Presumed atypical HDR syndrome associated with Band Keratopathy and pigmentary retinopathy.
This report describes presumed atypical hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome associated with unexpected ocular findings. The patient had exotropia, bilateral band keratopathy, and pigmentary retinopathy, including attenuated retinal vessels and atrophy of the retinal pigment epithelium. Even though the calcific plaques were successfully removed, visual acuity in both eyes gradually decreased and electroretinography was extinguished.
Kim
Cinoo
C
Cheong
Hae Il
HI
Kim
Jeong Hun
JH
Yu
Young Suk
YS
Kwon
Ji Won
JW
D002675:Child, Preschool; D003317:Corneal Dystrophies, Hereditary / Q000150:complications*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000150:complications*; D006801:Humans; D007011:Hypoparathyroidism / Q000150:complications*; D009401:Nephrosis / Q000150:complications*; D012174:Retinitis Pigmentosa / Q000150:complications*