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 on ----, she was sent to the ER at --- Hospital in ---, 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 on ---, 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 on ---.

Questions:

1) Can you confirm the diagnosis?

2) Which are the leading centers, for treating this ophthalmologic pathology?

3) What treatment do you suggest? In particular, is surgery required?

4) What is the prognosis?

 

Medical Report:

Re:

Dear Medical Opinion,

Thank you for the referral and the copy of the medical records for this patient.I had the opportunity to review the patient’s medical records:

This is a second opinion based on the attached clinical information. I have not performed a clinical examination of the patient. This second opinion has been requested on behalf of the patient by medical-opinion.

 

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.

The Patient was seen in the Ophthalmologic clinic at --- Hospital in --- on ---, and "cornea of reduced size, anterior chamber nearly absent, anomalous iris marking, miotic pupil" was found. The left eye appeared to be normal.

Examination under anesthesia was performed on ---. The examination revealed posterior embryotoxon in both eyes, and bilateral "fibrous lobes" in the anterior chamber angle seen by gonioscopy. The rest of the examination of the anterior segment was within normal limits for the left eye. However there were other anomalies in the right eye: it had a small corneal diameter (9-9.5 X 8.5-9), the pupil did not dilate as well as did the pupil in the left eye (presumably to the same eye drops), there were "widespread rarefaction of the iris markings with bridges of pigmented connective tissue that project onto the cornea and stick together peripherally."

The intraocular pressure and the posterior segment were described as normal in both eyes.

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.

A careful general pediatric evaluation should be taken, dental, cardiologic and endocrinologic consultation should be considered.

I would be happy to see this patient in my practice if he wishes to travel. If I can be of any further help to you, please contact me, through Medical-Opinion.

Sincerely yours,

Dr---