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].

• Oral Ulcers

  The mother had a herpetic oral ulcer, but no genital lesions. The infant did not show evidence of tearing, blepharospasm, photophobia, drainage, or ocular redness. Fig. 1: Bilateral corneal opacities at 2 days of age. [eyerounds.org]

• 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]

• Ulcer

  Postoperative corneal ulcers/nonhealing epithelial defects (P = 0.03), and additional noncorneal surgical procedures at the time of transplantation (P = 0.05) were associated with graft failure. [ncbi.nlm.nih.gov]

  The mother had a herpetic oral ulcer, but no genital lesions. The infant did not show evidence of tearing, blepharospasm, photophobia, drainage, or ocular redness. Fig. 1: Bilateral corneal opacities at 2 days of age. [eyerounds.org]

  […] lamellae in the ulcer bed.[16] The opacification often involves the central cornea; however, it can also affect the entire cornea. [eyewiki.org]

• 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]

• Forgetful

  Lastly, we must not forget that treatment for these children whose visual system is still developing must be provided as early as possible to get the best possible visual prognosis and minimise the risk of amblyopia (lazy eye). [barraquer.com]

• 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]

• Genital Lesions

  The mother had a herpetic oral ulcer, but no genital lesions. The infant did not show evidence of tearing, blepharospasm, photophobia, drainage, or ocular redness. Fig. 1: Bilateral corneal opacities at 2 days of age. [eyerounds.org]

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 modalities The eyes with Peters’ anomaly were classified into three groups according to the treatment protocol: (1) the medical treatment group, (2) the surgical treatment group, and (3) the no-treatment group. [nature.com]

Treatment Patients require treatment with a multidisciplinary approach, including a cornea specialist and a paediatric ophthalmologist. [barraquer.com]

[…] intervention, given that precocious treatments are more likely to result in a good development of the vision. [pesquisa.bvsalud.org]

The surgical treatments for Peters anomaly can be helpful, but some people require multiple procedures over time, and there is no guarantee that any treatment will alleviate the most serious effects of Peters anomaly. [webmd.com]

Patients with Type I who only required medical follow-ups had the most favourable prognosis. Patients who underwent Peripheral Iridectomy followed and patients in which PKP was performed had an inferior prognosis. [dialnet.unirioja.es]

Patients with glaucoma and cataract had a worse visual prognosis. [emedicine.medscape.com]

Children with glaucoma have a poorer visual prognosis. [ncbi.nlm.nih.gov]

If the patient also has cataracts, they can also be removed in the same operation, the prognosis being somewhat worse. [barraquer.com]

Visual prognosis is dependent on the disease severity. [eyerounds.org]

The etiology of Peter's anomaly remains uncertain, but the most likely causes are related to genetic, infectious, traumatic and toxic factors. [pesquisa.bvsalud.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]

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]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.de]

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]

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]

Rare diseases leading to childhood glaucoma: Epidemiology, pathophysiogenesis, and management. Biomed Res Int 2015;2015:781294. 8. Yang LL, Lambert SR, Drews-Botsch C, et al. [reviewofophthalmology.com]

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]

[…] specific 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]

Etiology and Pathophysiology Most cases of Peters anomaly are sporadic without an identified genetic cause. It can occur as an isolated finding or associated with systemic disease as in Peters-plus syndrome. [eyerounds.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]

These procedures all work to control the pressure in the eye and prevent further damage. [webmd.com]

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]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.de]

The use of OCT prevented unnecessary cataract surgeries in five patients. [bjo.bmj.com]

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.