Delivery was done via elective caesarean section.

Weight at birth was 3,530 grams (7 lbs 12.5 oz)

Apgar Score at 1' = 9; Apgar at 5' = 10.

Physiological neonatal course.

 

Approximately 1 month after birth, the parents noticed that The Patient presented an asymmetry in the diameter of her pupils. She was examined by the family paediatrician, and was sent to the ER at Hospital, where the diagnosis of anisocoria was confirmed. In particular, the physical examination found the following: "anisocoria with OD < OS, and suspected OD microphthalmus with possible cleavage anomalies in the anterior chamber".

Therefore an appointment was made for the following morning for an operative microscopic assessment in the ophthalmologic clinic of the same hospital.

The corresponding report suggested:

"OD SA -> cornea of reduced size, anterior chamber nearly absent, anomalous iris markings, miotic pupil.

OD SA -> appearance normal.

Full examination under anesthesia suggested in one month, including measurement of corneal diameters, gonioscopy, biometrics, phonometry, and ocular fundus. (--- 8 hours under anesthesia)."

As planned, the assessment was conducted, and the report stated:

"OD SA posterior embryotoxon, widespread rarefaction of the iris markings with bridges of pigmented connective tissue that project onto the cornea and stick together peripherally. Chamber present and of good depth, pupil average in pharmacological mydriasis, lens transparent.

OS SA embryotoxon in the lower sector with iris subatrophy, anterior chamber present and of normal depth, pupil maximum in pharmacological mydriasis, lens transparent.

OO corneal diameters:        OD horizontal 9-9.5 mm, vertical 8.5-9 mm OS horizontal 10.5 mm, vertical 10 mm

OOT: 7 mmHg (Perkins)

OOFO: papilla pink with clearly defined edges (OD slightly reduced in size compared to OS), vascular tree within limits.

OD gonioscopy: iris-corneal angle open with abundant pigmented fibrous lobes 360°.

OS gonioscopy: iris-corneal angle open with presence of fibrous lobes only in lower sector".

An additional test of this type has already been scheduled.

 

The Patient was born on via elective caesarian section. According to her birth weight and Apgar scores, she was probably a full term baby. However, no data is provided regarding the course of her mother's pregnancy, nor why was it decided to deliver in a caesarian section.

Some data are missing: is the cornea clear? What is the cycloplegic refraction? What is the axial length of the eyes?

However, posterior embryotoxon, iris strands adherent to Schwalbe’s line, iris hypoplasia, focal iris atrophy with hole formation, corectopia, and ectropion uveae are typical findings in Axenfeld-Rieger syndrome (A-R syndrome). Mgalocornea or microcornea can also occur. Historically, this condition was incorporated under the broader heading of anterior chamber cleavage syndromes, and included Axenfeld’s anomaly, Axenfeld’s syndrome, Rieger’s anomaly, and Rieger’s syndrome

The child should be followed regularly by a pediatric ophthalmologist. The syndrome generally requires little therapeutic intervention. Cycloplegic refraction should be done, glasses should be given if necessary and preventive amblyopia treatment should be considered. The greatest concern in patients with A-R syndrome is the development of secondary glaucoma. In most cases, those who develop glaucoma do so in childhood or early adulthood. Still, patients must be monitored throughout life for elevations in intraocular pressure and optic nerve head changes. Glaucoma may develop in approximately 50 percent of patients with A-R syndrome. A-R syndrome is always bilateral but may be markedly asymmetric.

Developmental defects of the teeth and facial bones, pituitary anomalies, cardiac disease, oculocutaneous albinism, and redundant periumbilical skin may be associated. The condition appears to be hereditary, displaying an autosomal dominant inheritance pattern with variable expression.