Çocukluk Çağında Retinitis Pigmentosa: Bir Olgu Sunumu
Year 2008,
Volume: 6 Issue: 2, 43 - 46, 01.09.2008
Erdal Eren
Ufuk Şahin Tığ
Fadime Kendir
Ali Ayata
Abstract
Retinitis pigmentoza RP , birçok sendromla birlikte bulunabilen ve ilerleyicigörme kaybıyla seyreden bir hastalıktır. Bu nedenle erken tanısı önemlidir.Halen tedavisi bulunmayan bu hastalığın tanısı, iyi bir anamnez ve oftalmolojikmuayene ile konulabilmektedir. Bu yazıda bir olgu sunularak RP’ye yaklaşım,tanı ve tedavi yolları anlatılmıştır
References
- Hims MM, Diager SP, Inglehearn CF. Retinitis pigmentosa: genes, proteins and prospects. Dev Ophthalmol 2003;37:109-25.
- Kunimoto DY, Kanitkar KD, Makar MS (eds). Wills Eye Ma- nual: Office and Emergency Room Diagnosis anda Treat- ment of Eye Disease. 4th edition. Phiadelphia, Lippincott, Williams and Wilkins; 2004; p.278-91.
- de Beus A, Small KW. Retinitis pigmentosa. http://www. emedicine.com/oph/topic 704.htm#section~author_infor- mation.
- Olitsky SE, Nelson LB. Disorders of The Eye. Part 28, Chap- ter 621. In: Behrman RE, Kliegman RM, Jenson HB (eds). Nelson Textbook of Pediatrics. 17th edition. Saunders 2004; 2115-6.
- Young NM, Mets MB, Hain TC. Early diagnosis of Usher syndrome in infants and children. Am J Otol 1996;17:30-4.
- Young NM, Johnson JC, Mets MB et al. Cochlear implants in young children with Usher's syndrome. Ann Otol Rhinol Laryngol Suppl 1995;166:342-5.
- Iannello S, Bosco P, Camuto M et al. A mild form of Alstrom disease associated with metabolic syndrome and very high fasting serum free fatty acids: two cases diagnosed in adult age. Am J Med Sci 2004;327:284-8.
- Yılmaz Y, Alper G, Akalın F. Kearns Sayre Sendromu: Olgu Sunumu. Türk Pediatri Arşivi 2001;36:109-11.
- Hedera P, Gorski JL. Retinitis pigmentosa, growth hormone deficiency, and acromelic skeletal dysplasia in two brot- hers: possible familial RHYNS syndrome. Am J Med Genet 2001;101:142-5.
- Ghadami M, Tomita HA, Najafi MT et al. Bardet-Biedl syndrome type 3 in an Iranian family: clinical study and confirmation of disease localization. Am J Med Genet 2000;94:433-7.
- Spaggiari E, Salati R, Nicolini P et al. Evolution of ocular cli- nical and electrophysiological findings in pediatric Bardet- Biedl syndrome. Int Ophthalmol 1999;23:61-7.
- Kafil-Hussain NA, Monavari A, Bowell R et al. Ocular fin- dings in glutaric aciduria type 1. J Pediatr Ophthalmol Stra- bismus 2000;37:289-93.
- Herse P. Retinitis pigmentosa: visual function and multidis- ciplinary management. Clin Exp Optom 2005;88:335-50.
Retinitis Pigmentosa in Childhood: A Case Report
Year 2008,
Volume: 6 Issue: 2, 43 - 46, 01.09.2008
Erdal Eren
Ufuk Şahin Tığ
Fadime Kendir
Ali Ayata
Abstract
Retinitis pigmentosa RP is characterized by progressive loss of vision andaccompanied by many syndromes. Therefore, early diagnosis is very importantin RP. Now, definitive treatment of RP is not available. Diagnosis is performedwith good medical history and ophthalmolojical examination. We present apatient with RP and describe diagnosis, treatment and approach to this disease
References
- Hims MM, Diager SP, Inglehearn CF. Retinitis pigmentosa: genes, proteins and prospects. Dev Ophthalmol 2003;37:109-25.
- Kunimoto DY, Kanitkar KD, Makar MS (eds). Wills Eye Ma- nual: Office and Emergency Room Diagnosis anda Treat- ment of Eye Disease. 4th edition. Phiadelphia, Lippincott, Williams and Wilkins; 2004; p.278-91.
- de Beus A, Small KW. Retinitis pigmentosa. http://www. emedicine.com/oph/topic 704.htm#section~author_infor- mation.
- Olitsky SE, Nelson LB. Disorders of The Eye. Part 28, Chap- ter 621. In: Behrman RE, Kliegman RM, Jenson HB (eds). Nelson Textbook of Pediatrics. 17th edition. Saunders 2004; 2115-6.
- Young NM, Mets MB, Hain TC. Early diagnosis of Usher syndrome in infants and children. Am J Otol 1996;17:30-4.
- Young NM, Johnson JC, Mets MB et al. Cochlear implants in young children with Usher's syndrome. Ann Otol Rhinol Laryngol Suppl 1995;166:342-5.
- Iannello S, Bosco P, Camuto M et al. A mild form of Alstrom disease associated with metabolic syndrome and very high fasting serum free fatty acids: two cases diagnosed in adult age. Am J Med Sci 2004;327:284-8.
- Yılmaz Y, Alper G, Akalın F. Kearns Sayre Sendromu: Olgu Sunumu. Türk Pediatri Arşivi 2001;36:109-11.
- Hedera P, Gorski JL. Retinitis pigmentosa, growth hormone deficiency, and acromelic skeletal dysplasia in two brot- hers: possible familial RHYNS syndrome. Am J Med Genet 2001;101:142-5.
- Ghadami M, Tomita HA, Najafi MT et al. Bardet-Biedl syndrome type 3 in an Iranian family: clinical study and confirmation of disease localization. Am J Med Genet 2000;94:433-7.
- Spaggiari E, Salati R, Nicolini P et al. Evolution of ocular cli- nical and electrophysiological findings in pediatric Bardet- Biedl syndrome. Int Ophthalmol 1999;23:61-7.
- Kafil-Hussain NA, Monavari A, Bowell R et al. Ocular fin- dings in glutaric aciduria type 1. J Pediatr Ophthalmol Stra- bismus 2000;37:289-93.
- Herse P. Retinitis pigmentosa: visual function and multidis- ciplinary management. Clin Exp Optom 2005;88:335-50.