Inherited Retinal Degeneration Clinic

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The University of Wisconsin – Madison Inherited Retinal Degeneration (IRD) Clinic was established by UW Health and the Department of Ophthalmology and Visual Sciences to offer expanded services such as specialized examinations and testing, physician consultation, genetic counseling, imaging, lab work and information about ongoing clinical trials and current research about inherited eye diseases.

WHAT ARE INHERITED RETINAL DEGENERATIONS?

Inherited retinal degenerations are a group of rare eye disorders caused by an inherited genetic mutation, and can result in vision loss or blindness.

INHERITED RETINAL DEGENERATIONS INCLUDE:

  • Retinitis Pigmentosa
  • Usher Syndrome
  • Best Disease
  • Rod-Cone Dystrophy
  • Cone Rod Dystrophy
  • Stargardt
  • Albinism
  • Achromatopsia
  • Choroideremia
  • Dominant optic atrophy
  • Leber congenital amaurosis
  • Leber optic neuropathy
  • Bardet Biedl
  • Congenital stationery night blindness
  • X-linked Retinoschisis
  • MELAS and other mitochondrial retinopathy
  • Gyrate Atrophy
  • Pseudoxanthoma Elasticum

What can you expect from your inherited retinal degenerations clinic visit?

  • IRD specialist care
  • Longer appointment times
  • Specialized clinical testing
  • Specialized clinical imaging
  • Genetic consultation
  • Clinical trials opportunities
  • Educational opportunities
  • Coping resources and services

Meet Our IRD Specialists

Kimberly E. StepienInherited Retinal Degeneration Clinic, MD

Kimberly E. Stepien, MD

Professor, Co-Vice Chair of Clinical Affairs

Melanie SchmittInherited Retinal Degeneration Clinic, MD

Melanie Schmitt, MD

Assistant Professor

Explore our active clinical trials

Status: Active: Enrollment Closed

STAR

A Randomized, Open Label, Outcomes-Assessor Masked, Prospective, Parallel Controlled Group, Phase 3 Clinical Trial of Retinal Gene Therapy For Choroideremia Using An Adeno-Associated Viral Vector (AAV2) Encoding Rab Escort Protein 1 (REP1) (STAR)

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Status: Active: Enrollment Closed

NIGHT

Natural History of the Progression of Choroideremia Study (NIGHT).

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Status: Active: Enrollment Closed

CHM SURVEY TRIAL

To assess health-related quality of life, health utility, work productivity, and impact on daily activities in patients/caregivers with CHM at different stages of disease progression.

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