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Ophthalmology genetics

Eye genetics

Our eye genetics program cares for children with known or suspected inherited eye diseases. As the only dedicated specialized ocular genetic clinic of its kind in the state, we serve children and families from across Virginia and surrounding states.  

Although hereditary eye diseases are rare, genetic factors are the major underlying cause of childhood blindness and significant visual impairment in adults. Recent advances in molecular genetics have helped identify a substantial number of genes and conditions known to contribute to eye disease. Our team has a unique understanding of these conditions and provides the latest diagnostic, testing and treatment options with a personalized approach to meet each family's unique needs.

Conditions and services

Conditions evaluated include:

  • Achromatopsia
  • Albinism
  • Aniridia
  • Anophthalmia 
  • Anterior segment anomalies
  • Chromosomal disorders with ocular features
  • Coloboma
  • Congenital cataracts
  • Congenital glaucoma
  • Congenital nystagmus
  • Corneal dystrophies
  • Craniofacial syndromes
  • Craniosynostosis syndromes
  • Dominant optic atrophy (DOA)
  • Ectopia lentis
  • Hereditary optic neuropathies
  • Leber congenital amaurosis
  • Leber hereditary optic neuropathy (LHON)
  • Macular dystrophies
  • Microphthalmia
  • Neurocutaneous syndromes (Phakomatoses)
  • Neurofibromatosis
  • Retinal dystrophies
  • Retinitis pigmentosa
  • Stargardt disease
  • Stickler syndrome
  • Tuberous sclerosis
  • Usher syndrome
  • Von Hippel-Lindau syndrome
  • X-linked retinoschisis

The comprehensive clinical evaluation may include:

  • Diagnostic genetic testing
  • Genetic counseling
  • Comprehensive dilated eye examination
  • Ophthalmic imaging
  • Visual field testing
  • Electroretinography (ERG) testing
  • Resources for additional services
  • Discussion of ongoing relevant research and clinical trials

What to expect

Our eye genetics program is led by ophthalmic geneticist, Dr. Natario Couser and Ann Jewell, a board certified genetic counselor with more than 25 years of experience. They specialize in diagnosing and caring for patients with rare ophthalmic genetic conditions, have a unique understanding of the nature of these diseases, are familiar with the genetic testing options available and will help to select the most appropriate testing and management strategy. 

The process to reach a diagnosis in an individual with a rare genetic disease can be challenging. This journey can take weeks to years, and may involve numerous doctor visits and diagnostic tests. We understand this can be a significant emotional burden, so our team strives to reach a diagnosis in the most efficient and cost-effective manner possible. 

Your visit to the clinic will be personalized to meet your individual needs, and may involve detailed history gathering about your personal and family medical history, a comprehensive ocular examination including dilation of your eyes, specialized diagnostic testing, and a discussion about genetic testing, counseling, management and treatment options, and relevant clinical trial information.

As part of our ongoing partnership, it may be recommended to have follow-up counseling visits within the specialty clinic, or with the other ophthalmology and genetics experts in our care team.


To request an appointment, please email Fanta Kone at or call 804-828-2467.



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