High incidence of autosomal recessive nonsyndromal congenital retinal nonattachment (NCRNA) in an iranian founding population

American Journal of Medical Genetics

Volumn 78, Issue 3, 1998, Pages 226-232

  Ghiasvand, Noor M ^a,b   Shirzadeh, Ebrahim ^c   Naghavi, Mohsen ^d   Vaez Mahdavi, Mohammad R ^e  

^a SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c Emdad Sabzevar Hospital   (Iran)

^d MINISTRY OF HEALTH AND MEDICAL EDUCATION   (Iran)

^e SHAHED UNIVERSITY   (Iran)

Author keywords

Autosomal recessive; Coefficient of inbreeding; Congenital blindness; Consanguinity; Detachment of retina; Founder effect; Founding population; Genetic drift; Inbred population; Iran; Isolated population; Nonsyndromal congenital retinal nonattachment; Relative frequency

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CONGENITAL BLINDNESS; DIAGNOSTIC VALUE; GENE FREQUENCY; HUMAN; INBREEDING; INFANT; LEUKOKORIA; NEWBORN; PREVALENCE; PRIORITY JOURNAL; RETINA DETACHMENT;

EID: 0031802248     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980707)78:3<226::AID-AJMG3>3.0.CO;2-N     Document Type: Article

References (22)

1. Anderson SR, Warburg M (1961): Norrie's disease: Congenital bilateral pseudotumor of the retina with recessive X-chromosomal inheritance; preliminary report. Arch Ophthalmol 66:614-618.
2. Carney RG (1976): Incontinetia pigmenti. A world statistical analysis. Arch Dermatol 112:535-542.
3. Cheng-Jong C, Wico WL, Deepak PE, Mark OM (1995): Apoptotic photoreceptor cell death after traumatic retinal detachment in humans. Arch Ophthalmol 113:880-886.
4. Chew E, Pinckers A (1983): Bilateral retinal detachment in X-linked juvenile retinoschisis. Ophtalmic Paediatr Genet 2:89-93.
5. deJuan E, Machemer R (1987): Retinopathy of prematurity. Retina 7:63-69.
6. Emery AEH (1986): "Methodology in Medical Genetics." New York: Churchill Livingstone; pp 17-21, 55-57.
7. Forsius H, Krause U, Helve J, Vuopala V, Mustonen E, Vainio-Mattila B (1973): Visual acuity in cases of X-chromosomal retinoschisis. Can J Ophthalmol 8:385-393.
8. Goldberg MF, Custis PH (1993): Retinal and other manifestations of incontinentia pigmenti (Bloch-culzberger syndrome). Ophthalmology 100:1645-1654.
9. Hunter WS, Zimmerman LE (1965): Unilateral retinal dysplasia. Arch Ophthalmol 74:23-30.
10. Kinsey VE (1956): Retrolental fibroplasia. Cooperative study of retrolental fibroplasia and the use of oxygen. Arch Ophthalmol 56:481-543.
11. Malbran E, Dodds R, Hulsbus R (1972): Traumatic retinal detachment. Mod Probl Ophthalmol 10:479-489.
12. McKusick VA (1994): "Mendelian Inheritance in Man." Baltimore: Johns Hopkins University Press.
13. Phillips CI, Leighton DR, Forrester RM (1973): Congenital hereditary bilateral non-attachment of retina. Acta Ophthalmol (Copenh) 51:425-433.
14. Pruett RC, Schepens CL (1970): Posterior hyperplastic primaty vitreous. Am J Ophthalmol 69:534-543.
15. Reese AB (1905): Persistent hyperplastic primary vitreous. Am J Ophthalmol 40:317-331.
16. Shastry BS (1997): Familial exudative vitreoretinopathy: Further evidence for genetic heterogeneity. Am J Med Genet 69:217-218.
17. Theodore FH, Ziporkes J (1940): Congenital retinal fold. Arch Ophthalmol 23:1188-1197.
18. van Nouhuys CE (1991): Signs, complications, and platelet aggregation in familial exudative vitreoretinopathy. Am J Ophthalmol 111:34-11.
19. Warburg M (1975): Norrie's disease - differential diagnosis and treatment. Acta Ophthalmol 53:217-236.
20. Warburg M (1976): Heterogeneity of congenital retinal non-attachment, falciform folds and retinal dysplasia. Hum Hered 26:137-148.
21. Warburg M (1979): Aetiological heterogeneity and morphological similarity in congenital retinal non-attachment and falciform folds. Trans Ophthalmol Soc U K 99:272-283.
22. Weve H (1938): Ablantio falciformis congenita (retinal fold). Br J Ophthalmol 22:456-470.