Clinical and genetic spectrum of genetic eye diseases seen in two newly developed ophthalmic genetics…

StudyDocumenta ophthalmologica. Advances in ophthalmology· Jul 2026

Clinical and genetic spectrum of genetic eye diseases seen in two newly developed ophthalmic genetics clinics: two-year experience.

Caroline Atef Tawfik, Maged Maher Roshdy

OphthalmologyStudyDiagnosisQ2IF 1.8

Nearly half of patients with genetic eye disease had moderate to severe vision loss

Clinical and genetic spectrum of genetic eye diseases seen in two newly developed ophthalmic genetics clinics: two-year experience.

Caroline Atef Tawfik, Maged Maher Roshdy

Documenta ophthalmologica · Jul 2026 · Q2 in Ophthalmology

Background

Genetic eye diseases (genetic eye diseases) are among the top ten leading causes of global blindness.

Methods

We conducted an electronic and physical medical records search for the patients attending the clinics.

n = 499 patients

Results

vision this bad or worse hurt over 2 in 5 patients

Moderate to severe vis

42%

Blind

24%

More results

Males represented 57.1% of the patients.

Genetic tests were done for 28.8% of the genetic eye diseases patients with a molecular solving rate of 87.5%.

Positive cases encompassed 47 genes; the most common were ABCA4 (11.8%), CRB1 (10.1%), BEST1 (8.4%), and NR2E3 (5.9%).

More results

Systemic associations were reported by 12.7%.

“

Conclusion · 1 of 2

This study provides a comprehensive overview of the encountered GEDs spectrum.

Conclusion · 2 of 2

The data are valuable for refining clinical diagnoses, establishing accurate inheritance patterns, informing family planning, and assessing patient eligibility for emerging gene-targeted therapies.

Clinical and genetic spectrum of genetic eye diseases seen in two newly developed ophthalmic genetics clinics: two-year experience.

Clinical and genetic spectrum of genetic eye diseases seen in two newly developed ophthalmic genetics clinics: two-year experience.

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