Peters plus syndrome

Autosomal recessive congenital disorder of glycosylation that produces ocular alterations, short stature, cleft lip, characteristic facial features and intellectual disability.

Peters plus syndrome is a syndromic defect of ocular development of genetic origin. Its phenotype is variable and may include ocular anomalies, short limbs, characteristic facial features, cleft palate, cleft lip, etc. It is of neonatal onset. It is inherited in an autosomal recessive pattern.

It is a rare disease with an estimated prevalence of less than 1 case per 1,000,000 population.

Symptoms

Dysgenesis of the anterior segment of the ocular cup (known as Peters anomaly) occurs due to alterations in ocular development that may be accompanied by iridocorneal adhesions, cataracts and glaucoma. Usually both eyes are affected, but not always. Growth deficiency and limb shortening, brachydactyly, characteristic facial features, cleft lip/palate and variable developmental delay occur.

Developmental delay is seen in approximately 80% of affected children; intellectual disability can range from mild to severe. Other associated anomalies described in some patients include congenital heart defects, genitourinary anomalies and congenital hypothyroidism.

Disease management

Total keratoplasty (corneal transplantation) should be considered due to corneal involvement before 3-6 months of age and separation of mild iridocorneal adhesions. Surgical intervention for glaucoma as necessary.

Periodic medical check-ups to assess development and follow-up by a pediatric ophthalmologist. It is recommended to avoid corticosteroid drugs in patients with this syndrome as they increase the risk of glaucoma.

Genes analyzed

B3GALTL

Bibliography

Lesnik Oberstein SAJ, Ruivenkamp CAL, Hennekam RC. Peters Plus Syndrome. 2007 Oct 8 [updated 2017 Aug 24]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023.

Totoń-Żurańska J, Kapusta P, Rybak-Krzyszkowska M, et al. Contribution of a Novel B3GLCT Variant to Peters Plus Syndrome Discovered by a Combination of Next-Generation Sequencing and Automated Text Mining. Int J Mol Sci. 2019 Nov 28;20(23):6006.

Zhang A, Venkat A, Taujale R, et al. Peters plus syndrome mutations affect the function and stability of human β1,3-glucosyltransferase. J Biol Chem. 2021 Jul;297(1):100843.