Literature DB >> 576544

Lenticonus in Alport's syndrome. A family study.

D S Singh, D B Bisht, S Kapoor, R N Sharma, K Sankaran, N K Majumdar.   

Abstract

A South Indian family with three well documented cases of Alport's syndrome with anterior lenticonus are reported. Clinical features of the syndrome including ocular and laboratory findings have been presented and discussed. Macular pigmentation, 5 cases, subcapsular opacity and nephrotic syndrome, one case each, observed in the present series are of great interest and are quite rare in patients with Alport's syndrome. Critical analysis of the family pedigree revealed autosomal dominance with incomplete penetrance as the possible mode of genetic transmission of the disease.

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Year:  1977        PMID: 576544     DOI: 10.1111/j.1755-3768.1977.tb06104.x

Source DB:  PubMed          Journal:  Acta Ophthalmol (Copenh)        ISSN: 0001-639X


  2 in total

1.  Ocular manifestations of Alport's syndrome: a hereditary disorder of basement membranes?

Authors:  J A Govan
Journal:  Br J Ophthalmol       Date:  1983-08       Impact factor: 4.638

Review 2.  Ocular Manifestations and Potential Treatments of Alport Syndrome: A Systematic Review.

Authors:  Rahul Ramakrishnan; Atira Shenoy; Damon Meyer
Journal:  J Ophthalmol       Date:  2022-09-08       Impact factor: 1.974

  2 in total

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