Congenital heart malformations were present in 2 cases and renal anomalies were noted in one case. During the evolution, 3 patients presents a failure to thrive and developmental delay. One patient was died because of pneumonia. [adc.bmj.com]

Case presentation In this presentation, we report a case of PPS with homozygous pathogenic variant in B3GLCT who presented with classic anterior segment findings, systemic abnormalities, as well as atypical bilateral chorioretinal atrophy. [bmcophthalmol.biomedcentral.com]

Jump to top Clinical phenotype Presenting features Peters anomaly is typified by congenital central corneal opacity with surrounding clear cornea, iridocorneal and/or keratolenticular adhesions. [gene.vision]

There may be preauricular pits present and the neck is often broad. The ears may be prominent. Congenital heart defects are present in a third of patients and a few have genitourinary anomalies. [disorders.eyes.arizona.edu]

[…] if the genotype is not present) See 2.1. 2.3 Clinical sensitivity (proportion of positive tests if the disease is present) The clinical sensitivity can be dependent on variable factors such as age or family history. [nature.com]

• Developmental Delay

  Other major symptoms are a disproportionate short stature, developmental delay, characteristic craniofacial features, and cleft lip and/or palate. [adc.bmj.com]

  cleft lip, cleft palate, developmental delay and short limbs with broad distal extremities. [gene.vision]

  Developmental delay is observed in about 80% of children; intellectual disability can range from mild to severe. Diagnosis/testing. [ncbi.nlm.nih.gov]

  Systemic Features: Peters-plus syndrome consists of Peters anomaly plus various degrees of developmental delays and intellectual deficits, short digits and short stature, and cleft lip and palate. [disorders.eyes.arizona.edu]

  Extraocular findings included short extremities and brachydactyly, cleft palate, characteristic facial features, developmental delay, and pulmonary stenosis (Table 1). [bmcophthalmol.biomedcentral.com]

• Brachydactyly

  in addition to several other less frequently observed phenotypes.[6] A study of 55 patients with Peters-plus-related phenotypes, but lacking the most common combination (Peters anomaly, short stature, and brachydactyly), revealed none of those cases [en.wikipedia.org]

  Individuals with Peters plus syndrome also have shortened upper limbs (rhizomelia) and shortened fingers and toes (brachydactyly). [encyclopedia.pub]

  Short stature, brachydactyly, and Peters’ anomaly (Peters’-plus syndrome): confirmation of autosomal recessive inheritance. Journal of medical genetics 28: 277–279. [preventiongenetics.com]

  Extraocular findings included short extremities and brachydactyly, cleft palate, characteristic facial features, developmental delay, and pulmonary stenosis (Table 1). [bmcophthalmol.biomedcentral.com]

• Short Extremities

  Extraocular findings included short extremities and brachydactyly, cleft palate, characteristic facial features, developmental delay, and pulmonary stenosis (Table 1). [bmcophthalmol.biomedcentral.com]

Treatment Treatment Options: Treatment is directed at sight preservation by correcting the major ocular defects such as glaucoma and iridocorneal adhesions. Corneal transplants and cataract removal are sometimes required. [disorders.eyes.arizona.edu]

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

Treatment is focused on managing the symptoms, and may involve surgery to correct the eyes.[1031][15857][15858][15859] For more information, visit GARD. [rarediseases.org]

Clinicopathologic Features and Treatment Characteristics of Congenital Corneal Opacity Infants and Children Aged 3 Years or Less: A Retrospective Single Institution Analysis. [gene.vision]

Treatment for spectacle correction and amblyopia treatment should be initiated as soon as possible. [eyewiki.aao.org]

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

Another study found higher rates of graft survival, while concluding that those with preexisting glaucoma have a poorer visual prognosis.[21] Overall visual prognosis is poor after corneal graft with one study finding that less than one-third of eyes [eyewiki.aao.org]

Long-term visual prognosis in children after corneal transplant surgery for Peters anomaly type I. Am J Ophthalmol. 2007;144:104–8. [ncbi.nlm.nih.gov]

Article CAS Google Scholar Zaidman GW, Flanagan JK, Furey CC : Long-term visual prognosis in children after corneal transplant surgery for Peters anomaly type I. Am J Ophthalmol 2007; 144: 104–108. [nature.com]

Etiology Peters anomaly falls within the spectrum of anterior segment dysgenesis, which includes other diseases such as Axenfeld-Rieger syndrome. [eyewiki.aao.org]

The American Academy of Ophthalmology's Pathology Atlas contains a virtual microscopy image of Peters Anomaly.[17] Pathophysiology The critical embryological event that is associated with Peters is the formation of the anterior chamber. [eyewiki.aao.org]

Surgical follow up As with any corneal graft, frequent follow-up after PK is required to help prevent graft failure. [eyewiki.aao.org]

Treatment of manifestations: Consideration of corneal transplantation (penetrating keratoplasty) for severe bilateral corneal opacification before age three to six months to prevent amblyopia; consideration of simple separation of iridocorneal adhesions [ncbi.nlm.nih.gov]