Novel biallelic AHR splice site mutation cause isolated foveal hypoplasia in Saudi patient.
- Resource Type
- Case Study
- Authors
- Almoallem, Basamat
- Source
- Acta Ophthalmologica (1755375X). 2022 Supplement 275, Vol. 100, pN.PAG-N.PAG. 1p.
- Subject
- *ARYL hydrocarbon receptors
*GENETIC mutation
- Language
- ISSN
- 1755-375X
Purpose: To study the clinical and molecular findings of a nonconsanguineous Saudi family with one affected 12 years boy affected by isolated foveal hypoplasia with no signs of infantile nystagmus. Methods: Comprehensive clinical and molecular approaches were applied including detailed ophthalmological examination followed by whole‐exome sequencing (WES). Results: Detailed ophthalmological examination revealed bilateral isolated foveal hypoplasia with the absence of the avascular zone. Novel homozygous aryl hydrocarbon receptor (AHR) splice site mutation; NM_001621.4: c.899_908 + 15del (p. ?) was identified and segregated within the family members. Conclusions: Our identified novel splice‐site AHR mutation supports the pathogenicity of the AHR gene and expands its phenotypic spectrum. Our study represents the first report of autosomal recessive isolated foveal hypoplasia without infantile nystagmus in the literature and the second reported AHR mutation with autosomal recessive isolated foveal hypoplasia post the original cloning paper. [ABSTRACT FROM AUTHOR]