Updates on congenital hereditary endothelial dystrophy

Author:

Mehta Neet1,Verma Anshuman23,Achanta Divya Sree245,Kannabiran Chitra3,Roy Sanhita3,Mishra Dilip Kumar6,Chaurasia Sunita4,Edward Deepak Paul7,Ramappa Muralidhar245

Affiliation:

1. Academy of Eye Care Education, L V Prasad Eye Institute, Hyderabad, Telangana, India

2. Centre for Rare Eye Diseases and Ophthalmic Genetics, L V Prasad Eye Institute, Hyderabad, Telangana, India

3. Prof. Brien Holden Eye Research Center, LV Prasad Eye Institute, Hyderabad, Telangana, India

4. The Cornea Institute, L V Prasad Eye Institute, Hyderabad, Telangana, India

5. Jasti V Ramanamma Children’s Eye Care Center, L V Prasad Eye Institute, Hyderabad, Telangana, India

6. Ophthalmic Pathology Services, L V Prasad Eye Institute, Hyderabad, Telangana, India

7. Department of Ophthalmology and Visual Sciences and Pathology, University of Illinois College of Medicine, Chicago, IL, USA

Abstract

Congenital hereditary endothelial dystrophy (CHED) is a rare genetic corneal disorder causing progressive cornea clouding and significant visual impairment. CHED remains a leading indication for pediatric corneal transplantation despite its infrequency, particularly in regions with high consanguinity rates like Southeast Asia. Identifying the Solute Carrier Family 4 Member 11 (SLC4A11) gene as the genetic basis of CHED has led to the discovery of it’s various genetic variations. However, a comprehensive understanding of its clinical-genetic correlation, pathophysiology, and optimal management is ongoing. This review aims to consolidate current knowledge about CHED, covering its genetic origins, pathophysiological mechanisms, clinical presentation, and management strategies. Surgical intervention, such as penetrating keratoplasty (PK), Descemet stripping automated endothelial keratoplasty (DSAEK), and Descemet membrane endothelial keratoplasty (DMEK), remains the primary treatment. DSAEK and DMEK offer advantages over PK, including quicker visual recovery, reduced complications, and longer graft survival, especially in the pediatric age group. The timing of surgical interventions depends on disease severity, age at presentation, comorbidities, and visual potential. Elevated oxidative stress in CHED corneal tissue suggests potential benefits from anti-inflammatory drugs to rescue mutated endothelial cells. Considering the limitations of corneal graft surgeries, exploring novel gene-based molecular therapies are essential for future management. Early diagnosis, appropriate surgical interventions, amblyopia control, and genetic counseling for predictive analysis are pivotal for optimizing CHED management. A multidisciplinary approach involving ophthalmologists, researchers, and genetic counselors is essential for precise diagnosis and optimal care for CHED patients.

Publisher

Medknow

Subject

Ophthalmology

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