A case of Axenfeld-Rieger syndrome with retinal detachment.

Axenfeld–Rieger syndrome (ARS) is a rare autosomal dominant disorder and encompasses anterior segment dysgenesis, along with dental, cardiac, craniofacial, and abdominal wall defects.[12] Although glaucoma[3] and retinal detachment (RD)[4] have been reported, little is known about the postoperative course after RD surgery in ARS patients. We present a photoessay of a patient with ARS having microspherophakia, subluxated lens, and RD, managed with vitrectomy and the subsequent chain of events.

A 15-year-old boy presented with complaint of decreased vision 20/400 in right eye (OD) for 1 week and poor vision (light perception) in left eye (OS) for 2 years. Examination revealed abnormal morphological [Fig. 1a–c] and ophthalmological features corroborative of ARS [Fig. 2a-c]. Fundus examination revealed RD in OD [Fig. 3a] with a cup–disk ratio of 0.7. OS showed similar anterior segment features along with an old RD [Fig. 3c]. Intraocular pressure (IOP) was 23 and 22 mmHg in OD and OS, respectively.

Figure 1

Facial morphology demonstrating (a) frontal bossing (yellow arrowheads), telecanthus (red arrowheads), flattening of the base of the nose (black asterisk), maxillary hypoplasia (blue arrowheads), thin upper lip (green arrowheads), and prominent lower lip (white arrowhead). (b) Face photo with mouth open showing a narrow philtrum (red arrowhead) and anodontia (black arrowhead). (c) Photograph showing redundant periumbilical skin

Figure 2

Ophthalmological features. (a) Diffuse slit-lamp photograph of the right eye showing corneal opacity (green arrowhead), patchy PAS (blue arrowhead), posterior embryotoxon (yellow arrowhead), along with microsperophakia of the crystalline lens (red arrowhead). (b) Magnified slit-lamp photograph of the right eye showing corneal opacity (green arrowhead) and microspherophakic crystalline lens (red arrow head). (c) Anterior segment Optical coherence tomography (OCT) showing adherence of the iris to the superior half of the cornea (white arrowhead). (d) Anterior segment OCT image of the patient showing irido-corneal adhesion in the superior quadrant (white arrowhead) PAS = peripheral anterior synechiae

Figure 3

Fundus photographs. (a) Wide field fundus image (Optos) of the right eye showing a fresh total retinal detachment. (b) Postoperative Optos image of the right eye showing attached retina. The 360° endolaser marks are visible. (c) Optos image of the left eye. An old retinal detachment is seen through the hazy media

The child underwent lensectomy owing to the subluxated lens and vitrectomy with silicone oil (S-Oil) implantation for RD. On the seventh postoperative day, Visual acuity (VA) OD was 20/100 with an attached retina and IOP was 41 mmHg. Despite using antiglaucoma medication, progressive increase of IOP was noted, along with staphylomatous protrusions at sclerotomy ports [Fig. 4a]. Early silicone oil removal along with continued antiglaucoma medication failed to control the IOP and staphylomatous protrusions [Fig. 4b and c]. As filtering surgery was not possible due to the scleral status, diode cyclophotocoagulation (CPC) was performed. One month post-CPC, the IOP had reduced to 24 mmHg. Over the next 6 months, VA remained stable at 20/63, retina was attached [Fig. 3b], and the IOP was 18 mmHg in OD and there was no further progression of the staphylomatous protrusions [Fig. 4d]. RD surgery was advised for the other eye; however, patient’s parents did not consent to further intervention.

Figure 4

Sequential diffuse slit-lamp photographs of the right eye. (a) At 4 weeks post-retinal detachment surgery, early staphylomatous protrusion of sclerotomy port (white arrowhead) is seen. (b) At 6 weeks post-retinal detachment surgery, progression of staphylomatous protrusion of the sclerotomy port (white arrowhead), along with an area of uveal show near limbus (green arrowhead) is seen. (c) Four weeks after silicone oil removal, further increase of staphylomatous protrusion of sclerotomy port (white arrowhead) is seen. (d) At 6 months after cyclophotocoagulation, there is no further progression of staphyloma

Discussion

The current case describes management of intractable glaucoma following RD surgery in a child with ARS and points out the torrid course that can be expected when such cases are operated upon.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.