Geleophysic dysplasia associated with bilateral angle closure glaucoma
A 9-year-old girl presented with pain in both eyes. Her medical history revealed that she had geleophysic dysplasia and was being followed up in another center for her heart disease. Her parents were first-degree relatives. Her parents and 2 siblings had normal systemic and ocular findings. Her weight was 25 kg (<3rd percentile), and her height was 128 cm (<3rd percentile). At the end of the 3-year follow-up, her weight was 30 kg (<3rd percentile) and her height was 133 cm (<3rd percentile). She had long upper lip with thin vermillion. Her fingers and toes were short. Her skin was thick, and joint mobility was restricted. She had a typical tip-toe posture []. She was mentally normal. Her cardiologic examination revealed mitral valve anomaly and a low-degree mitral insufficiency. Upper and lower abdominal ultrasonography findings were normal, there was no hepatomegaly.\nOphthalmic examination revealed that best corrected Snellen visual acuities were 6/60 with a correction of −13.00 D, −4.00 D × 150° OD and 6/60 with a correction of −12.00 D, −3.00 D × 10° OS. Goldmann applanation IOP was 50 mmHg and 60 mmHg, respectively. Slit lamp examination disclosed bilateral corneal edema with shallow anterior chamber depth. (Grade I, von Herick classification) Gonioscopy showed bilateral angle closure. (Grade I of Schaffer classification) Cup/disc ratios were 3/10 in the right eye and 5/10 in the left eye. There was a relative macular lamellar hole appearance bilaterally. Optical coherence tomography evaluation revealed pseudohole formation.\nPachymetric corneal thickness measurements were 728μ OD and 740μOS. Ocular dimensions were measured with A-scan biometry [].\nShe was hospitalized, and after pediatric and cardiologic consultation, antiglaucoma therapy was initiated as: 75 ml of 20% mannitol intravenously, 250 mg acetazolamide ½ tablets twice daily, betaxolol and brimonidine eye drops twice daily. IOP decreased to 30 mmHg OD and 34 mmHg OS enabling gonioscopic examination, which revealed bilateral total angle closure with anterior synechiae. Bilateral YAG-laser peripheric iridotomies were performed. During a 10-day follow-up period with only topical antiglaucoma medication, IOP changed between 28 - 34 mmHg in the right eye and 34 - 40 mmHg in the left eye. When IOP increased up to 60 mmHg in the left eye in spite of topical therapy, trabeculectomy was planned and performed with 2 minute 0.2 mg/ml mitomycin C (MMC) application. There was no intraoperative complication. IOP was 22 - 24 mmHg during the postoperative 3 days, probably because of residual viscoelastic material left in the anterior chamber. Later, IOP decreased to 16 mmHg and remained stable. Having had good pressure control on the left eye for 5 weeks after trabeculectomy, trabeculectomy with MMC was performed on the right eye. Although there was no intraoperative complication, hyphema was seen on the first postoperative day, which resolved spontaneously. IOP were 16 mmHg OD and 14 mmHg OS without any antiglaucoma medication. 2 weeks after discharge from the hospital, the patient presented with pain in the right eye. IOP was 30 mmHg OD, and gonioscopy showed closure of the internal ostium by a coagulum. She was hospitalized and an exploration of the trabeculectomy area was made with removal of the coagulum and irrigation of the anterior chamber. IOP was stable at 16 mmHg postoperatively. The patient was followed with 3-month intervals for 3 years. IOP was 16 - 18 mmHg in both eyes without antiglaucoma medication. There was a partially avascular functional bleb formation in both eyes [].