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].

• Hypoxemia

  The severe lenticular disturbance, microphthalmos, and fetal growth retardation in this case reflected early anemia and the resultant hypoxemia. [ncbi.nlm.nih.gov]

• 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]

• Crying

  It presents with a distinctive catlike high-pitched cry, psychomotor delays, microcephaly, craniofacial abnormalities, and, in many cases, ocular findings. [ncbi.nlm.nih.gov]

• 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]

• 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]

• 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]

• Macula

  The left eye showed a central opacity and a superficial pannus; the optic disk and macula could not be visualized. He underwent bilateral corneal transplantation. Histologic examination of the corneal buttons confirmed the diagnosis. [ncbi.nlm.nih.gov]

  Fundus examination of the right eye showed a large inferior chorioretinal coloboma involving the optic disc and macula ( Fig. 3 ). Staphyloma was observed in the right eye by B-scan ultrasonography ( Fig. 4A ). [synapse.koreamed.org]

  OS: Healthy-appearing optic nerve with cup-to-disc ratio 0.15; normal macula, vessels, and periphery. [webeye.ophth.uiowa.edu]

• 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]

• 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]

• 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]

• Lethargy

  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]

• 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]

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].

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.