Ophthalmic Genetics 

unit is a unique subdivision of ophthalmogy department, college of medicine, King Saud University. The main goal of this unit is to apply the principles of precision medicine in the clinical practice of ophthalmology. Particularly, to serve patients and families with inherited and genetic ocular disorders including syndromic and non-syndromic forms of inherited retinal diseases (IRDs), congenital cataract, congenital glaucoma that constitute that largest burden of inherited ocular entities worldwide 

Structure and clinical service

Physician: The clinic runs by a Clinical Ophthalmic Geneticist; a well-trained clinician with a comprehensive knowledge about ocular genetic diseases phenotyping in addition to the ability of choosing the right diagnostic testing and provide best molecular results interpretation and a proper genetic counselling

Targeted patients: will be referred from other ophthalmogy clinics where they have been clinically examined by consultants and experts in the field. Therefore, a base clinical record is saved for each case and will be further utilized in the future discussion and planning

Phlebotomist: A trained phlebotomist that could manage blood prelevation for DNA /RNA extraction in EDAT/PAX tubes, to be labeled and stored according the recommended temperature

Ancillary testing: The presence of wide variety of ophthalmic imaging that keeps a close assessment and follow up recoding of each targeted case is of high importance for the deep phenotyping

Electrophysiology test: Electrophysiological testing constitute one of the major step in the diagnostic era and deep phenotyping of syndromic and non-syndromic inherited retinal disorders

Genetic testing: is run in one of the CAP accredited molecular labs in agreement with King Saud University Medical City 

Clinical Services

Each patient will be provided by the following

• Detailed history taking of prenatal , birth and postnatal.

• Popper family pedigree documentation

• Clinical examination and phenotyping

• Further genetics planning including the optimum molecular test and data interpretation.

• Genetic counselling

• Precise clinical diagnosis 

• Possible recruiting for gene therapy ( approved / clinical trials)

Dr. Basamat AlMoallem

Assistant professor and consultant

Department of Ophthalmology

College of Medicine University Medical   City

balmoallem@ksu.edu.sa

https://faculty.ksu.edu.sa/en/balmoallem