Ophthalmic pathology of Nance-Horan syndrome: case report and review of the literature.
BACKGROUND
Nance-Horan syndrome (NHS) is a rare X-linked disorder typified by dense congenital central cataracts, microcornea, anteverted and simplex pinnae, brachymetacarpalia, and numerous dental anomalies due in most cases to a mutation in the NHS gene.


METHODS
We present a case of clinical manifestation and ocular pathology in a patient with NHS. This article also reviews and discusses the relevant literature.


RESULTS
Classic and novel ocular pathological findings of a young male with NHS are described, including congenital cataracts, infantile glaucoma, scleral staphyloma, and severe retinal cystoid degeneration.


CONCLUSIONS
We report a new pathological finding of severe retinal cystoid degeneration in this NHS patient and confirm abnormal development of the anterior chamber angle structure. These findings, coupled with our analysis of the available NHS literature, provide new understanding of the histopathological basis of ocular abnormalities and vision loss in NHS.
Ding
Xiaoyan
X
Immunopathology Section, Laboratory of Immunology, National Eye Institute, Bethesda, Maryland 20892-1857, USA.
Patel
Mrinali
M
Herzlich
Alexandra A
AA
Sieving
Pamela C
PC
Chan
Chi-Chao
CC
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000328:Adult; D002386:Cataract / Q000151:congenital / Q000473:pathology*; D005124:Eye Abnormalities / Q000473:pathology*; D006801:Humans; D008269:Macular Edema / Q000473:pathology*; D008297:Male; D008565:Membrane Proteins; D009154:Mutation / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D012162:Retinal Degeneration / Q000473:pathology*; D013577:Syndrome; D014071:Tooth Abnormalities / Q000473:pathology*
D008565:Membrane Proteins; C488621:NHS protein, human; D009687:Nuclear Proteins