Journal of Clinical and Experimental Ophthalmology
Open Access
ISSN: 2155-9570
ISSN: 2155-9570
Santhiya ST
India
Commentary
A V235L Mutation of the Human BEST1 Gene Associated with Best Macular Dystrophy with Intra-familial Clinical Variations
Author(s): Dinesh Kumar K, Senthil Kumar G, Sathya A, Palani Raj A and Santhiya STDinesh Kumar K, Senthil Kumar G, Sathya A, Palani Raj A and Santhiya ST
Introduction: Best vitelliform macular dystrophy (BVMD) accounts for 1% of all cases of macular degeneration resulting in progressive loss of central vision. In this work we sought to evaluate the clinical and genetic background in a two generation pedigree of autosomal dominant BVMD for clinical management and follow up. To our knowledge this is the first report on association of Bestrophin 1 (BEST1) mutation with BVMD in an Indian family.
Case report: Complete ophthalmic examination done in a family with a complaint of impaired vision revealed the presence of yellow-orange yolk like lesions in the macula upon fundus examination. Further investigations through EOG revealed decreased Arden ratio. Besides the proband, two other members namely, mother and siblings were also affected in the family. Follow up clinical examination was done after thr.. View More»
DOI:
10.4172/2155-9570.1000502