Congenital Hereditary Endothelial Dystrophy with Valvular Heart Disease: A Case Report

Document Type : Case Report


1 Department of Paediatrics and Child Health, University of Medical Sciences/ University of Medical Sciences Teaching Hospital, Ondo, Ondo State, Nigeria

2 Department of Ophthalmology, University of Medical Sciences Teaching, Hospital, Ondo, Ondo State, Nigeria

3 Department of Paediatrics and Child Health, University of Medical Sciences Teaching, Hospital, Ondo, Ondo State, Nigeria


Background: Congenital hereditary endothelial dystrophy (CHED) is a rare disease of the corneal endothelium. It is a nonprogressive clouding of the corneal, presenting at birth in most cases or shortly after it. This disease is categorized as an autosomal recessive disorder, which manifests with diffuse corneal edema, Descemet membrane thickening, and lack of endothelial cells. The primary abnormality in CHED is a degeneration of endothelial cells during or after the fifth month of gestation. The literature review has shown that CHED can occur with progressive, postlingual sensorineural hearing loss in Harboyan syndrome; however, it is not associated with any systemic abnormality.
Case report: Our study reports a case of CHED and valvular heart disease in a neonate. To the best of our knowledge, no research has been performed to investigate the relationship between CHED and valvular heart disease. In addition, the patient’s mother had vaginal discharge in the fifth month of gestation, which was, as stated in the previous studies, the period during which the abnormality occurs in CHED. The two aforementioned issues highlight the need for performing the present study.
Conclusion: Occurrence of CHED and heart disease has not been reported, there is a need for more research into this subject.


  1. Yanoff M, Duker JS. Ophthalmology: expert consult: online and print. Amsterdam, Netherlands: Elsevier Health Sciences; 2013.
  2. Klintworth GK. Corneal dystrophies. Orphanet J Rare Dis. 2009; 4(1):7.
  3. Azar DT. Refractive surgery e-book. Amsterdam, Netherlands: Elsevier Health Sciences; 2019.
  4. Nischal KK. Genetics of congenital corneal opacification - impact on diagnosis and treatment. Cornea. 2015; 34(Suppl 10):24-34.
  5. Ashar JN, Ramappa M, Vaddavalli PK. Paired-eye comparison of Descemet's stripping endothelial keratoplasty and penetrating keratoplasty in children with congenital hereditary endothelial dystrophy. Br J Ophthalmol. 2013; 97(10):1247-9.
  6. Kenyon KR, Antine B. The pathogenesis of congenital hereditary endothelial dystrophy of the cornea. Am J Ophthalmol. 1971; 72(4):787-95.
  7. Waring GO, Rodrigues MM. Congenital and neonatal corneal abnormalities. In: Tasman W, Jaeger
    EA, editors. Duane's ophthalmology, CD-ROM. Philadelphia: Lippincott Williams & Wilkins; 2002. P. 1-38.
  8. Aldave AJ, Han J, Frausto RF. Genetics of the corneal endothelial dystrophies: an evidence-based review. Clin Genet. 2013; 84(2):109-19.
  9. Patel S, Parker M. SLC4A11 and the pathophysiology of congenital endothelial dystrophy. Biomed Res Int. 2015; 2015:475392.

10. Siddiqui S, Zenteno JC, Rice A, Chacón-Camacho O, Naylor SG, Rivera-de la Parra D, et al. Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to harboyan syndrome. Cornea. 2014; 33(3):247-51.

11. Klintworth GK. The molecular genetics of the corneal dystrophies-current status. Front Biosci. 2003; 8:d687-13.

12. Desir J, Moya G, Reish O, Van Regemorter N, Deconinck H, David KL, et al. Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial opacities. J Med Genet. 2007; 44(5):322-6.