Asymmetrical ocular involvement and persistent fetal vasculature in an adult with osteoporosis-pseudoglioma syndrome

Archives of Ophthalmology

Volumn 124, Issue 3, 2006, Pages 422-423

  Lai, Timothy Y Y ^a   Wong, Victoria W Y ^a   Lam, Dennis S C ^a  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMBLYOPIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DENSITOMETRY; BONE DENSITY; CASE REPORT; CATARACT; CLINICAL EXAMINATION; CLINICAL FEATURE; EYE DISEASE; FEMALE; GENETIC ANALYSIS; HUMAN; MICROPHTHALMIA; OPHTHALMOSCOPY; OSTEOPOROSIS; OSTEOPOROSIS PSEUDOGLIOMA SYNDROME; PATIENT REFERRAL; PERSISTENT FETUS CIRCULATION; PERSISTENT HYPERPLASTIC PRIMARY VITREOUS; PRIORITY JOURNAL; REFRACTION ERROR; RETINA DEGENERATION; RETINA PIGMENT DEGENERATION; SCORING SYSTEM; SHORT STATURE; VISUAL ACUITY; VISUAL SYSTEM EXAMINATION;

ABNORMALITIES, MULTIPLE; ADULT; CENTRAL NERVOUS SYSTEM NEOPLASMS; EYE ABNORMALITIES; FEMALE; FETAL BLOOD; GLIOMA; HUMANS; HYPERPLASIA; LDL-RECEPTOR RELATED PROTEINS; LENS, CRYSTALLINE; MUTATION; OSTEOPOROSIS; SYNDROME; VITREOUS BODY;

EID: 33644879198     PISSN: 00039950     EISSN: 00039950     Source Type: Journal    
DOI: 10.1001/archopht.124.3.422     Document Type: Article

References (4)

1. Gong Y, Siee RB, Fukai N, et al. LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell. 2001;107:513-523.
2. Toomes C, Bottomley HM, Jackson RM, et al. Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. Am J Hum Genet. 2004;74:721-730.
3. Frontali M, Stomeo C, Dallapiccola B. Osteoporosis-pseudoglioma syndrome: report of three affected sibs and an overview. Am J Med Genet. 1985;22:35-47.
4. Steichen-Gersdorf E, Gassner I, Unsinn K, Sperl W. Persistent hyperplastic primary vitreous in a family with osteoporosis-pseudoglioma syndrome. Clin Dysmorphol. 1997;6:171-176.