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Abstract
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.
Figures and Tables
Figure 1
Ophthalmologic findings of the patient diagnosed with congenital glaucoma associated with nail-patella syndrome before and after trabeculotomy. (A) Anterior segment photos, 1 day before trabeculotomy show bilateral corneal edema. (B) Anterior segment photos, 1 year after trabeculotomy show clear cornea and deep anterior chamber. (C) Fundus photographs, 2 years after trabeculotomy show myopic fundus and tilted disc.
Figure 2
Clinical manifestation of the patient's hands. Dystrophic nails of the thumb and index finger, common findings in the nail-patella syndrome.
Figure 3
Radiographic findings of the bilateral femurs, elbows, pelvis compatible with the diagnosis of nail-patella syndrome. (A) Hypoplastic patellae. (B) G enu valgum. (C, D ) H ypoplasia of the radial head, capitellum, olecranon and coronoid fossa. (E) Presence of bilateral triangular osseous excrescences from the posterior aspect of ilia, known as iliac horns (arrows).
References
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