• Users Online: 1125
  • Print this page
  • Email this page
CASE REPORT
Year : 2022  |  Volume : 2  |  Issue : 2  |  Page : 371-375

Recurrence in Reis Bücklers corneal dystrophy: Clinicopathological correlation


1 Cornea Services, Dr Rajendra Prasad Centre for Ophthalmic Sciences, New Delhi, India
2 Ocular Pathology Services, Dr Rajendra Prasad Centre for Ophthalmic Sciences, New Delhi, India
3 Department of Anatomy and Genetics, All India Institute of Medical Sciences, New Delhi, India

Correspondence Address:
Murugesan Vanathi
Department of Cornea and Ocular Surface, Cataract and Refractive Services, Dr R P Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi - 110 029
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_2410_21

Rights and Permissions

We report a case series highlighting clinical correlation of recurrence of Reis–Bucklers corneal dystrophy (RBCD) with histopathology (HPE), genetic analysis, and electron microscopy (EM). This was an interventional case series of three cases in three generations of one family. The index case was a 23-year-old male with bilateral recurrent RBCD following OD PTK and OS ALTK done 6 years earlier. His father had undergone OU PK. His 35-year-old sister and 9-year-old niece were also affected who underwent OU ALTK. Clinical examination, histopathological examination (HPE), and electron microscopy (EM) evaluation were done. The recurrence of RBCD was noted in one of the three members of the same family. Corneal examination showed a dense reticulate pattern of epithelial-stromal involvement. On HPE, disrupted Bowman's membrane and underlying abnormal subepithelial collagen staining positive with PAS and Masson's trichrome were noted. On EM, degenerated stroma with dense collagen fibrils in aggregates, dispersed among regular collagen fibrils, were noted. All four members showed TGFß1 mutation (chromosome 5q31) with Arg124Leu mutation. A trend toward more advanced presentation with increasing age of cases was noted. The clinical and pathological correlation was performed. Clinical correlation with HPE, EM with genetic analysis of RBCD is interesting with presentation severity varying in different generations.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed174    
    Printed0    
    Emailed0    
    PDF Downloaded31    
    Comments [Add]    

Recommend this journal