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Novel Proposed Algorithm in Congenital Hereditary Endothelial Dystrophy.

Neet Mehta¹, Muralidhar Ramappa^2,3,4

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

Seminars in Ophthalmology

|June 28, 2022

Summary

Congenital hereditary endothelial dystrophy (CHED) management is challenging. Descemet membrane endothelial keratoplasty (DSAEK) offers better outcomes than penetrating keratoplasty, with gene editing showing future promise for this rare corneal condition.

Keywords:

CHED DSAEK in CHED NSAIDS congenital cloudy cornea densitometry

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Area of Science:

Ophthalmology
Genetics
Corneal Diseases

Background:

Congenital hereditary endothelial dystrophy (CHED) is a rare, autosomal recessive genetic disorder causing progressive corneal cloudiness and edema in infancy.
Current management lacks standardized grading and treatment algorithms, posing challenges for clinicians.
Endothelial dysfunction leads to increased corneal thickness and Descemet membrane abnormalities.

Approach:

A comprehensive literature review of 70 articles published within the last 7 years, with 17 selected for in-depth analysis.
Evaluation of newer diagnostic modalities like Anterior Segment Optical Coherence Tomography (AS-OCT) and Scheimpflug imaging for corneal cloudiness assessment.
Analysis of surgical outcomes comparing Descemet membrane endothelial keratoplasty (DSAEK) with penetrating keratoplasty.

Key Points:

Objective grading of corneal cloudiness using AS-OCT and Scheimpflug imaging aids in selecting optimal management strategies.
DSAEK demonstrates superior outcomes, fewer complications, and faster visual recovery compared to penetrating keratoplasty, crucial for preventing amblyopia.
Accurate staging of CHED and tailored management approaches are critical for successful treatment.

Conclusions:

DSAEK is a favorable surgical option for CHED, improving visual prognosis.
Emerging treatments, including NSAIDs targeting specific CHED subtypes and CRISPR-Cas9 gene editing, offer promising future therapeutic avenues.
Further research into standardized CHED grading and management protocols is essential.