A 58-year-old Han Chinese male patient was referred to Eye Center of the Second Affiliated Hospital of Zhejiang University Medical College on February 21st, 2019. His bilateral vision was progressively decreased for more than 5 years. He received bilateral trabeculectomy 30 years ago and did not receive any anti-glaucoma medications from then on. The patient was first admitted to a local hospital 30 years ago due to “blurred vision”. He was found to have small cornea, multiple pupil disease, iris atrophy and high intraocular pressure. According to clinical ophthalmic features, he was diagnosed as Rieger syndrome and received anti-glaucoma surgery. Half a year ago, he was recommended to Dr. Xu for “gradual aggravation of blurred vision” and diagnosed as ARS based on the medical history, ocular and systemic clinical features. His parents died when he was young. His sister had glaucoma on both eyes and received surgical treatment. His brother was blind because of boxing injury when he was young. His daughter and son were normal without ARS phenotype. The present study was adhered to the tenets of the Declaration of Helsinki. An informed consent was obtained from the patient. A comprehensive ophthalmic examination was performed. The best-corrected visual acuity (BCVA) was 2.0 (logMAR) bilaterally, while the intraocular pressure (IOP) was 17.0 mmHg in the right eye and 16.5 mmHg in the left eye (Goldmann Applanation Tonometry, Suzhou City, Jiangsu Province, China). The slit-lamp microscopy of anterior segment showed obvious nuclear cataract (C2N3P1 with LOCSII), iris lesions, and the abnormal cornea of both eyes which involved in pellucid marginal degeneration (PMD) and morphological irregularity. Gonioscopy suggested characteristic corneal posterior embryotoxon. Anterior segment imaging examination (Visante OCT, Zeiss, Germany) showed adhesion of the cornea to the iris in both eyes. The iris changes included iris atrophy, loose arrangement and the nasal-displaced pupil with hiatus formation. The value of flat corneal curvature (K) was 36.8 D in the right eye and 38.2 D in the left eye through anterior segment analysis diagnostic system (Pentacam, Oculus, Germany). An ultrasonic measurement (Quantel, Sinescan, France) showed that the axial length (AXL) was 28.18 mm in the right eye and 29.26 mm in the left eye. The central visual field examination revealed a defect in the visual field of both eyes. The patient had dental abnormalities of hypodontia in the upper and lower teeth in permanent dentition. In addition, the patient presented with redundant periumbilical skin. About 2 mL of peripheral blood samples was collected from this patient into Vacutainer tubes (Becton-Dickinson, Franklin Lakes, NJ) containing EDTA and sent to BGI Genomics (BGI-Shenzhen, Shenzhen 518,083, China) for clinical exome detection. Through genetic testing, a known pathogenic mutation NM_153427.2:c.272G > A was detected on the PITX2 gene, and an unknown mutation NM_001453.2: c.1063C > T was detected on FOXC1 gene. The patient received a microincision-phacoemulsification (Millenium, Bausch & Lomb) and intraocular lens implantation for the cataract on his left eye in Eye Center, the Second Affiliated Hospital of Zhejiang University on March 7th, 2019. The operation was performed under topical anesthesia. A self-sealing temporal limbal micro-incision (2.0 mm), capsulorhexis of 5.0 mm in diameter, and the phacoemulsification using the stop-and-chop technique, as well as an implantation of a hydrophobic aspheric posterior-chamber intraocular lens with + 14.0 Diopter (Akreos AO, Bausch&Lomb MI60,USA), were performed. Data regarding the microscope-light exposure time (27 min), the average phacoemulsification time (APT) (1.58 min) and the intraoperative measurements of phaco energy (MPE) (10%) were recorded at the end of the surgery. Postoperative treatment included levofloxacin eye drops (Cravit, Santan Inc. Japan) q.i.d., 1% prednisolone acetate eye drops (Predacetate, Allergan, India) q.i.d., and diclofenac sodium eye drops (Sinqi Inc., China) q.i.d for 1 week. At 1 day after surgery, BCVA became 1.4 (logMAR), while IOP was 18.0 mmHg. At 3 days after surgery, cornea edema was found, the IOP was increased to 50.0 mmHg, and further treatment was given, including intravenous infusion of 20% mannitol (250 mL) q.d for 3 days, oral acetazolamide tablets, eye drops with Brinzolamide (Azopt, Alcon Laboratories, Inc.) and carteolol hydrochloride (Otsuka Pharmaceutical Co., China) twice a day. At 1 week after surgery, the IOP was decreased to 19.5 mmHg. Brinzolamide and carteolol hydrochloride were continued, pranoprofen eye drops (Pranopulin, Senju Inc., Japan) q.i.d were given, and oral acetazolamide tablets were stopped. During 1 to 3 months postoperative following-up, the IOP was maintained at 16.0–20.0 mmHg. The patient’s UCVA was improved from 2.0 to 1.0 (logMAR), and BCVA was improved from 2.0 to 0.5 (logMAR). Drugs for the left eye were discontinued. No cataract surgery was given on the right eye for the personal reason except that the anti-glaucoma medication was continued to maintain a normal IOP.