Ophthalmic manifestations and histopathology of xeroderma pigmentosum: Two clinicopathological cases and a review of the literature

Survey of Ophthalmology

Volumn 56, Issue 4, 2011, Pages 348-361

  Ramkumar, Hema L ^a,b,c   Brooks, Brian P ^a   Cao, Xiaoguang ^a,d   Tamura, Deborah ^e   DiGiovanna, John J ^e   Kraemer, Kenneth H ^e   Chan, Chi Chao ^a  

^a NATIONAL EYE INSTITUTE   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c NORTHWESTERN UNIVERSITY   (United States)

^d PEKING UNIVERSITY PEOPLE S HOSPITAL   (China)

^e NATIONAL CANCER INSTITUTE   (United States)

Author keywords

Ciliary body hamartoma; Ocular pathology; Optic atrophy xeroderma pigmentosum; Pigmentary retinal degeneration

Indexed keywords

ISOTRETINOIN; XERODERMA PIGMENTOSUM GROUP A PROTEIN; XERODERMA PIGMENTOSUM GROUP D PROTEIN;

ADOLESCENT; ADULT; AREFLEXIA; ATAXIA; AUTOPSY; BASAL CELL CARCINOMA; BRAIN ATROPHY; CASE REPORT; CHILD; CORNEA NEOVASCULARIZATION; DEVELOPMENTAL DISORDER; DIPLOPIA; DIVERGENT STRABISMUS; DYSPHAGIA; FEMALE; GENE MUTATION; GLIOSIS; HISTOPATHOLOGY; HUMAN; KERATINIZATION; KERATITIS; KERATOPATHY; LAGOPHTHALMOS; MYOPIA; NERVE DEGENERATION; OPTIC NERVE ATROPHY; PANNUS; PERCEPTION DEAFNESS; PHOTOPHOBIA; PHOTOSENSITIVITY; PNEUMONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PTERYGIUM; PUPIL DISEASE; RETINA PIGMENT DEGENERATION; REVIEW; SKIN CANCER; XERODERMA PIGMENTOSUM; XPA GENE; XPD GENE;

ADULT; CILIARY BODY; FATAL OUTCOME; FEMALE; HAMARTOMA; HUMANS; MIDDLE AGED; NEOPLASMS, MULTIPLE PRIMARY; NEURODEGENERATIVE DISEASES; RETINAL DEGENERATION; SKIN NEOPLASMS; UVEAL DISEASES; XERODERMA PIGMENTOSUM; XERODERMA PIGMENTOSUM GROUP A PROTEIN; XERODERMA PIGMENTOSUM GROUP D PROTEIN;

EID: 79959252872     PISSN: 00396257     EISSN: 18793304     Source Type: Journal    
DOI: 10.1016/j.survophthal.2011.03.001     Document Type: Review

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