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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
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijo.IJO_2410_21

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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.

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