ArticleInternational journal of ophthalmology2025
Protein truncating splice site variant in
Article in International journal of ophthalmology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
aimTo identify the genetic factors underlying anophthalmia and microphthalmia (A/M), and to perform computational analysis to verify the pathophysiological mechanisms of the disease.
methodsThis study investigated a consanguineous Pakistani family with multiple affected individuals. Clinical evaluations were conducted using A-Scan and ophthalmic B-Scan ultrasonography (B-Scan). To identify the disease-causing variant, whole exome sequencing (WES) and Sanger sequencing were performed.
resultsClinical analysis of the five patients revealed severe phenotypes of bilateral anophthalmia. Ocular B-Scan did not detect ocular tissue or intraocular fluid, thus confirming the diagnosis of anophthalmia in all patients. Due to these structural defects, all patients exhibited complete blindness and absence of light perception; additionally, two patients had mild to moderate intellectual disability. Genetic analysis identified a splice site variant [NM_000693.2: c.884-2_885dup; p.(Asp296SerfsTer35)] in the 9
conclusionThe present study expands the genetic spectrum of
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