Rare eye diseases in India: A concise review of genes and genetics.
Indian J Ophthalmol
; 70(7): 2232-2238, 2022 07.
Article
en En
| MEDLINE
| ID: mdl-35791102
Rare eye diseases (REDs) are mostly progressive and are the leading cause of irreversible blindness. The disease onset can vary from early childhood to late adulthood. A high rate of consanguinity contributes to India's predisposition to RED. Most gene variations causing REDs are monogenic and, in some cases, digenic. All three types of Mendelian inheritance have been reported in REDs. Some of the REDs are related to systemic illness with variable phenotypes in affected family members. Approximately, 50% of the children affected by REDs show associated phenotypes at the early stages of the disease. A precise clinical diagnosis becomes challenging due to high clinical and genetic heterogeneity. Technological advances, such as next-generation sequencing (NGS), have improved genetic and genomic testing for REDs, thereby aiding in determining the underlying causative gene variants. It is noteworthy that genetic testing together with genetic counseling facilitates a more personalized approach in the accurate diagnosis and management of the disease. In this review, we discuss REDs identified in the Indian population and their underlying genetic etiology.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Ojo
/
Oftalmopatías
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Adult
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Child, preschool
/
Humans
País/Región como asunto:
Asia
Idioma:
En
Revista:
Indian J Ophthalmol
Año:
2022
Tipo del documento:
Article
País de afiliación:
India
Pais de publicación:
India