A Novel Mutation Confirms MFRP as the Gene Causing the Syndrome of Nanophthalmos-Renititis Pigmentosa-Foveoschisis-Optic Disk Drusen

American Journal of Ophthalmology

Volumn 146, Issue 2, 2008, Pages

  Crespí, Jaume ^a   Buil, José A ^a   Bassaganyas, Francisca ^a   Vela Segarra, José I ^a   Díaz Cascajosa, Jesús ^a   Ayala Ramírez, Raul ^b   Zenteno, Juan C ^b  

^a UNIVERSITY OF BARCELONA   (Spain)

^b INSTITUTE OF OPHTHALMOLOGY CONDE DE VALENCIANA   (Mexico)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CONSANGUINEOUS MARRIAGE; ECHOGRAPHY; ELECTRORETINOGRAPHY; EXON; EYE EXAMINATION; EYE MALFORMATION; FLUORESCENCE ANGIOGRAPHY; FOVEOSCHISIS; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE DELETION; GENETIC ANALYSIS; HUMAN; MICROPHTHALMIA; NUCLEOTIDE SEQUENCE; OPTIC DISK ANOMALY; OPTICAL COHERENCE TOMOGRAPHY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA ANGIOGRAPHY; RETINITIS PIGMENTOSA; SIBLING;

EID: 47549087325     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajo.2008.04.029     Document Type: Article

References (21)

1. Kallen B., Robert E., and Harris J. The descriptive epidemiology of nanophthalmia and microphthalmia. Int J Epidemiol 25 (1996) 1009-1016
2. Warburg M. An update on microphthalmos and coloboma. A brief survey of genetic disorders with microphthalmos and coloboma. Ophthalmic Paediatr Genet 12 (1991) 57-63
3. Khairallah M., Messaoud R., Zaouali S., Ben Yahia S., Ladjimi A., and Jenzri S. Posterior segment changes associated with posterior microphthalmos. Ophthalmology 109 (2002) 569-574
4. Ryan E.A., Zwaan J., and Chylack Jr. L.T. Nanophthalmos with uveal effusion: clinical and embryologic considerations. Ophthalmology 89 (1982) 1013-1017
5. Yue B.Y., Kurosawa A., Duvall J., Goldberg M.F., Tso M.O., and Sugar J. Nanophthalmic sclera. Fibronectin studies. Ophthalmology 95 (1988) 56-60
6. Hermann P. Associated microphthalmia: microphthalmia-pigmentary retinitis-glaucoma syndrome. Bull Soc Ophtalmol Fr 1 (1958) 42-45
7. Franceschetti A., and Gernet H. [Ultrasonics diagnosis of microphthalmia without microcornea, with macrophakia, high hypermetropia associated with tapeto-retinal degeneration, a glaucomatous predisposition and dental anomalies (new familial syndrome)]. Arch Ophtalmol Rev Gen Ophtalmol 25 (1965) 105-116
8. Ghose S., Sachdev M.S., and Kumar H. Bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma-a new syndrome?. Br J Ophthalmol 69 (1985) 624-628
9. MacKay C.J., Shek M.S., Carr R.E., Yanuzzi L.A., and Gouras P. Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma. A new recessive syndrome. Arch Ophthalmol 105 (1987) 366-371
10. Buys Y.M., and Pavlin C.J. Retinitis pigmentosa, nanophthalmos, and optic disc drusen: a case report. Ophthalmology 106 (1999) 619-622
11. Mandal A.K., Das T., and Gothwal V.K. Angle closure glaucoma in nanophthalmos and pigmentary retinal dystrophy: a rare syndrome. Indian J Ophthalmol 49 (2001) 271-272
12. Proenca H., Castanheira-Dinis A., and Monteiro-Grillo M. Bilateral nanophthalmos and pigmentary retinal dystrophy-an unusual syndrome. Graefes Arch Clin Exp Ophthalmol 244 (2006) 1203-1205
13. Ayala-Ramirez R., Graue-Wiechers F., Robredo V., Amato-Almanza M., Horta-Diez I., and Zenteno J.C. A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. Mol Vis 12 (2006) 1483-1489
14. Sundin O.H., Dharmaraj S., Bhutto I.A., et al. Developmental basis of nanophthalmos: MFRP is required for both prenatal ocular growth and postnatal emmetropization. Ophthalmic Genet 29 (2008) 1-9
15. Yardley J., Leroy B.P., Hart-Holden N., et al. Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Invest Ophthalmol Vis Sci 45 (2004) 3683-3689
16. Kim J.W., Boes D.A., and Kinyoun J.L. Optical coherence tomography of bilateral posterior microphthalmos with papillomacular fold and novel features of retinoschisis and dialysis. Am J Ophthalmol 138 (2004) 480-481
17. Sundin O.H., Leppert G.S., Silva E.D., et al. Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein. Proc Natl Acad Sci U S A 102 (2005) 9553-9558
18. Kameya S., Hawes N.L., Chang B., Heckenlively J.R., Naggert J.K., and Nishina P.M. Mfrp, a gene encoding a frizzled-related protein, is mutated in the mouse retinal degeneration 6. Hum Mol Genet 11 (2002) 1879-1886
19. Sundin O.H. The mouse's eye and Mfrp: not quite human. Ophthalmic Genet 26 (2005) 153-155
20. Pauer G.J., Xi Q., Zhang K., Traboulsi E.I., and Hagstrom S.A. Mutation screen of the membrane-type frizzled-related protein (MFRP) gene in patients with inherited retinal degenerations. Ophthalmic Genet 26 (2005) 157-161
21. Hackam A.S. The Wnt signaling pathway in retinal degenerations. IUBMB Life 57 (2005) 381-388