Posterior microphthalmos as a genetically heterogeneous condition that can be allelic to nanophthalmos

Archives of Ophthalmology

Volumn 129, Issue 6, 2011, Pages 805-807

  Aldahmesh, Mohammed A ^a   Nowilaty, Sawsan R ^b   Alzahrani, Fatema ^a   Al Ebdi, Lama ^a   Mohamed, Jawahir Y ^a   Rajab, Mohammed ^a   Khan, Arif O ^a,b   Alkuraya, Fowzan S ^a,c,d  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^c KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^d ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; FRIZZLED PROTEIN; MEMBRANE TYPE FRIZZLED RELATED PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; ECHOGRAPHY; GENE LOCUS; GENE SEQUENCE; GENETIC LINKAGE; GENETIC VARIABILITY; HUMAN; HYPERMETROPIA; MICROPHTHALMIA; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; POSTERIOR MICROPHTHALMIA; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; DNA; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MICROPHTHALMOS; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 79958763778     PISSN: 00039950     EISSN: 15383601     Source Type: Journal    
DOI: 10.1001/archophthalmol.2011.129     Document Type: Article

References (6)

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2. Sundin OH, Leppert GS, Silva ED, 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. 2005;102(27):9553-9558. (Pubitemid 40981719)
3. Khan AO. Posterior microphthalmos vs nanophthalmos. Ophthalmic Genet. 2008;29(4):189.
4. Aldahmesh MA, Safieh LA, Alkuraya H, et al. Molecular characterization of retinitis pigmentosa in Saudi Arabia. Mol Vis. 2009;15:2464-2469.
5. Hmani-Aifa M, Ben Salem S, Benzina Z, et al. A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1. Hum Genet. 2009;126(4):575-587.
6. Ayala-Ramirez R, Graue-Wiechers F, Robredo V, Amato-Almanza M, Horta- Diez I, Zenteno JC. 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. 2006;12:1483-1489. (Pubitemid 46002466)