Bietti crystal dystrophy
| Classification according to ICD-10 | |
|---|---|
| H35.5 | Hereditary retinal dystrophy - tapetoretinal |
| ICD-10 online (WHO version 2019) | |
The Bietti crystal dystrophy (also: Bietti's crystalline retinopathy , Bietti crystalline corneoretinal dystrophy (BCD), crystalline corneoretinal dystrophy ) is a very rare congenital hereditary disease of the retina with tapetoretinal degeneration that begins in the third decade of life . Keynotes are crystalline deposits of unknown composition in the rear parts of the retina, the area of the cornea - the limbus and the leukocytes . Next one occurs sclerotherapy of the choroid a -vials.
This leads to night blindness , progressive deterioration in visual acuity and pericentral visual field defects . The disease leads to blindness . An effective therapy is not yet known.
The disease is also seen as a special form of retinitis pigmentosa .
Bietti crystal dystrophy is named after the Italian ophthalmologist Giovanni Battista Bietti (1907–1977), who first described it in 1937.
etiology
The disease is autosomal - recessive inherited. It is based on a genetic defect on the CYP4V2 - gene , which is the cytochrome P450 encoded 4V2 protein. An increased spread is assumed among people of Asian origin.
Differential diagnosis
The Schnyder corneal dystrophy must be differentiated .
literature
- GB Bietti: Su alcune forme atipiche o rare di degenerazione retinica. In: Bollettino d'Oculista. 16, 1937, pp. 1159-1239.
- J. Rosbach, A. Schulze, N. Pfeiffer, A. Mirshahi: Crystalline deposits in the retina. In: Der Ophthalmologe: Journal of the German Ophthalmological Society. Volume 110, Number 6, June 2013, pp. 546-548, ISSN 1433-0423 . doi: 10.1007 / s00347-012-2730-9 . PMID 23297118 .
Web links
- Crystalline corneoretinal dystrophy (Bietti) - long-term course in one patient of 30 years and inter-individual variability of clinical and electrophysiological findings in two patients. In: Clinical monthly sheets for ophthalmology. 2001; 218 (8), pp. 562-569; doi: 10.1055 / s-2001-17139
- Bietti crystal dystrophy. In: Online Mendelian Inheritance in Man . (English)
- National Eye Institute (NEI), USA: Facts About Bietti's Crystalline Dystrophy
- Retina Science: Bietti's crystalline dystrophy
Individual evidence
- ↑ a b c Bietti crystal dystrophy. In: Orphanet (Rare Disease Database).
- ↑ Bietti's crystalline corneoretinal dystrophy: a cross-sectional study. In: Retina, the journal of retinal and vitreous diseases. 24/2004.
- ↑ G. Bietti: About the familial occurrence of 'Retinitis punctata albescens' (connected with 'Dystrophia marginalis cristallinea corneae'), glitter of the vitreous body and other degenerative eye changes. In: Clinical Monthly Ophthalmology. 99, 1937, pp. 737-757.
