Microcornea with myopic chorioretinal atrophy, telecanthus and posteriorly-rotated ears: A distinct clinical syndrome

Ophthalmic Genetics

Volumn 33, Issue 4, 2012, Pages 196-199

  Khan, Arif O ^a,b  

^a KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

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

Author keywords

Chorioretinal atrophy; Microcornea; Myopia; Telecanthus

Indexed keywords

ACCOMMODATION PARALYSIS; ANTERIOR EYE CHAMBER; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CORNEA; EAR MALFORMATION; EYE DISEASE; EYE FIXATION; EYE MALFORMATION; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; MALE; MEDICAL RECORD REVIEW; MICROCORNEA; MYOPIA; MYOPIC CHORIORETINAL ATROPHY; POSTERIORLY ROTATED EAR; PRESCHOOL CHILD; PRIORITY JOURNAL; RECESSIVE GENE; SAUDI ARABIA; SCHOOL CHILD; TELECANTHUS; VISUAL ACUITY;

CHILD; CHILD, PRESCHOOL; CONSANGUINITY; CORNEA; CORNEAL DYSTROPHIES, HEREDITARY; CRANIOFACIAL ABNORMALITIES; EAR; ELECTRORETINOGRAPHY; EYE ABNORMALITIES; HUMANS; MALE; MYOPIA; PEDIGREE; RETINOSCOPY; RETROSPECTIVE STUDIES; SYNDROME; VISUAL ACUITY;

EID: 84867636272     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2012.681097     Document Type: Article

References (12)

1. Baumeister M, Terzi E, Ekici Y, Kohnen T. Comparison of manual and automated methods to determine horizontal corneal diameter. J Cataract Refract Surg 2004;30(2):374-380. (Pubitemid 38366363)
2. Batra DV, Paul SD. Microcornea with myopia. Br J Ophthalmol 1967;51(1):57-60.
3. Hazin R, Khan AO. Isolated microcornea: Case report and relation to other "small eye" phenotypes. Middle East Afr J Ophthalmol 2008;15(2):87-89.
4. Sohajda Z, Hollo D, Berta A, et al. Microcornea associated with myopia. Graefes Arch Clin Exp Ophthalmol 2006;244(9):1211-1213. (Pubitemid 44269605)
5. Bateman JB, Maumenee IH. Colobomatous macrophthalmia with microcornea. Ophthalmic Paediatr Genet 1984;4(2): 59-66. (Pubitemid 14031396)
6. Toker E, Elcioglu N, Ozcan E, et al. Colobomatous macrophthalmia with microcornea syndrome: Report of a new pedigree. Am J Med Genet A 2003;121A(1):25-30. (Pubitemid 37059337)
7. Marmor MF, Fulton AB, Holder GE, et al. ISCEV standard for full-field clinical electroretinography (2008 update). Doc Ophthalmol 2009;118(1):69-77.
8. Dollfus H, Verloes A. Dysmorphology and the orbital region: A practical clinical approach. Surv Ophthalmol 2004;49(6): 547-561. (Pubitemid 39505333)
9. Wojciechowski R. Nature and nurture: The complex genetics of myopia and refractive error. Clin Genet 2011; 79(4):301-320.
10. Mollica F, Li Volti S, Tomarchio S, et al. Autosomal dominant cataract and microcornea associated with myopia in a Sicilian family. Clin Genet 1985;28(1):42-46. (Pubitemid 15073885)
11. Boon CJ, Klevering BJ, Leroy BP, et al. The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. Prog Retin Eye Res 2009;28(3):187-205.
12. Alkuraya FS. Autozygome decoded. Genet Med 2010; 12(12):765-771.