Peters Plus Syndrome

Classification according to ICD-10
Q13.4	Other congenital malformations of the cornea
ICD-10 online (WHO version 2019)

The Peters-Plus-Syndrome is a very rare developmental disorder in the anterior segment of the eye, with only about 20 documented case studies since the delimitation description in 1984 . Alternatively, it is known as Krause-Kivlin syndrome.

root cause

The syndrome is based on mutations in the beta-1,3-galactosyl transferase- like gene (B3GALTL). The inheritance is autosomal - recessive ( OMIM 261540). As is compatible with autosomal recessive inheritance, the syndrome is known to occur sporadically as well as in siblings (partly from relatives).

Symptoms

In most cases, the syndrome is associated with the so-called Peters anomaly (Peters' defect formation), which is characterized by an underdevelopment ( hypoplasia ) of the anterior chamber in one or both eyes. It show up corneal opacities with thinning of the cornea, adhesions of iris (Iris) in the chamber angle and / or the posterior corneal surface (irido-lenticulo-corneal synechiae) and lens shift and / or opacities. One or both eyes may be smaller than usual ( microphthalmia ) and 5 out of 10 affected children have increased intraocular pressure ( glaucoma , glaucoma ) due to the malformations in the corner of the chamber. Eye tremors ( nystagmus ) may occur.

Other peculiarities that occur more frequently in children with the Peters-Plus-Syndrome include: a .: Short stature with comparatively short arms and legs, small, short hands ( brachydactyly ) and small feet, unusual mobility of joints, small head with unusually large fontanel after birth , round face, small ears, flat nasal bridge, narrow (upper) lip and pronounced Philtrum , cleft palate , cognitive and motor development delay, conductive hearing loss, possibly narrowing or occlusion of the ear canal, widening of the cerebral ventricles , bending of the little finger towards the ring finger ( clinodactyly ), diseases of the kidneys , heart defects and common respiratory diseases. An unusually large amount of amniotic fluid is often found during pregnancy ( polyhydramnios ). Sometimes there is a miscarriage .

diagnosis

In order to be able to estimate the diagnosis and the extent of the malformation , an examination is carried out under anesthesia depending on the age of the child . If the corneal opacity is very pronounced, an ultrasound examination will also be necessary.

As a differential diagnosis that come Cornelia de Lange Syndrome , which Rieger syndrome and the Weill-Marchesani syndrome in question.

therapy

Depending on the severity of the symptoms, there is a considerable visual impairment . The malformation cannot be cured causally, so that therapy can only be symptomatic, alleviating, but not curative (healing). Surgical measures may be necessary if the eye pressure is high and / or if the lens is cloudy. A cornea transplant is also conceivable.

literature

• Lesnik Oberstein et al .: Peters plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. At the. J. Hum. Genet. 79: 562-566, 2006. PMID 16909395 (full free text)

Individual evidence

1. ↑ Alphabetical directory for the ICD-10-WHO version 2019, volume 3. German Institute for Medical Documentation and Information (DIMDI), Cologne, 2019, p. 693

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