Caroline A. Tawfik

Cairo, C, Egypt

Last Updated: 09/26/2026

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Found 15 publications

Large Choroidal Excavation in CDHR1-Associated Retinopathy.

Large Choroidal Excavation in CDHR1-Associated Retinopathy.

Journal: Ophthalmology. Retina

Published: July 01, 2026

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.

Journal: Documenta ophthalmologica. Advances in ophthalmology

Published: April 07, 2026

Clinical, biochemical and genetic characterization of an Egyptian patient with SRD5A3-congenital glycosylation disorder.

Clinical, biochemical and genetic characterization of an Egyptian patient with SRD5A3-congenital glycosylation disorder.

Journal: Ophthalmic genetics

Published: February 10, 2026

Molecular analysis of foveoschisis in females reveals a novel case of segmental uniparental disomy in X-linked retinoschisis.

Molecular analysis of foveoschisis in females reveals a novel case of segmental uniparental disomy in X-linked retinoschisis.

Journal: Documenta ophthalmologica. Advances in ophthalmology

Published: June 21, 2025

Concurrent uveitis in monozygotic twins in the context of systemic sarcoidosis.

Concurrent uveitis in monozygotic twins in the context of systemic sarcoidosis.

Journal: Journal of ophthalmic inflammation and infection

Published: March 26, 2025

Concurrent novel mutations in PAX3 and CFAP410 in a patient with Waardenburg syndrome type 1 associated with Retinitis Pigmentosa.

Concurrent novel mutations in PAX3 and CFAP410 in a patient with Waardenburg syndrome type 1 associated with Retinitis Pigmentosa.

Journal: Ophthalmic genetics

Published: March 05, 2025

A novel mutation in CNNM4 is associated with a case of Jalili syndrome in Egypt.

A novel mutation in CNNM4 is associated with a case of Jalili syndrome in Egypt.

Journal: Documenta ophthalmologica. Advances in ophthalmology

Published: January 02, 2025

A novel founder variant in BEST1 gene causing autosomal recessive bestrophinopathy.

A novel founder variant in BEST1 gene causing autosomal recessive bestrophinopathy.

Journal: Orphanet journal of rare diseases

Published: April 06, 2024

Autosomal Recessive Bestrophinopathy Presenting With a Macular Hole Retinal Detachment.

Autosomal Recessive Bestrophinopathy Presenting With a Macular Hole Retinal Detachment.

Journal: Journal of vitreoretinal diseases

Published: April 03, 2023

Harel Yoon syndrome: a novel mutation in ATAD3A gene and expansion of the clinical spectrum.

Harel Yoon syndrome: a novel mutation in ATAD3A gene and expansion of the clinical spectrum.

Journal: Ophthalmic genetics

Published: March 01, 2023

COVID-19 VACCINE-INDUCED ACUTE EXUDATIVE POLYMORPHOUS VITELLIFORM MACULOPATHY: CASE REPORTS.

COVID-19 VACCINE-INDUCED ACUTE EXUDATIVE POLYMORPHOUS VITELLIFORM MACULOPATHY: CASE REPORTS.

Journal: Retinal cases & brief reports

Published: February 02, 2023

Prevalence of inherited retinal diseases in a large Egyptian cohort.

Prevalence of inherited retinal diseases in a large Egyptian cohort.

Journal: BMC ophthalmology

Published: November 28, 2022

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Last Updated: 09/26/2026