Two Cases of Rubinstein-Taybi Syndrome With Retinal Detachment

We report two cases of Rubinstein-Taybi syndrome (RTS) with retinal detachment. Case 1 is a nine-year-old girl with RTS. She developed a macula-involving tractional retinal detachment (TRD) in the superior temporal quadrant of her right eye. Lens aspiration, intraocular lens implantation, vitrectomy with membrane peeling, and encircling were performed. However, retinal reattachment was not achieved. Two months after the surgery, neovascular glaucoma (NVG) in the right eye developed and consequently became phthisis bulbi two years after the surgery. At the age of 13 years, she underwent cataract surgery and vitrectomy for mature cataracts and worsening TRD in the left eye. Eleven months after surgery, NVG developed in the left eye, which was refractory to multiple glaucoma surgeries. In addition, the retina was re-detached and could not be reattached due to severe proliferative vitreoretinopathy. Case 2 is a 15-year-old boy with RTS, which was diagnosed immediately after birth. At the age of 10 years, total retinal detachment with a horseshoe tear occurred in the inferior temporal quadrant in the left eye, which underwent lensectomy, vitrectomy, and silicone oil tamponade. To achieve retinal reattachment, three vitrectomies were required. However, secondary angle-closure glaucoma developed one year after the last surgery. The intraocular pressure was poorly controlled even after trabeculotomy and goniosynechialysis, and his vision became no light perception three years postoperatively. Retinal detachment in patients with RTS may be challenging to treat, and multiple surgeries are required. Special caution is exercised regarding postoperative refractory glaucoma.