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[Differential diagnostic considerations in aniridia congenita and progressive iris atrophy].
Klin Monbl Augenheilkd. 1983 Jan; 182(1):80-1.KM

Abstract

The autosomal dominant mode of inheritance in aniridia congenita and in dysgenesis mesodermalis (Rieger's syndrome) usually facilitates differentiation from progressive iris atrophy, whose occurrence is, with very few exceptions, sporadic. However, due to incomplete penetration, aniridia and Rieger's syndrome cannot be ruled out by family history alone. In addition, aniridia may closely resemble certain stages of iris atrophy. For appropriate genetic counseling, the reliability of differentiation between the dominantly inherited conditions and sporadic dystrophy has to be verified by: a) looking for extraocular manifestations of Rieger's syndrome or b) clear evidence of a progressive course in cases of essential iris atrophy.

Authors

No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

ger

PubMed ID

6855127

Citation

Blankenagel, A, and H Krastel. "[Differential Diagnostic Considerations in Aniridia Congenita and Progressive Iris Atrophy]." Klinische Monatsblatter Fur Augenheilkunde, vol. 182, no. 1, 1983, pp. 80-1.
Blankenagel A, Krastel H. [Differential diagnostic considerations in aniridia congenita and progressive iris atrophy]. Klin Monbl Augenheilkd. 1983;182(1):80-1.
Blankenagel, A., & Krastel, H. (1983). [Differential diagnostic considerations in aniridia congenita and progressive iris atrophy]. Klinische Monatsblatter Fur Augenheilkunde, 182(1), 80-1.
Blankenagel A, Krastel H. [Differential Diagnostic Considerations in Aniridia Congenita and Progressive Iris Atrophy]. Klin Monbl Augenheilkd. 1983;182(1):80-1. PubMed PMID: 6855127.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Differential diagnostic considerations in aniridia congenita and progressive iris atrophy]. AU - Blankenagel,A, AU - Krastel,H, PY - 1983/1/1/pubmed PY - 1983/1/1/medline PY - 1983/1/1/entrez SP - 80 EP - 1 JF - Klinische Monatsblatter fur Augenheilkunde JO - Klin Monbl Augenheilkd VL - 182 IS - 1 N2 - The autosomal dominant mode of inheritance in aniridia congenita and in dysgenesis mesodermalis (Rieger's syndrome) usually facilitates differentiation from progressive iris atrophy, whose occurrence is, with very few exceptions, sporadic. However, due to incomplete penetration, aniridia and Rieger's syndrome cannot be ruled out by family history alone. In addition, aniridia may closely resemble certain stages of iris atrophy. For appropriate genetic counseling, the reliability of differentiation between the dominantly inherited conditions and sporadic dystrophy has to be verified by: a) looking for extraocular manifestations of Rieger's syndrome or b) clear evidence of a progressive course in cases of essential iris atrophy. SN - 0023-2165 UR - https://www.unboundmedicine.com/medline/citation/6855127/[Differential_diagnostic_considerations_in_aniridia_congenita_and_progressive_iris_atrophy]_ L2 - https://www.thieme-connect.com/DOI/DOI?10.1055/s-2008-1054716 DB - PRIME DP - Unbound Medicine ER -
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