Science: Dr. Borchert's Study

Dr. Mark Borchert

Dr. Mark Borchert, of the Department of Ophthalmology at Children's Hospital Los Angeles [bio, PDF format], is seeking volunteer subjects for a ongoing research studies designed to provide data about the factors involved in the formation of optic nerve hypoplasia prior to birth.

Current studies:

Optic Nerve Hypoplasia Registry

The ONH registry is a long-term prospective study of children with ONH, which collects information on clinical findings and functional outcomes, including visual acuity, endocrine dysfunction, neurologic deficits and cognitive abilities. Participants are less than 24 months of age upon enrollment and followed annually through puberty. The objectives of this research registry are to determine the clinical prenatal risk factors of ONH and to investigate the clinical characteristics associated with functional outcomes in order to identify opportunities for therapeutic and rehabilitative interventions.

The study may improve physicians' ability to provide earlier identification and treatment of ONH. In addition, identification of prenatal risk factors may allow physicians to prevent this disease in the future.

For more information or to participate in this study, please contact Carly Stewart, Study Coordinator, at 323-361-6219 or

Disease Distribution Survey

This survey is being conducted by Mark Borchert, M.D. and Pamela Garcia-Filion, PhD, M.P.H. If you have any questions regarding the survey, please contact them at (323) 669-6219 between 8am and 4pm PST, Monday through Friday.

Purpose: This survey is being used to gather information on how cases of optic nerve hypoplasia (ONH) are spread across the United States and to determine if there are unique distributions of this disease. Participation is available to families with a child diagnosed with ONH (or SOD) and is completely voluntary. This survey does not require that you identify yourself.

To participate, click here.

For more information on ONH, please review the documents linked below (both require the Adobe Acrobat PDF plug-in, available here):

Optic Nerve Hypoplasia: A Guide for Parents (PDF)
A general diagnostic overview of ONH.

Hipoplasia del Nervio Óptico: Guía Para Los Padres (PDF)
Una descripción de diagnóstico general en español.

For further information on ONH or ongoing research studies, visit our website or contact Carly Stewart at 323-361-6219 or