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Peters Anomaly

Peters anomaly is characterized by dysgenesis of the anterior segment of the eye. Several genetic mutations lead to a number of structural deficits, most prominent being corneal opacities and the formation of synechiae between various structures in the eye. In addition to significant visual impairment (that is frequently bilateral), Peters anomaly can present with systemic manifestations such as craniofacial, skeletal, cardiovascular, renal, genital, and central nervous system abnormalities. The diagnosis rests on clinical criteria and genetic studies.


Presentation

Peters anomaly belongs to a group of diseases known for causing anterior segment dysgenesis (ASD) [1] [2] [3] [4] [5]. ASD is a term describing rare embryological disorders that arise between the 4th and 7th week of embryonal maturation and cause severe anatomical malformations of the iris, the cornea, and the retina [1] [3] [5]. Specifically, the signs and symptoms of Peters anomaly stem from iridocorneal and lenticular-corneal synechiae, corneal opacities, and disruptions of the posterior corneal layers, all occurring due to two events: improper separation of the surface ectoderm and the lens; and abnormal connections between the iris or the lens to the cornea when the anterior chamber is formed [1] [2] [3]. The typical presentation is distinguished by an early onset (infancy) of deficits in the visual field and reduced acuity, either in one or both eyes [1] [6]. Because the trabecular meshwork is not properly developed, glaucoma is a frequent feature in these patients [1] [2] [6] [5] [7]. In addition to ocular findings, numerous systemic manifestations have been documented in the literature [1] [2] [3] [4]. Micrognathia, low-set ears, a cleft palate, underdeveloped teeth and upper lips are notable malformations of the face, whereas skeletal (clinodactyly, brachydactyly, and a rhizomelic stature), cardiovascular (most importantly congenital heart disease), and neuropsychiatric (mental delay, sensory nerve damage, agenesis of the corpus callosum, etc.) are noticed [1] [2] [4] [5]. The term Peters plus syndrome is sometimes used to describe patients with Peters anomaly who suffer from systemic symptoms [2] [4]. Amblyopia is a potential complication of Peters anomaly [5].

Short Disproportionate Stature
  • disproportionate stature, development delay and dysmorphic facial features.[ncbi.nlm.nih.gov]
  • Peters’ plus syndrome includes short disproportionate stature, developmental delay, dysmorphic facial features, cardiac, genito-urinary, and central nervous system malformation. These systemic findings are seen in up to 60% of patients.[eyewiki.aao.org]
Coarctation of the Aorta
  • It presents with a large facial hemangioma associated with anomalies of the posterior fossa of the brain, arterial anomalies, cardiac anomalies, coarctation of the aorta, and eye anomalies. Ocular abnormalities are rare.[ncbi.nlm.nih.gov]
High-Pitched Cry
  • It presents with a distinctive catlike high-pitched cry, psychomotor delays, microcephaly, craniofacial abnormalities, and, in many cases, ocular findings.[ncbi.nlm.nih.gov]
Hypoxemia
  • The severe lenticular disturbance, microphthalmos, and fetal growth retardation in this case reflected early anemia and the resultant hypoxemia.[ncbi.nlm.nih.gov]
Aspiration
  • Cataract surgery (in-the-bag irrigation and aspiration) with or without intraocular lens implantation and with or without broad iridectomy was performed.[ncbi.nlm.nih.gov]
  • Surgeon is able to remove anterior capsular flap away from corneolenticular adhesions then perform aspiration of cataract with in-the-bag IOL placement.[ascrs.org]
Persistent Vomiting
  • A neonate, born to first-degree healthy cousins, presented with persistent vomiting, failure to thrive, lethargy, and jaundice. Corneal opacity was noticed in the left eye.[ncbi.nlm.nih.gov]
High Arched Palate
  • We report a 9-month-old boy with major features of Neuhauser syndrome, including megalocornea, mental motor retardation, hypotonia, dysmorphic findings (high-arched palate, broad nasal bridge, epicanthus), who also had additional findings such as Peters[ncbi.nlm.nih.gov]
Jaundice
  • A neonate, born to first-degree healthy cousins, presented with persistent vomiting, failure to thrive, lethargy, and jaundice. Corneal opacity was noticed in the left eye.[ncbi.nlm.nih.gov]
Normal Stature
  • 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.[ncbi.nlm.nih.gov]
Dry Skin
  • Dysmorphic features included low-set ears, hypoplastic mandible, delicate, dry skin, narrow arched palate, wide spaced nipples and hypotonia. He also had a cloudy right cornea. Chromosomal analysis disclosed a ring 21 defect.[ncbi.nlm.nih.gov]
Widely Spaced Nipples
  • Dysmorphic features included low-set ears, hypoplastic mandible, delicate, dry skin, narrow arched palate, wide spaced nipples and hypotonia. He also had a cloudy right cornea. Chromosomal analysis disclosed a ring 21 defect.[ncbi.nlm.nih.gov]
Broad Nasal Bridge
  • We report a 9-month-old boy with major features of Neuhauser syndrome, including megalocornea, mental motor retardation, hypotonia, dysmorphic findings (high-arched palate, broad nasal bridge, epicanthus), who also had additional findings such as Peters[ncbi.nlm.nih.gov]
Cerebral Calcification
  • Both babies had distinctive facial dysmorphism and severe central nervous system abnormalities including partial or complete absence of the corpus callosum and cerebral calcifications.[ncbi.nlm.nih.gov]
Communicating Hydrocephalus
  • Communicating hydrocephalus (or brain atrophy) and polyhydramnios were documented in two patients, potentially allowing prenatal diagnosis in secondary familial cases.[ncbi.nlm.nih.gov]

Workup

Studies have shown that the majority of corneal transplants in infants are indicated for the correction of Peters anomaly [8], thus the condition must be included in the differential diagnosis of corneal opacities causing visual symptoms in this age group. To make the initial diagnosis, a properly conducted physical examination is the crucial step. On the basis of clinical findings during the examination and advanced ocular investigation (slit-lamp evaluation, etc.), two types of Peters anomaly are described: type 1, distinguished by the presence of bilateral avascular corneal opacities distributed centrally or paracentrally; and type 2, where corneal opacities are much denser and accompanied by dislocation of the lens and frequent absence of the iris [5] [7]. A definite diagnosis of an ASD can be made through genetic studies, which are often not performed in patients with Peters anomaly [1]. An array of genetic mutations have been identified in this disorder, thus a molecular genetic analysis of the patient (but also of the parents and close family members, given the autosomal recessive pattern of inheritance) is recommended whenever possible [1] [2] [4].

Treatment

  • Treatment plans were classified into the following groups: (1) a medical treatment group; (2) a surgical treatment group; and (3) a no-treatment group.[ncbi.nlm.nih.gov]
  • In cases of unilateral PA without IOP elevation and no enlargement of the corneal diameter, strict amblyopia treatment is vital to obtain a favorable visual prognosis.[ncbi.nlm.nih.gov]
  • All patients received a topical treatment of cyclosporine and corticosteroids. Suture ablation was performed between the first and second postoperative month and all patients had spectacle correction and amblyopia treatment.[ncbi.nlm.nih.gov]

Prognosis

  • Children with glaucoma have a poorer visual prognosis.[ncbi.nlm.nih.gov]
  • As such, there is a need to explore alternative surgical interventions that may possibly improve the postoperative visual prognosis in these patients.[ncbi.nlm.nih.gov]
  • Anterior and posterior segment ultrasound is essential to fix the correct diagnosis and prognosis.[ncbi.nlm.nih.gov]
  • In cases of unilateral PA without IOP elevation and no enlargement of the corneal diameter, strict amblyopia treatment is vital to obtain a favorable visual prognosis.[ncbi.nlm.nih.gov]
  • The data suggest that complicated cases requiring additional surgical procedures have a worse prognosis.[ncbi.nlm.nih.gov]

Etiology

  • Of them, at least 128 are performed in infants, for various etiologies. A survey by the members of the PKA on 1995 showed that 65% of all grafts in infants are performed for PA.[ncbi.nlm.nih.gov]
  • This is the first study to use whole exome sequencing to discern the genetic etiology of a large cohort of patients with syndromic or isolated Peters anomaly.[ncbi.nlm.nih.gov]
  • The etiology of Peter's anomaly remains uncertain, but the most likely causes are related to genetic, infectious, traumatic and toxic factors.[scielo.br]
  • Incidence/Prevalence: rare Etiology: Most cases are sporadic, yet both autosomal recessive and dominant modes of inheritance are reported. Peter’s anomaly is considered an alteration of the migration of waves of neural crest.[missionforvisionusa.org]
  • Being a rare disorder, its exact etiology is yet to be elucidated. However, several previous observations did clearly point to a genetic etiology [ 4 ].[karger.com]

Epidemiology

  • The clinical features, epidemiology, genetics, complications, and treatments of Peters anomaly are presented. Cornea specialists who care for pediatric patients should be aware of the common and uncommon associations with Peters anomaly.[ncbi.nlm.nih.gov]
  • The clinical features, epidemiology, genetics , complications, and treatments of Peters anomaly are presented. Cornea specialists who care for pediatric patients should be aware of the common and uncommon associations with Peters anomaly .[journals.lww.com]
  • Peters plus syndrome is characterized by cleft lip or palate, short stature, facial dysmorphism, genitourinary abnormalities, syndactyly, brachycephaly, and cardiac, neural, and hearing abnormalities. [6, 13] Epidemiology Freqency United States The incidence[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • Thus, PA and PCG may share a common molecular pathophysiology. Indeed, PA and PCG may share the same spectrum of anterior segment dysgenesis.[ncbi.nlm.nih.gov]
  • […] type of mesenchymal anterior segment dysgenesis, in which there is central corneal leukoma, adhesions of the iris and cornea and abnormalities of the posterior corneal stroma, Descemet's membrane, corneal endothelium, lens and anterior chamber. [1] Pathophysiology[en.wikipedia.org]
  • […] anomaly may also be associated with systematic abnormalities. [6, 7] Genetic mutations within FOXC1, PAX6, PITX2, and CYP1B1 can all result in abnormal neural crest cell migration to the posterior cornea, which can lead to Peters anomaly. [2, 7, 8, 9] Pathophysiology[emedicine.medscape.com]
  • Pathophysiology Normal corneal development depends on neural crest migration which occurs in 3 distinctive waves during embryogenesis to produce the structures of the anterior chamber. This typically occurs during the 7th week of gestation.[eyewiki.aao.org]

Prevention

  • Achieving a satisfactory visual outcome and preventing further visual loss is impeded by the presence of congenital anterior and posterior segment anomalies, structural defects of the CNS, cognitive dysfunction and amblyopia, as well as postoperative[ncbi.nlm.nih.gov]
  • It is suggested that children with Type I Peters anomaly be considered for penetrating keratoplasty within the first year of life to prevent amblyopia [3].[pfond.cmmt.ubc.ca]
  • Primary prevention Peters’ anomaly is an in utero abnormality of multiple gene loci that cause anterior segment dysgenesis. No primary prevention has been described for this disorder.[eyewiki.aao.org]

References

Article

  1. Weh E, Reis LM, Happ HC, et al. Whole exome sequence analysis of Peters anomaly. Hum Genet. 2014;133(12):1497-1511.
  2. Reis LM, Semina EV. Genetics of anterior segment dysgenesis disorders. Curr Opin Ophthalmol. 2011;22:314–324.
  3. Matsubara A, Ozeki H, Matsunaga N, et al. Histopathological examination of two cases of anterior staphyloma associated with Peters’ anomaly and persistent hyperplastic primary vitreous. Br J Ophthalmol. 2001;85:1421–1425.
  4. Weh E, Reis LM, Tyler RC, et al. Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes. Clin Genet. 2014;86:142–148.
  5. Sault RW, Sheridan J. Peters’ Anomaly. Ophthalmol Eye Dis. 2013;5:1-3.
  6. Yoshikawa H, Sotozono C, Ikeda Y, Mori K, Ueno M, Kinoshita S. Long-Term Clinical Course in Eyes With Peters Anomaly. Cornea. 2017;36(4):448-451.
  7. Shirai K, Okada Y, Nakamura Y, Saika S. Histopathological features in a case of Peters’ anomaly with acquired corneal staphyloma. Case Rep Ophthalmol Med. 2011;2011:418048.
  8. Kurilec JM, Zaidman GW. Incidence of Peters anomaly and congenital corneal opacities interfering with vision in the United States. Cornea. 2014;33(8):848-850.

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Last updated: 2019-07-11 22:01