J Korean Ophthalmol Soc > Volume 59(7); 2018 > Article
Journal of the Korean Ophthalmological Society 2018;59(7):687-690.
DOI: https://doi.org/10.3341/jkos.2018.59.7.687    Published online July 15, 2018.
A Case of Congenital Glaucoma in Associated with Nail-patella Syndrome.
Soomin Lee, Jong Chul Han, Chang Won Kee
Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. ckee@skku.edu
Nail-patella 증후군에 동반된 선천녹내장 1예
이수민⋅한종철⋅기창원
성균관대학교 의과대학 삼성서울병원 안과학교실
Correspondence:  Chang Won Kee,
Email: ckee@skku.edu
Received: 7 September 2017   • Revised: 15 October 2017   • Accepted: 24 November 2017
Abstract
PURPOSE
To report a case of congenital glaucoma associated with nail-patella syndrome. CASE SUMMARY: A 20-day-old female was referred to our clinic for bilateral intraocular pressure (IOP) elevation and treatment of corneal opacities. Her IOP was 25 mmHg and 30 mmHg in the right and left eyes, respectively. After a diagnosis of congenital glaucoma, bilateral trabeculotomy was performed under general anesthesia. On the first postoperative day, the IOP was 12 mmHg in the right eye and 10 mmHg in the left eye, and remained stable thereafter. The infant was the second of fraternal twins (birth weight of 2.42 kg) and had no family history of any particular disease. During the regular checkup, she was referred to an orthopedic clinic for disorders of the elbow and knee. She presented with a dystrophic thumbnail, patella hypoplasia, elbow hypoplasia, and bilateral triangular protrusions of the lateral iliac crest (iliac horn). Based on the above findings, typical nail-patella syndrome was diagnosed and a mutation in the LMX1B gene was detected. CONCLUSIONS: If glaucoma patients have nail deformities or musculoskeletal abnormalities, nail-patella syndrome should be suspected and a multidisciplinary approach should be conducted.
Key Words: Congenital glaucoma;Nail dysplasia;Nail-patella syndrome


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