Open AccessAlport syndrome with bilateral simultaneous anterior and posterior lenticonus with severe temporal macular thinning
Author(s) -
Vinita Gupta,
Mahsa Jamil,
Saurabh Luthra,
Athul S Puthalath
Publication year - 2019
Publication title -
bmj case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.231
H-Index - 26
ISSN - 1757-790X
DOI - 10.1136/bcr-2019-229554
Subject(s) - medicine , abnormality , sensorineural hearing loss , ophthalmology , alport syndrome , retinopathy , surgery , hearing loss , diabetes mellitus , audiology , kidney , glomerulonephritis , psychiatry , endocrinology
Alport syndrome (AS) is a hereditary disease with various modes of inheritance, X-linked being the the most common. Anterior lenticonus is the characteristic abnormality along with perimacular and peripheral fleck retinopathy. Our two cases of AS had simultaneous anterior and posterior lenticonus with severe temporal macular thinning on optical coherence tomography with no specific renal symptomatology and were diagnosed as AS without any invasive renal biopsy. First patient was a 19-year-old man who presented with compound myopia due to bilateral anterior and posterior lenticonus with perimacular fleck retinopathy and lozenge sign and bilateral moderate sensorineural hearing loss (SNHL). Second patient was a 24-year-old man who presented with difficulty in vision due to bilateral anterior and posterior lenticonus with bilateral severe SNHL. Our cases emphasise the crucial role of an ophthalmologist in diagnosing AS before the onset of renal symptoms and prompting further nephrological work-up in the patient or the carrier.