A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma

British Journal of Ophthalmology

Volumn 87, Issue 2, 2003, Pages 197-202

  Reddy, M A ^a   Francis, P J ^b   Berry, V ^a   Bradshaw, K ^c   Patel, R J ^a   Maher, E R ^d   Kumar, R ^e   Bhattacharya, S S ^a   Moore, A T ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

^c ADDENBROOKE S HOSPITAL   (United Kingdom)

^d UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^e GEORGE ELIOT HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR PAX6;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CATARACT; CHROMOSOME 11Q; CLINICAL ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; CORNEA DISEASE; DIFFERENTIAL DIAGNOSIS; EYE AXIS LENGTH; EYE DISEASE; FAMILIAL DISEASE; FEMALE; GENE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE NNO1; GENE ROM1; GENETIC LINKAGE; GENETIC PREDISPOSITION; GENETIC SCREENING; GENOTYPE; HAPLOTYPE; HUMAN; MALE; MICROCORNEA; MYOPIA; PATHOGENESIS; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FAMILY; RETINA DYSTROPHY; ROD CONE DYSTROPHY; SCHOOL CHILD; SCORING SYSTEM; STAPHYLOMA; SYNDROME MRCS;

ADOLESCENT; ADULT; CATARACT; CHILD; CHROMOSOME DISORDERS; CORNEA; DNA; FEMALE; GENETIC MARKERS; GENOTYPE; HUMANS; LINKAGE (GENETICS); MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; RETINITIS PIGMENTOSA; SCLERAL DISEASES; SYNDROME;

EID: 0037309802     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.87.2.197     Document Type: Article

References (35)

1. Glaser T, Jepeal L, Edwards JG, et al. PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects (published erratum appears in Nat Genet 1994;8:203). Nat Genet 1994;7:463-71.
2. Percin EF, Ploder LA, Yu JJ, et al. Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nat Genet 2000;25:397-401.
3. Wallis DE, Roessler E, Hehr U, et al. Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nat Genet 1999;22:196-8.
4. Semina EV, Reiter R, Leysens NJ, et al. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet 1996;14: 392-99.
5. Semina EV, Ferrell RE, Mintz-Hittner HA, et al. A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. Nat Genet 1998;19:167-70.
6. Nishimuro DY, Swiderski RE, Alward WLM, et al. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet 1998;19:140-47.
7. Semina EV, Brownell I, Minz-Hittner HA, et al. Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts. Hum Mol Genet 2001;10:231-36.
8. Collinson JM, Quinn JC, Buchanan MA, et al. Primary defects in the lens underlie complex anterior segment abnormalities of the Pax6 heterozygous eye. Proc Natl Acad Sci USA 2001;98:9688-93.
9. Azuma N, Hirakiyama A, Inoue T, et al. Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies. Hum Mol Genet 2000;9:363-6.
10. Jamieson RV, Perveen R, Kerr B, et al. Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. Hum Mol Genet 2002;11:33-42.
11. Stoilov I, Akarsu AN, Sarfarazi M. Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum Mol Genet 1997;6:641-7.
12. Warburg M. Classification of microphthalmos and coloboma. J Med Genet 1993;30:664-9.
13. Weiss AH, Kouseff BG, Ross EA, et al. Simple microphthalmos. Arch Ophthalmol 1989;107:1625-30.
14. Weiss AH, Kousseff BG, Ross EA, et al. Complex microphthalmos. Arch Ophthalmol 1989;107:1619-24.
15. Mabrouk R, Chadli A, Djedidi H, et al.[4 cases of orbito-palpebral colobomatous cyst: clinical, anatomo-pathologic and genetic study] Bull Mem Soc Fr Ophtalmol 1968;81:173-94.
16. Ryan EA, Zwaan J, Chylak LT. Nanophthalmos with uveal effusion. Ophthalmology 1982;89:1013-17.
17. Singh OS, Simmons RJ, Brockhurst RJ, et al. Nanophthalmos: a perspective on identification and therapy. Ophthalmology 1982;89:1006-12.
18. Serrano JC, Hogkins PR, Taylor DSI, et al. The nanophthalmic macula. Br J Ophthalmol 1998;82:276-79.
19. Yamani A, Wood I, Sugino I, et al. Abnormal collagen fibrils in nanophthalmos: a clinical and histological study. Am J Ophthalmol 1999;127:106-7.
20. MacKay CJ, Shek MS, Carr RE, et al. Retinal degeneration with nanophthalmos, cystic macular degeration, and angle closure glaucoma: a new recessive syndrome. Arch Ophthalmol 1987;105:366-71.
21. Buys YM, Pavlin CJ. Refinitis pigmentosa, nanophthalmos, and optic disc drusen: a case report. Ophthalmology 1999;106:619-22.
22. Ghose S, Sachdev MS, Kumar H. Bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma-a new sydrome? Br J Ophthalmol 1985;69:624-8.
23. Othman MI, Sullivan SA, Skuta GL, et al. Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11. Am J Hum Genet 1998;63:1411-18.
24. Marmor MF, Zrenner E. Standard for clinical electroretinography (1999 update). International Society for Clinical Electrophysiology of Vision. Doc Ophthalmol 1998-99;97:143-56.
25. Bessant DAR, Khaliq S, Hameed A, et al. A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32. Am J Hum Genet 1998;62:1113-16.
26. Morle L, Bozon M, Zech J-C, et al. A locus for autosomal dominant colobomatous microphthalmia maps to 15q 12-q 15. Am J Hum Genet 2000;67:1592-7.
27. Lathrop GM, Lalouel JM. Easy calculations of lad scores and genetic risks on small computers. Am J Hum Genet 1984;36:460-5.
28. Shiels A, Mackay D, Ionides A, et al. A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q. Am J Hum Genet 1998;62:526-3.
29. Mackay D, Ionides A, Kibar Z, et al. Connexin46 mutations in autosomal dominant congenital cataract. Am J Hum Genet 1999;64:1357-64.
30. Berry V, Francis P, Kaushal S, et al. Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q. Nat Genet 2000;25:15-17.
31. Winchester CL, Ferrier RK, Sermoni A, et al. Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy. Hum Mol Genet 1999;8:481-92.
32. Koroma BM, Yang JM, Sundin OH. The Pax-6 homeobox gene is expressed throughout the corneal and conjunctival epithelia. Invest Ophthalmol Vis Sci 1997;38:108-20.
33. Hermann P. Le syndrome microphtalmie-retinite pigmentaire-glaucoma. Arch Ophthalmol 1958;18:17-24.
34. Bateman JB, Maumanee IH. Colobomatous macrophthalmia with microcornea. Ophthalmic Paediatr Genet 1984;4:59-66.
35. Kajiwara K, Berson EL, Dryja TP. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science 1994;264:1604-8.