Literature DB >> 21509091

Oculocutaneous Albinism associated with Axenfeld's Anomaly: Three case reports.

B R Keshav1, Mahmood J Mohammed, Nasir Mahmood.   

Abstract

Oculocutaneous albinism and anterior mesodermal dysgenesis are well-known heritable conditions, but their occurrence in association has only been rarely reported. We present cases of three siblings of a family with identical presentation suggesting that this association may be more than just a coincidence. This association is worth noting, as this could be one of the causes of ocular morbidity and poor vision in oculocutaneous albinism.

Entities:  

Keywords:  Albinism; Association; Axenfeld anomaly; Consanguinity; Hereditary; Oculocutaneous

Year:  2010        PMID: 21509091      PMCID: PMC3074661     

Source DB:  PubMed          Journal:  Sultan Qaboos Univ Med J        ISSN: 2075-051X


  8 in total

1.  Nettleship-Falls X-linked ocular albinism with Axenfeld's anomaly. A case report.

Authors:  M Hayakawa; K Kato; A Nakajima; T Yoshiike; H Ogawa
Journal:  Ophthalmic Paediatr Genet       Date:  1986-08

2.  Oculocutaneous albinism and anterior chambre cleavage malformations. Not a coincidence.

Authors:  D B van Dorp; J W Delleman; D H Loewer-Sieger
Journal:  Clin Genet       Date:  1984-11       Impact factor: 4.438

3.  Oculocutaneous albinism with Axenfeld's anomaly.

Authors:  W Benson
Journal:  Am J Ophthalmol       Date:  1981-07       Impact factor: 5.258

4.  Oculocutaneous albinism and corneal mesodermal dysgenesis.

Authors:  B Ricci; F Lacerra
Journal:  Am J Ophthalmol       Date:  1981-10       Impact factor: 5.258

5.  Oculocutaneous albinism associated with corneal mesodermal dysgenesis.

Authors:  J R Lubin
Journal:  Am J Ophthalmol       Date:  1981-03       Impact factor: 5.258

6.  Ocular findings in the Hermansky-Pudlak syndrome.

Authors:  N J Izquierdo; W Townsend; I E Hussels
Journal:  Trans Am Ophthalmol Soc       Date:  1995

Review 7.  Axenfeld-Rieger syndrome. A spectrum of developmental disorders.

Authors:  M B Shields; E Buckley; G K Klintworth; R Thresher
Journal:  Surv Ophthalmol       Date:  1985 May-Jun       Impact factor: 6.048

Review 8.  Oculocutaneous albinism.

Authors:  Karen Grønskov; Jakob Ek; Karen Brondum-Nielsen
Journal:  Orphanet J Rare Dis       Date:  2007-11-02       Impact factor: 4.123

  8 in total
  1 in total

1.  An unusual combination of unilateral orbital plexiform neurofibroma in a patient with oculocutaneous albinism.

Authors:  J Saravanan; A Rajendraprasad; S Priyadharshni
Journal:  Indian J Ophthalmol       Date:  2014-06       Impact factor: 1.848

  1 in total

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