Clinical Phenotypes of Inherited Retinal Disease

Principal Investigator: Marielle  Young
Keywords: Inherited eye disease , Bardet-Biedl Syndrome , X-linked retinitis pigmentosa (RP) , Incontinentia pigmenta , Familial exudative vitreoretinopathy (FEVR) Department: Ophthalmology-Services
IRB Number: 00070046 Co Investigator:  
Specialty: Ophthalmology, Pediatric, Ophthalmology, Ophthalmology
Sub Specialties: Retinal Diseases, Comprehensive Ophthalmology
Recruitment Status: Enrolling by invitation

Contact Information

Marielle  Young

Brief Summary

To determine the clinic phenotypes of patients with inherited retinal disease including vision, visual fields, nystagmus, optical coherence tomography of optic nerve and macula, visual evoked potential, and electroretinography and correlate this with genetic testing (when available) and known hereditary/inheritance patterns.

For this study, we are planning to study at least four types of inherited retinal disease: Bardet Biedl, female carriers of X-linked retinitis pigmentosa, incontinentia pigment and familial exudative vitreoretinopathy (FEVR).  These are rare diseases.  In the database of patients enrolled in EyeGene, there are 15 patients with FEVR, one patient with incontinentia pigmenti, and 150 with "retinal degenerations" that includes an estimated 15 patients with x-linked retinitis pigments and approximately 2-3 female carriers with significant clinical findings.  We anticipate that these numbers will be slightly larger when we also include those patients identified by ICD-9 code as not all patients seen are enrolled in EyeGene.  The purpose of these studies is compare the clinical and phenotypical findings in these small groups of patients in order to advance our understanding of disease processes and progression.  Clinical findings analyzed will include visual acuity and behavior, visual fields, and nystagmus.  Testing will include optical coherence tomography, visual evoked potential, electroretinography, and fluorescein angiography and autofluorescence.  Statistical analysis is not possible with these rare diseases and small numbers.  We plan to correlate clinical findings and visual function with genotype and report our data to both educate families on visual function and prognosis.  Such understanding will also lead to way to possible treatment for these rare diseases.


Inclusion Criteria

Patients with diagnosed inherited retinal disease.

Patients with normal eyes. (Control group)

Exclusion Criteria