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CASE REPORT
Alport syndrome with bilateral simultaneous anterior and posterior lenticonus with severe temporal macular thinning
  1. Vinita Gupta1,
  2. Mahsa Jamil1,
  3. Saurabh Luthra2 and
  4. Athul S Puthalath1
  1. 1 Ophthalmology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India
  2. 2 Ophthalmology, Drishti Eye Institute, Dehradun, Uttarakhand, India
  1. Correspondence to Dr Vinita Gupta, drvinitagupta{at}hotmail.com, vinita73gupta{at}gmail.com

Abstract

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.

  • macula
  • proteinurea
  • chronic renal failure
  • genetic screening/counselling
  • ear, nose and throat/otolaryngology
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Footnotes

  • Contributors VG: acquisition of data, preparation of image panels, conceptualization of manuscript, review of literature, drafting/editing of the report, reviewing the manuscript; MJ: acquisition of data, preparation of images, contribution in writing and reviewing the manuscript; SL: acquisition of data, drafting/editing of the report, reviewing the manuscript; ASP: acquisition of data, preparation of image panels, conceptualization of manuscript. All authors read and approved the final manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Patient consent for publication Obtained.

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