和前部玻璃体切割术,术后眼压降至21 mmHg以下;角膜中央明显混浊的1眼行穿透角膜移植术,术后1个月角膜植片发生排斥反应,术后3个月植片完全混浊;4眼合并晶状体混浊者行晶状体摘出术,2眼植入人工晶状体,2眼行光学虹膜切除术,术后视力均有所改善. 结论 Peters异常的主要临床特征是角膜白斑、浅前房和虹膜周边与角膜粘连,伴有晶状体混浊者一般是晶状体前囊膜混浊并与角膜内皮粘连.需要手术的患眼需要根据具体情况个性化设计手术方案.     

Aniridia,atypical iris defects,optic pit and the morning glory disc anomaly in a family

A two-month-old girl with aniridia was found to have an optic pit in one eye and the morning glory disc anomaly in the other eye. The patient's mother had corectopia and atypical iris defects. The findings are described and the embryology of the various abnormalities briefly reviewed. This is the first report of such an association of findings in a family with aniridia. Failure of normal neuroectodermal development may play a role in the development of optic pits and the morning glory disc anomaly.     

Congenital dacryocystocele with intranasal extension

PURPOSE: Congenital dacryocystocele is a rare anomaly in the newborn child. The swelling of lachrymal sac is observed by birth and it is associated with obstruction of lachrymal system either above or below lachrymal sac. METHODS. Diagnosis was made by clinical observation. Some ancillary examinations, such as ultrasonography, tomography, and rhinoscopy, were useful. RESULTS. The authors describe the clinical case of a newborn with a unilateral congenital dacryocystocele. This anomaly was successfully treated with probing and marsupialization of the nasal cyst. CONCLUSIONS. Treatment of this congenital anomaly is by light compressive massage, probing with silicone intubation of lachrymal system to assure prolonged permeability of the system, or with marsupialization of the nasal cyst. In some cases with intranasal extension of dacryocystocele, collaboration with an otolaryngologist may be necessary.     

Morning glory syndrome

Morning glory syndrome is a congenital optic disc anomaly in which much of die excavated colobomatous optic disc is filled with glial tissue. Ocular complications may include strabismus, reduced visual acuity and retinal detachment and it may have systemic associations as in Aicardi's syndrome. A patient widi monocular morning glory syndrome and reduced visual acuity is reported. The pattern reversal visually evoked potential was reduced and the latency increased in the affected eye.     

痉挛性脑瘫患儿72例眼部检查分析

目的:了解脑瘫患儿的眼部情况。方法:对72例脑瘫患儿进行眼部常规检查,对眼位、眼底、屈光状态、立体视等情况进行临床分析。结果:脑瘫患儿合并斜视、眼底异常、屈光不正、立体视异常等多种眼部疾病。结论:应重视脑瘫患儿斜视、屈光不正的早期治疗,提高患儿视觉质量。     

Patterned anomalies of the retinal pigment epithelium: Dystrophy or syndrome?

Under the heading of patterned dystrophies of the central pigment epithelium have been included, in some recent publications, the reticular and macroreticular dystrophies described respectively by Sjögren and Mesker et al. (both probably autosomal recessive hereditary conditions) as well as Deutman's butterfly-shaped dystrophy and fundus pulverulentus (both with autosomal dominant heredity), occurring in a few families. We have recently seen 6 patients with patterned anomalies of the central retinal pigment epithelium. The cause of this pigment anomaly was different in each case: Stargardt's macular degeneration associated with fundus flavimaculatus, drusen of Bruch's membrane, choroidal folds, adult (non-hereditary) vitelliform degeneration, bull's eye degeneration of the macula in chronic rheumatoid arthritis, and detachment of the pigment epithelium. In only one case, that of Stargardt's degeneration, was the condition hereditary (autosomal recessive) so that the term dystrophy (= hereditary degeneration) would be justified; all the other cases were non-hereditary conditions. The central retinal pigment epithelium can only react in a limited number of ways to pathological stimuli: one way is the patterned distribution of pigment. This argues against the concept of patterned dystrophy of the retinal pigment epithelium, especially as under this heading conditions with different hereditary characteristics are lumped together.     

Long-term clinical course and visual outcome associated with Peters' anomaly

PurposeTo investigate the long-term clinical course and visual outcomes of Peters' anomaly cases treated with various treatment modalities.Patients and MethodsAll patients with Peters' anomaly treated at Seoul National University Children's Hospital from 1985 to 2005 were reviewed retrospectively. Patients who were followed for more than 5 years after the first visit were enrolled for analysis of the visual outcome. Final visual outcomes were presented with respect to disease severity and treatment modalities. Disease severity was determined according to the corneal status and accompanied eye anomalies in mild or severe form. Treatment plans were classified into the following groups: (1) a medical treatment group; (2) a surgical treatment group; and (3) a no-treatment group.ResultsA total of 106 eyes in 76 patients were diagnosed as Peters' anomaly, and 90 eyes in 65 patients were analysed regarding the visual outcome. Overall, 60 eyes (67%) had severe disease, and 30 eyes (33%) had mild disease. Twenty-six eyes (29%) received medical treatment, 44 eyes (49%) received surgical treatment, and 20 eyes (22%) received no treatment. The mean final visual acuity was 1.415 logMAR, 2.344 logMAR, and 2.282 logMAR, respectively. The visual outcomes of the eyes with mild disease in each group were significantly better than the eyes with severe disease.ConclusionsThe long-term visual outcomes of Peters' anomaly differed according to the disease severity in each treatment group. Therefore, before making treatment plans for Peters' anomaly, it is important to investigate the corneal status and accompanying eye disease to determine disease severity.     

A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly

Peters plus syndrome is an autosomal recessive rare congenital disorder defined by corneal Peters anomaly with short disproportionate stature, development delay and dysmorphic facial features. In addition, cardiac, genito-urinary and/or central nervous system malformations can be present. Mutations in the beta-1,3-galactosyltransferase-like glycosyltransferase gene (B3GALTL) have been reported in patients with Peters plus syndrome prompting phenotype-genotype studies because of the variable clinical spectrum related to the syndrome. A 20 month old boy presenting with bilateral Peters anomaly in association with multiple developmental anomalies including cerebral malformations was found to carry a novel homozygous B3GALTL nonsense mutation [p.Tyr366X]. This is the first stop mutation described in association with this gene. The present report confirms the wide clinical spectrum of Peters plus syndrome, underlines the major clinical criteria of the syndrome and the major implication of B3GALTL gene in this condition. Ophthalmologic examination in multiple developmental anomalies remains an important clinical issue that may lead to specific gene screening. In Peters plus syndrome B3GALTL molecular test provides diagnosis confirmation and improves dramatically genetic counselling for the families.     

Peters anomaly in association with multiple midline anomalies and a familial chromosome 4 inversion

We describe the clinical presentation of a boy with Peters anomaly and a cataract of the left eye in association with multiple midline defects. His extraocular developmental abnormalities include cleft lip and palate, cardiac anomalies, an atretic cranial meningocele, as well as malformation of the left ear with chronic otitis media. Genetic analysis revealed a balanced paracentric inversion of chromosome 4, inv(4)(q12q13.3), also present in his asymptomatic father and siblings. His normal stature and cognitive development distinguish this case from the Peters Plus syndrome. The presence of a cranial meningocele represents a new association with Peters anomaly.     

Axenfeld's anomaly and related disorders

Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced. Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line. Although this particular condition is benign, the two clinical features manifested are observed in other ocular disorders with potentially sight-threatening sequelae. An asymptomatic patient with Axenfeld's anomaly presented to our office for routine eye care. A case report, discussion of the condition and differential diagnoses are presented regarding this ocular anomaly and related disorders.     

Superior oblique palsy with class III tendon anomaly

PURPOSE: To describe the clinical findings and surgical results of superior oblique palsy with class III tendon anomaly. DESIGN: Observational case series. METHODS: One hundred and forty-one cases of congenital and idiopathic superior oblique palsy were operated on by one surgeon (M.S.) between September 1, 1995 and August 31, 2007. The superior oblique tendons were explored in 26 cases. Among these, five cases were found to have the distal end of the tendon inserted into the Tenon capsule. Preoperative eye alignment, visual acuity, stereopsis measured with Titmus stereo acuity tests (Stereo Fly SO-001; Stereo Optical Co, Chicago, Illinois, USA), and magnetic resonance imaging findings were collected from the patients' records. Main outcome measures included preoperative eye position, surgical results, and stereoscopic acuity. Stereopsis and the amount of vertical deviation were compared in cases with class I, II, and IV tendon anomalies. RESULTS: A total of eight surgeries were performed on five patients with class III superior oblique tendon anomaly. Three muscles were operated on for each patient. The amount of vertical deviation was not significantly different from other types of tendon anomaly. Patients with class I to III tendon anomalies obtained good stereopsis after strabismus surgery, whereas cases with class IV anomaly achieved only limited stereopsis. The number of surgeries performed was significantly higher in cases with class IV anomaly. CONCLUSIONS: Without careful search of the Tenon capsule, the condition can be misdiagnosed as an absent tendon. Strengthening the superior oblique tendon in the Tenon capsule can improve the alignment significantly.     

The morning glory disc anomaly: Contractile movement,classification, and embryogenesis

A case of the morning glory disc anomaly is reported in which alternating contraction and dilation movements were observed and documented with fundus photographs. The movements are attributed to an anomalous communication between the subretinal and subarachnoid spaces that permits flux of fluid to occur between the two compartments, with consequent variation in the degree of retinal elevation within the excavated portion of the lesion. The clinical features of the morning glory disc anomaly, peripapillary staphyloma and optic disc coloboma are presented, and the relationship among these lesions is discussed. The author concludes that the morning glory disc anomaly is a clinical entity distinct from peripapillary staphyloma and optic disc coloboma. It is thought to be due to dysgenesis of the distal optic stalk leading to anomalous persistence of the extension of the cavity of the optic cup into the stalk.     

Coexistent orbital and cerebellar venous anornalies in linear sebaceous naevus syndrome

Background: Orbital venous anomalies can result in significant morbidity and have been reported in association with other venous anomalies, some with the potential for serious complication.
Methods/results: We present a case of an orbital venous anomaly coexistent with a large cerebellar venous angioma and a linear sebaceous naevus. Clinical features, asSociations, complications and management principles are presented.
Conclusion: Upon clinical recognition of an orbital venous anomaly, brain imaging and appropriate clinical assessment should be considered in light of the possibility of coexistence of potentially life-threatening lesions.